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Institute of Medicine (US) Committee on Assessing Genetic Risks; Andrews LB, Fullarton JE, Holtzman NA, et al., editors. Assessing Genetic Risks: Implications for Health and Social Policy. Washington (DC): National Academies Press (US); 1994.

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Assessing Genetic Risks: Implications for Health and Social Policy.

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4Issues in Genetic Counseling

It was a long and complex process. Blood samples from numerous members of my family had to be collected and analyzed. I underwent several months of genetic counseling to determine my ability to cope with any possible outcome. After a period of months, nothing remained but the nerve-racking wait for the results.... Finally, the wait was over: my test was negative. The DNA analysis has shown with 96 percent certainty (later increased to 99 percent, with refinement of the testing process) that I had not inherited the gene for Huntington's disease. When I learned the results I cried and laughed. It took months for the news to sink in. I am still adjusting. ... The incomparable relief I felt at finally being free of the fear and uncertainty . . . was tempered by the painful knowledge that other family members had not been and would not be so lucky.

(Hayes, 1992)

It is but sorrow to be wise when wisdom profits not.

(Sophocles, Oedipus Rex)

Genetic testing raises a broad range of questions and issues for those considering testing and for those offering the test: How great are the risks of the test? How reliable is the test? What does this information mean for me, for my children, for my family, for future generations? What is the nature of the disorder? What is its severity? What options are available? How will we choose? What medical and support services will be needed? What resources are available? What does the future hold for health, longevity, quality of life? What does this information mean for future insurability, employability, personal and social stigma, and discrimination? Along with their questions, people bring a wide variety of values and personal health beliefs about the central issues raised by genetic testing to the genetic testing and counseling experience.

Genetic counseling is the context for helping people address such issues. The communication of information and the process of counseling cannot be done in a vacuum; they are relevant only as they apply to each particular client's concerns and needs.

This chapter includes background information on the nature and basic components of genetic counseling in various settings (newborn screening, carrier detection, prenatal diagnosis, and screening for late-onset disorders). It also reviews critical issues facing genetic counseling today and for the future. Among these critical issues are nondirectiveness; informed consent; confidentiality; multiplex testing; recognizing social and cultural differences; and the need for a genetically literate public.

Many people who undergo genetic testing receive "good news" and reassurance with their genetic test results. They may learn definitively, or with a high probability, that neither they nor their children have a specific genetic disease. Many other people also learn that they and their children do not carry the gene(s) for that disorder. However, even favorable news and reassurance may affect people's concepts of themselves and their families, and may lead to what is called "survivor guilt" and a sense of ostracism from affected members of the family (Quaid, 1992; Wexler, 1992).

Other people who undergo genetic testing will be informed that a genetic disorder or genetic susceptibility has been identified in their fetus, their children, or themselves. Test results may be deeply troubling for those who receive a diagnosis of a genetic disorder or carrier status, raising fundamental questions of medical vulnerability, as well as personal and social image and identity. Individuals may perceive that they are "flawed," "imperfect," "defective,'' "inadequate," or "abnormal," or may have concerns that others will perceive them or their progeny in these terms (Kessler, 1979, 1981; Lipkin et al., 1986). The counselor acts as a resource in dealing with the sadness, loss, anger, guilt, or anxiety that genetic information can bring (Kessler et al., 1984).

In educating and counseling about genetics, the counselor must convey the varying nature of genetic risk and our varying ability to predict such risks. Our ability to predict genetic risk varies with mode of inheritance, severity of disorders, and other essential factors, such as environmental and/or combinations of genetic factors, that must be present before genetic susceptibility will be expressed as disease. The prediction of genetic risk also depends on the sensitivity and specificity of the test itself and the quality of laboratory procedures (see Chapter 3).

The immediacy of decision making is another key variable in genetic testing and counseling. The time pressure surrounding genetic testing varies by circumstances and disorders. For treatable disorders such as phenylketonuria (PKU), early identification of the disorder in newborns is critical so that dietary modification can be started early enough to prevent severe mental retardation. For many late-onset disorders and for preconceptional reproductive planning, genetic testing and counseling may occur in adulthood when the information will be of practical use; in these instances, the process of deciding whether to be tested need not be rushed. In other circumstances, it will be necessary to have information from genetic tests much more quickly so that decisions can be made. Although carrier testing is optimally performed before pregnancy, the most time-urgent of such decisions often surround reproduction, especially in prenatal diagnosis where safety dictates only a limited time during pregnancy in which to decide whether to be tested and to make decisions about whether to terminate or to carry to term a pregnancy if a genetic disorder is identified in the fetus.

There is tremendous variability in genetic counseling as provided today and envisioned for the future. As genetic testing expands with the growth of new genetic tests, genetic counseling and education will need to adapt to new modes and settings for the delivery of genetics services, without sacrificing quality. Health care providers will require an enhanced appreciation of the contribution of genetics to health, as well as an understanding of the complexities of genetic testing and decision making. This chapter reviews the basic tenets of genetic counseling as it has been defined and practiced in a variety of situations, and examines issues facing genetic counseling for the future.


Genetic counseling is the process by which individuals and families come to learn and understand relevant aspects of genetics; it is also the process for obtaining assistance in clarifying options available for their decision making and coping with the significance of personal and family genetic knowledge in their lives. In 1975, the American Society of Human Genetics Ad Hoc Subcommittee on Genetic Counseling described genetic counseling (Epstein et al., 1975) as

a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to (1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of recurrence; (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, and to act in accordance with that decision; and (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.

Others have applied clinical psychology theory and practice to the field of genetic counseling; this concept has been developed in the writings of Seymour Kessler (1979, 1981; Kessler and Jacopini, 1982; Kessler et al., 1984). Unquestionably, there are both educational and psychological support components to all levels of genetic counseling.

In the "classic" model of genetics services, genetic counseling is provided by a specialized team of professionals, including a clinical geneticist and genetic counselor, and is often provided in a genetics center (see Chapter 6 for discussion of personnel training and certification). The team might be much broader, particularly in specialty clinics where different disciplines are represented. For example, parents of children with cystic fibrosis (CF) often learn about recessive inheritance from pulmonologists, nurses, or social workers who provide care for their children in a CF clinic.

Increasingly, however, genetics services are being provided by primary care providers, who are not necessarily trained in human genetics. Primary care practitioners are also less likely to endorse an important principle of classical genetic counseling—that is, autonomous patient decision making (e.g., Geller et al., 1993; Stange et al., 1993); however, this more directive tradition in medical care is changing toward more autonomous decision making by patients, due in part to legal decisions on informed consent and the right to die (see Chapter 8).

The movement of genetics services into primary care is likely to increase as the number of genetic tests expands. Even if specialized genetics professionals are considered the best providers of genetic counseling services, there will simply be too few genetics professionals to meet the growing demand for services. However, traditional genetic counseling services, provided by specialized genetics professionals, are expected to remain a critical resource when test results reveal risks. Once genetic tests are judged to be "standard of care" for routine use, primary care practitioners are likely to be the ones to offer such testing and obtain informed consent. When risks are revealed, especially for nontreatable disorders including late-onset disorders and for those identified with carrier status, referral to specialized genetic counselors will usually be desirable because of the complexity of the issues in counseling for identified risk. Specialized genetics professionals will also increasingly need to train other personnel to provide genetic testing and counseling services as part of their professional activities.

In many genetic counseling situations, a client must decide whether to seek diagnosis and, if so, must then decide how to use the information resulting from the test. To date, genetic testing and genetic counseling lead to few opportunities for curative treatment of genetic conditions (see Chapter 2); thus, the primary emphasis in genetic counseling has been on facilitating autonomous decision making about receiving information on conditions for which treatment may not exist.

In a few conditions, accurate diagnosis can lead to medical interventions, such as newborn screening and follow-up treatment for PKU. For other conditions, carrier testing is available, permitting more options for reproductive planning, including avoiding conception. Prenatal diagnosis may provide reassurance as well as information for decisions on selective abortion if the fetus is determined to be at high risk for a diagnosable genetic disorder or in preparing for the birth of an affected child. Gene therapy has entered early clinical trials but is barely on the horizon for wide clinical use. This means that in many cases, the only intervention to be offered for a genetic disorder is communication about diagnosis, natural history, and information about available options, including a variety of reproductive options. In the absence of treatment, the psychological impact of this genetic information can be tremendous.

Awareness of the Impediments to Effective Genetic Counseling

Beyond the psychological consequences of receiving genetic testing information are the potential impacts on the family—not only the individual, but also the partner, parents, grandparents, siblings, and children of the individual being tested or screened. The diagnosis of a genetic condition or the results of a genetic test often have repercussions for future childbearing decisions as well, although this is only one of many components of genetic counseling. Social and psychological stress introduced by genetic diagnosis, as well as future financial and emotional burdens, can severely impact family functioning (Schild, 1979).

The provider of genetics services needs to be sensitive to the concept of the "teachable moment," that is, the point(s) at which an individual, couple, or family is most able to comprehend and absorb the information being given. The genetic counselor may not have the opportunity to counsel clients at more advantageous teachable moments—after some of the early shock and denial that often accompany genetic diagnosis have abated. Limited contact with the genetic counselor may often result from restrictions on insurance reimbursement (see Chapter 7) and other administrative impediments, such as the practice of scheduling counseling on the day of testing. These and other factors may help explain why certain studies show limited retention and understanding of the genetic information conveyed during counseling interactions (e.g., Childs et al., 1976; Sorenson et al., 1981; Chase et al., 1986; Wertz et al., 1986; Kessler, 1989). Potentially, one benefit of having primary care practitioners provide genetic counseling will be more continuity of care, since continuity of care provides more opportunities over time for teachable moments.

The psychological impact of a genetic diagnosis varies with its severity, treatability, and with the unique responses of different individuals and families (e.g., Kessler, 1979, 1980b; Kessler et al., 1984; Biesecker, 1992a; Wexler, 1992). Support, counseling, and follow-up can assist individuals and their families in coping with positive test results. The knowledge and skills of a properly trained counselor can help an individual understand the diagnosis, risk of recurrence, prognosis, and relevant preventive and therapeutic measures, and also aid in communicating important information to other family members.

There is general agreement that certain issues raised by testing should be discussed before an individual decides to be tested. Education and counseling include providing information and supportive counseling to people considering testing about what they need to know to decide whether to be tested—risk status, the benefits and burdens of testing, the limitations of available testing methods, and the implications of the test results, including the psychosocial consequences of such testing. Education and counseling are particularly important for genetic screening procedures, such as prenatal diagnosis for advanced maternal age or carrier screening for CF of an individual with no previous family history of the disease (see Chapter 2). In probabilistic terms, such individuals have a high likelihood of receiving good news—that their fetus is unaffected or that they are not carriers. 1 If conducted properly prior to testing, the groundwork for follow-up counseling will have been laid should test results come back indicating that a genetic condition is present.

Education and counseling following testing include interpretation of test results, discussion of the implications of that information, answering all questions (in a language and manner understandable to the person being counseled), providing supportive counseling, and offering information about community support groups and other follow-up resources. For some conditions, one visit might be sufficient to conduct posttest counseling, for example, after determination of TaySachs carrier status in a nonpregnant female. Other disorders might require several visits or, rarely, long-term supportive care may be needed. The variability of genetic disorders and of their impact demands flexibility in the delivery of services, both diagnostic and psychological.

After genetic counseling, clients should have enough information at least to attempt to deal with the complex interaction among the risks and benefits of various courses of action and with their own values and personal choices (Quaid, 1992). Since genetic diagnosis can sometimes present more uncertainty than certainty, it is important to communicate both information and empathy, because information exchange may be taking place in an atmosphere that is filled with anxiety and unfamiliarity (Biesecker, 1992a). And while the content and nature of genetic counseling may vary, certain basic tenets will almost always apply: nondirectiveness, voluntariness, confidentiality, and respect for social and cultural differences.


Carl Rogers, a clinical psychologist, coined the term nondirectiveness in 1942 to describe his psychotherapeutic approach of not advising, interpreting, or guiding his clients. Eventually, Rogers came to recognize that his very presence in a counseling relationship had directive components. By 1978, he had adopted the term person centered to describe his therapeutic approach, which is based on unconditional positive regard for the client as a self-actualizing person.

The early eugenics movement in the United States espoused improvement in the inborn characteristics of the human species by applying the rules of heredity to human reproduction (President's Commission, 1983; Kevles, 1985; Duster, 1990). Concern about early abuses in the eugenics movement helped to make the principle of nondirectiveness, and the corollary of respect for client autonomy, key concepts of genetic counseling today. Nevertheless, the issue of nondirectiveness in genetic counseling has led to controversy and confusion (Kessler, 1992; Biesecker, 1992a). The desirability as well as the practicability of nondirectiveness in genetic counseling has been challenged (e.g., Clarke, 1991; Morrison and Nevin, 1991; Kessler, 1992).

This controversy reflects an inherent tension in genetic counseling that arises from the complex functions of genetic counseling for different purposes in various settings. The continuum of genetic counseling includes, at a minimum, providing genetic information and education, as well as providing genetic counseling to explore the implications of the information; but it may also include providing specific medical advice for treatable conditions (e.g., Motulsky, 1989; Clarke, 1991; Harris and Hopkins, 1991; Pembrey, 1991; Super, 1991; Burke et al., 1993). Critics have challenged the ability of clinical geneticists and genetic counselors to practice nondirective counseling, and have raised concerns about the training and practice of primary care providers, which tends to encourage directive behavior (Epstein et al., 1975; Clarke, 1991; Stange et al., 1993). Primary care practitioners were found to be more directive in dealing with genetic situations than geneticists (Holmes-Seidle et al., 1987; Geller et al., 1993). Women who were counseled by a general obstetrician were more likely to terminate a pregnancy in which a sex chromosome abnormality had been diagnosed than if they were counseled by a geneticist (Holmes-Seidle et al., 1987).

Geneticists have recognized that their values often are not identical to those of their patients, thereby requiring that they respect patients' abilities to make decisions for themselves (Seller, 1982; Biesecker, 1992a; Kessler, 1992). The variation in approach among practitioners is part of the reason why patients must have the final decision about whether to be tested, even for disorders that are treatable. Biases are inherent to human nature and are often projected by health care providers in less than subtle ways. These biases may reflect the attitudes of health care providers about the nature and meaning of health and disease, the severity of genetic conditions and disorders, quality of life, the appropriateness of decisions related to genetic testing and counseling, acceptance of advice, and other issues of importance in genetics (Lin-Fu, 1981; Kessler, 1992; Uba, 1992). The use of language may be an important medium for the communication of values as well as facts in genetic counseling (see Box 4-1). Directiveness may also result from inadequate interviewing skills, including spending more time on or showing more enthusiasm for one option compared to another (Kessler, 1992).

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BOX 4-1

Issues in the Use of Language in Genetics.

Nondirectiveness should not be mistaken for passivity, however. Some counselors, in their eagerness to be nondirective, may shrink from being interactive with clients, from fully exploring the personal implications to them of their alternatives and actions. Nondirective counseling is an active, engaging process built on psychodynamic understandings and concepts, not merely a neutral recital of facts.

The commitment to nondirectiveness in genetic counseling arises from respect for the patient's autonomy in decision making. In a multinational survey of geneticists conducted in 1985, nearly all of the respondents cited respect for patients' autonomy and support for their decisions as important goals of genetic counseling (Wertz and Fletcher, 1988). Most respondents did not consider more eugenic goals, such as improving the general health and vigor of the population, or reducing the number of carriers of genetic disorders in the population, as important. However, a significant number did not reject such goals as ones of secondary importance.

Genetic counseling is a highly value-laden endeavor, and it is essential that genetic counselors become aware of the values and biases they bring to their work (Lin-Fu, 1987; Wenger, 1991; Kessler, 1992). The experience and orientation of the genetics service provider influence descriptions and perceptions of disorders, variability, and especially, of severity; widely varying cultural, socioeconomic, educational, and ethical factors affect descriptions of genetic disorders and their possible outcomes (Lin-Fu, 1987; Biesecker, 1992a; Kessler, 1992). A more negative or more positive description of a disorder may result from the orientation of providers, as well as from their objective in providing genetic counseling (Kessler, 1992).

Individual values about genetic testing also vary. For example, since its limited availability in 1986, the number of people actually choosing to take a presymptomatic DNA linkage test for Huntington disease (a fatal, untreatable autosomal dominant disorder of late onset described in Chapter 2) has been lower (Craufurd et al., 1989; Quaid et al., 1989; Tyler and Craufurd, 1992; Wexler, 1992) than was predicted by earlier attitudinal studies (Meissen and Berchek, 1987). Of those who enter testing programs seeking to be tested, once they fully appreciate the ramifications of test information through pretest information and counseling, only 20 percent continue the process to have the test; fully 80 percent choose not to utilize the genetic test. Among the members of the Dutch Huntington's Disease Association who decided not to undergo testing, a large proportion assumed negative consequences even if the Huntington disease gene was shown not to be present, for example, so-called survivor guilt, depression, and ostracism from their family (Huggins et al., 1992; Tibben et al., 1992). The test for Huntington disease has only been given in a few centers familiar with the disease. Now that a test for the gene is possible, great caution must be taken. Serious harms (i.e., unexpected impacts of not considering all the implications of deciding whether to be tested) could emerge from an existing trend to reduce the amount of counseling below the level recommended in the international guidelines and the U.S. protocol on presymptomatic testing for Huntington disease (Quaid, 1992; Wexler, 1992).

In the future, tensions surrounding the ethics of genetic counseling will become increasingly evident as more effective treatment becomes available for some genetic disorders, and even more tests are provided in primary care settings. Treatability poses additional dilemmas in deciding whether to give advice to patients to undergo testing beyond providing nondirective genetic counseling. The availability of effective treatment tends to shift the nature of the interaction closer to the model for provision of medical advice and guidance within the context of the ordinary practice of medicine; treatment may be aimed directly at the underlying disease or, in the case of cancer susceptibility, the intervention may involve frequent monitoring for early signs of tumor development.

The preservation of autonomous reproductive decision making may also come in direct conflict with traditional public health perspectives, which emphasize choices for societal good in terms of improved health by reducing the overall burden of disease or decreasing social and health care costs. Some clients will choose not to reproduce or to selectively abort affected fetuses, and their decisions will coincide with public health objectives. The weighing of risks and harms is complicated since general benefits to society from reducing the societal burden of disease may compete with the particular harms to the individual of losing autonomy and self-determination in areas as deeply personal and defining as genetics and reproduction. As a society, we have decided that such a health trade-off is socially acceptable for certain infectious diseases that pose an imminent threat to health, often to large numbers of people. However, as a society, we have also reached a consensus that such a trade-off is not appropriate for genetic disorders; thus, most compulsory sterilization laws enacted earlier in the twentieth century were subsequently repealed (Andrews, 1987).

Informed Consent

Principles of informed consent in the provision of genetic testing services, whether experimental or routine, include (1) fair explanation of the procedures to be followed and their purposes, including identification of any that are experimental; (2) description of risks and benefits to be reasonably expected, including the risks and benefits of future treatment; (3) disclosure of appropriate alternative procedures that might be advantageous to the participant; (4) information on what future decisions participants might be asked to make, including the possibility of abortion; (5) offer to answer inquiries; (6) instruction that the participant may refuse the test; and (7) documentation of the consent (see further discussion in Chapter 8).

In theory, informed consent has been accepted as an essential component of the doctor-patient relationship, but in general medical practice, physicians frequently fail to communicate elements essential for informed participation by patients (Wu and Pearlman, 1992). Few health care providers have been trained in the psychosocial skills needed to work effectively with patients in the informed consent process (Johnson et al., 1992), which may be associated with a historical reluctance by practicing physicians to factor patients' goals and values into decisions regarding their health care (Hollander, 1992).

In 1975, the National Academy of Sciences emphasized the need for obtaining consent by pointing to the nature of the hazards that have been experienced in genetic screening programs, including stigmatization, loss of employment or insurance, and family discord (NAS, 1975). In addition, the 1975 committee stressed that persons being screened or tested should be made fully aware of the limitations of the particular test, such as the risk of false positive or false negative findings and what can be done to minimize that risk. These concerns will become especially relevant as more tests are offered that have lowered sensitivity or specificity, such as those for non-Mendelian multifactorial diseases. The Alliance of Genetic Support Groups (1993) worked with a variety of professional and consumer organizations to develop informed consent guidelines for research involving genetic testing; these have now been released by the Alliance. 2 This joint development process involving professional bodies and consumers exemplifies the overall principles of this report.

To support this effort, there is a need for the development of balanced educational and counseling materials that describe genetic disorders. Such materials would help all providers of genetic testing and counseling to offer accurate and reliable education to their clients, and could help to reduce areas of bias or directiveness in genetic counseling. Balanced materials should be of special help to primary care practitioners who have to advise patients about a range of newly developing genetic tests. Since genetic tests are being developed so rapidly, there will also be a need to ensure that this kind of information reflects the latest scientific knowledge.

Because much of current genetic testing and related counseling now occurs in a research setting, there are important issues related to informed consent and other aspects of the protection of research subjects in large family research studies in genetics, often called genetic pedigree studies. The Ethical, Legal, and Social Implications (ELSI) Program at the National Institutes of Health (NIH) supported a 1992 American Association for the Advancement of Science workshop on these issues; more recently, ELSI, in cooperation with the NIH Office for Protection from Research Risks, convened a working group to consider additional guidelines for large family studies in genetics, and developed a special section on human genetic research for the IRB Guidebook (OPPR, 1993). The committee commends this first assessment and policy development process related to special issues in research involving genetic testing and counseling.


Because confidentiality is so essential in preserving client autonomy, its role in genetic diagnosis and testing is sometimes more complicated than in other medical tests or research protocols. Potential effects on other family members, are greater, as is the possibility for discrimination in employment or insurance, for example, where test results may only indicate an increased susceptibility to illness in an otherwise healthy person. The National Society of Genetic Counselors (NSGC, 1991) developed Guiding Principles that include a policy statement on the confidentiality of test results:

The NSGC supports individual confidentiality regarding results of genetic testing. It is the right and responsibility of the individual to determine who shall have access to medical information, particularly results of testing for genetic conditions.

Communicating Risks and Dealing with Uncertainty

One of the goals of genetic counseling is to calculate and communicate risks (Holtzman, 1989). Risk communication, however, entails far more than just accurately determining the numerical risk and transmitting that information to a client.

Clients come to the counseling session with experiential, emotional, religious, and situational concerns that will influence not only their perception and interpretation of risk but also the manner in which they receive the information presented to them. Communicating, understanding, interpreting, and using information on genetic risk involve a "series of complex, multidimensional processes with major rational and nonrational components" (Kessler, 1979).

Risk interpretation is usually associated with acceptability of the risk, that is, the willingness of an individual to deal with the outcome (Wertz et al., 1986). For example, when confronted with the risk of genetic disease in their offspring and when making reproductive decisions, people are likely to place greater weight on their ability to cope with a disabled or fatally ill child than on precise numerical risks (Lippman-Hand and Fraser, 1979d). Risk perception is also influenced by a number of additional subjective interpretations, such as preexisting notions about the degree of risk, whether the risk is under the individual's control (Slovic et al., 1984), whether it is reversible or treatable, whether it is visible, and whether one knows an individual with the disorder (Kahneman and Tversky, 1982; Evers-Kiebooms and van den Berghe, 1987; Hodgkinson et al., 1990). In addition, cultural differences can have a profound effect on the interpretation of risk (Lin-Fu, 1981, 1987, 1988, 1989; Miller, 1992; Uba, 1992) (see below). Finally, interpretation and understanding of risk may be affected by a limited understanding of risk in arithmetic terms, particularly probability (Kessler, 1979); for example, in a Maryland study of 190 predominantly Caucasian, middle-class women, more than one-fifth thought that "1 out of 1,000" meant 10 percent, and 6 percent thought it meant greater than 10 percent (Chase et al., 1986).

Furthermore, the manner in which risks are posed can influence a client's choices. The provider—as well as the presentation—may have a profound effect on perception of risk (Biesecker, 1992a; Kessler, 1992). Most counselors attempt to present risks numerically and avoid expressions of risk such as "high" or "unlikely" (Shiloh and Sagi, 1989). Deciding to have a genetic test can be different if the risk is presented as a 25 percent chance of having an affected child rather than a 75 percent chance of having an unaffected child (Holtzman, 1989). Interpretation of risk also varies according to whether it is presented as a single figure or in comparison with a variety of genetic and other risks (Shiloh and Sagi, 1989).

For the young adult child of a person with Huntington disease with a 50 percent risk of inheriting the disorder, is the risk of being tested for the disease worth the potential employment or insurance discrimination he or she might face? For a 35-year old pregnant woman, is a 1 in 250 chance of having a child with Down syndrome worth the risk of miscarriage of an unaffected fetus due to the prenatal diagnosis procedure? In these situations, choices can be made among various courses of action, based on the values and beliefs of those making the choices (Juengst, 1988). In prenatal counseling, regardless of actual risk, parents might perceive the chance of occurrence in a binary manner, it either will or will not happen. By processing risks in this way, individuals simplify probabilistic information and shift their focus to the implications of being at risk and the potential impact of what could occur. As Lippman-Hand and Fraser (1979a) point out, "the 'one' in the numerator never disappears no matter the size of the denominator, and the 'one' could be the counselee's child." Risk presentation and interpretation, therefore, are important in the decision-making process and are important components of the genetic counseling process.

These and other factors can also influence the results of studies of retention of risk information. In a study of 190 individuals from 100 families in which there is at least one person with autosomal dominant polycystic kidney disease (PKD), most tested poorly on questions reflecting their knowledge of the genetics of PKD (Hodgkinson et al., 1990). An analysis of nine studies on counseling published since 1970 concluded that "many parents of children with a genetic disorder have an inadequate understanding of the genetic implications of the disease, even after one or more genetic counseling sessions" (Evers-Kiebooms and van den Berghe, 1987). In one study, most (87 percent) who came for counseling with inaccurate knowledge of risk still had inaccurate knowledge after counseling, and some of those who came with accurate knowledge, had inaccurate knowledge after counseling (Sorenson et al., 1981). As described above, a number of factors undoubtedly influence understanding of risk and ability to report risk accurately. In the future, with an increase in the number of tests available to predict genetic disease and pressure to streamline the counseling process, those providing genetic counseling will find themselves facing even greater challenges in communicating risk.

Recognizing Social and Cultural Differences

Combined, the minority groups of Asian and Pacific Islanders, African-Americans, Hispanics, and Native Americans comprise nearly one-fourth of the U.S. population, increasing at a rate more than three times that of the total U.S. population (U.S. Bureau of the Census, 1988; U.S. Immigration and Naturalization Service, 1989). Projections for the year 2000 indicate that a majority of the U.S. population will be people of color (King, 1992); thus people who now comprise racial or ethnic minorities are sometimes referred to as the "emerging majority." The issue of cultural and racial variation in the receipt of genetic information poses additional challenges for those providing genetic counseling.

The sickle cell and Tay-Sachs carrier screening programs of the past provide valuable information on the importance of understanding the culture and values of the population being screened, and providing education and counseling tailored to that population, and of optimizing the settings in which screening occurs (see Chapters 1 and 2). Persons from different cultures, socioeconomic classes, and educational backgrounds may interpret and value the information provided through genetic testing and screening differently. This variability may be due to differences in people's views on reproduction and abortion, the role of children in the society, the significance of genetic disorders and diagnoses in terms of overall health, concepts of responsibility, blame and social stigma, labeling of genetic conditions in pejorative terms, and the relative importance and interaction of individuals, families, and the larger society. The social and cultural meaning of class, race, ethnicity, and religion all impact on genetic testing and reproductive decision making (Rapp, 1988a,b, 1991, 1993). Although genetics services providers may believe that they are providing vital information essential to autonomous decision making, those receiving it might have no context or practical use for understanding the information being provided. Furthermore, the information may challenge their basic individual and cultural values, thereby increasing their confusion and anxiety (see Box 4-2).

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BOX 4-2

Ethnic and Cultural Perspectives on Genetic Information.

Some common diagnosable genetic disorders in the United States have a higher prevalence in minority and immigrant populations and their descendants, including sickle cell anemia, thalassemia, and Tay-Sachs disease. For thalassemia, for example, the U.S. population at risk includes persons who originated from Italy, Greece, the Middle East, the Indian subcontinent, South China, Southeast Asia, and Africa (Lin-Fu, 1981). Many of those at high risk for thalassemia are recent immigrants and refugees for whom ethnocultural barriers are a serious deterrent to genetics and other health services. To break down ethnocultural barriers, geneticists and other health professionals must not only become aware of their own cultural values, but also understand, appreciate, and respect the cultures of those to whom service is offered, which may be very different from their own (Lin-Fu, 1981, 1989; Uba, 1992). Ethnocultural factors play a key role not only in communications (which encompasses far more than the simple use of language), but also in the perception and acceptance of risk, and in beliefs about health and genetic disorders in general (Wenger, 1991).

Differences in perception and use of genetics services may also be a function of socioeconomic status. In the United States and the United Kingdom, studies have shown that women of upper socioeconomic groups were more likely to use prenatal diagnostic procedures (Wertz and Fletcher, 1988; Wertz, 1992a-c). Acceptance of Tay-Sachs and sickle cell screening by adults, as well as retention of information presented by counselors and doctors, correlated with education and social status (NAS, 1975). Similarly, a study of families at high risk for X-linked diseases found that those with higher incomes and greater education were more likely to utilize prenatal diagnosis in an attempt to ensure that their offspring would be healthy (Beeson and Golbus, 1985).

Consequently, a general assessment of the client's education, family structure, family decision making, degree of acculturation, concept of and approaches to disease, and expectations of the service provider may represent an important first step in genetic counseling. Differences in language and culture can be important barriers in informed consent and in genetic counseling. For example, a recent survey of genetic counselors and nurses in genetics revealed that only 14 percent were fluent in a language other than English (OTA, 1992a). In addition, the vast majority of genetic counselors are Caucasian (more than 90 percent), although 25 percent of genetics services clients are estimated to be from racial and ethnic groups that are not Caucasian (CORN, 1992; OTA, 1992a). In some settings, individuals of the same background as the clients have been trained to assist genetic counselors in overcoming cultural, linguistic, geographic, or economic barriers (see Chapter 6). In one demonstration of delivery of prenatal genetics services for hemoglobinopathy screening, key features were distinguishing the different ethnic groups and providing a distinctive approach to medical care of each, providing interpreter service, and meeting with leaders of each ethnic group to obtain their support (Rowley et al., 1987).


Genetic counseling takes place in many contexts and settings: it can take place following the birth of a child, during childhood or adolescence, as a part of reproductive planning, and in pregnancy and adulthood. At each stage in the life process, different concerns and questions will arise based on the need to make a decision or the need to cope with troubling information. Genetic counseling takes place surrounding the process of genetic screening or genetic testing or following referral by physicians based on signs and symptoms. Although each context for genetic counseling described below requires adherence to the basic principles described above—respect for autonomy, informed consent, balanced and accurate presentation of risks, and respect for privacy—each context presents some particular challenges to client-centered counseling for the genetic counselor. Some of these challenges are also discussed in Chapters 1, 2, and 8.

Newborn Screening

Newborns may now be screened for more than 11 genetic and metabolic disorders, but screening programs vary significantly by state. As discussed in Chapter 2, broad population screening such as newborn screening inevitably results in a high rate of false positive test results in the initial stages of newborn screening; this necessitates accurate and timely confirmatory diagnosis as well as follow-up counseling for families whose newborn has initial positive tests results.

Newborn screening is not a trivial intervention and may raise important health and social issues. For example, detection of an affected child can disrupt the relationship between the parents and the newborn. Parents often experience guilt at having passed a genetic disorder to their child. In addition, there may be social stigma, and such stigma may be increased if a reliable carrier screening test was available before pregnancy or birth (although such a test is not available for PKU or hypothyroidism). In all cases, the parents of an affected child should be informed about the availability of carrier testing for their relatives. The counselor should be sensitive to the possibility, however, that this information might not be desired by the parents, and the wishes of the parents should be respected.

There have been suggestions that newborn screening could also serve as a strategy for providing carrier screening (Cunningham, 1992). These suggestions have been based on reasons of convenience, since most babies are born in hospitals where genetic screening programs are available. However, there are practical as well as social and ethical problems with obtaining and using information on carrier status obtained from newborns. First, as a practical matter, newborns determined to be carriers would have to be followed until their reproductive years to ensure that they are aware of their carrier status when they may choose to know the information. Second, the detection of carrier status in newborns might raise the anxiety level of parents without providing necessary resources to address such concerns, and may create personal and social stigma for the newborn child. Third, newborn screening is an inefficient way of detecting carriers, and other approaches to carrier screening in young adulthood give more options to people identified as carriers (see below). Further, the information may become lost to the individuals before they are old enough to use it, or it may be unwelcome information.

In some newborn screening tests, such as the test for sickle cell anemia, the same test reveals both the carrier status and the disease status of the newborn simultaneously. The test for sickle cell anemia indicates if the newborn is a carrier of one copy of the gene or two copies and is affected with the disease. Questions arise about whether genetic information on the carrier status of the newborn should be revealed to the parents. One advantage of telling the parents is to give them information relevant to their own future reproductive plans.

An additional dilemma that arises in newborn screening—if a newborn is diagnosed with an autosomal recessive disease and the parents are subsequently tested—is that genetic information may reveal misattributed paternity. The President's Commission (1983) recommended that misattributed paternity be disclosed, suggesting that counselors counsel the mother separately. The committee takes the view that such information should not be volunteered to the woman's partner.

Determining Carrier Status

Individuals or couples generally request a genetic test to determine carrier status in order to make their reproductive plans. Most people seeking carrier testing have already learned that they are related to an affected individual or someone who is known to be a carrier or that they are at higher risk because of ethnic or racial status (e.g., Tay-Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis). They request carrier tests for reassurance or for the opportunity for information that may be used in prevention (which may take many forms) or both. Prevention may include avoiding marriage to (or reproduction with) another carrier, reproductive planning through prenatal diagnosis and selective abortion, artificial sperm insemination by donor, ova or embryo donation, adoption, surrogacy, or experimental procedures for preimplantation diagnosis.

At present, most carrier screening takes place in the context of reproductive planning and often is conducted during pregnancy. Current debate surrounding CF carrier screening, for example, focuses on whether the goals are best accomplished by screening preconceptional adults or pregnant women (OTA, 1992a). These approaches can be complementary; the question revolves around when the information is best assimilated. Many feel that it would be better for individuals to know their risks before getting pregnant; they suggest screening earlier before pregnancy is likely to occur, when more options are available (Lipkin et al., 1986). Others argue that individuals not facing a pregnancy are not motivated to seek or use information on their carrier status; they will not value this information until they are either planning a family or starting a family (Brock, 1984). The committee favors giving pertinent information prior to conception when options are greater.

Past carrier screening programs have demonstrated the benefits of appropriate community education prior to screening people with no previous family history of the condition for which they are being screened (see Chapter 1). These programs include Tay-Sachs screening programs in the United States (Kaback, 1977; Githens et al., 1990; Scriver and Clow, 1990) and thalassemia screening programs in North America (Fisher et al., 1981; Scriver et al., 1984; Rowley et al., 1991), Sardinia (Cao et al., 1989), Canada (Scriver et al., 1984), Cyprus (Angastiniotis, 1991), and among Cypriots in London (Modell and Mouzouras, 1982; Modell and Petrou, 1988). In the 1970s, the woeful lack of appropriate public education at every level—from government officials to health professionals to the general community—about sickle cell disease and particularly about carrier status—is thought to have contributed to early problems in sickle cell testing and screening programs. More public awareness about genetic diseases and tests will undoubtedly help individual counseling.

Carrier screening provides a good example of the need for education and counseling both before and after testing. Education and counseling are needed before a person decides to undergo carrier testing to inform about the test and the meaning of acquiring this information to the individual. If an individual is tested and found to be a carrier, counseling after the test is also essential. However, if an individual is not found to be a carrier, counseling might not be necessary following the test as long as participants truly understand the results. Some general genetics education and counseling can be provided by informed primary health care providers. Before providing analysis for carrier status, it is important to discuss the client's a priori risk—that is, the individual's risk prior to any test result. At the present time, with a negative family history for a variety of autosomal recessive disorders, an individual's ethnic background is most important in defining a priori risk (e.g., CF in Caucasians, sickle cell in African-Americans). In the future, however, racial and ethnic status may not be as important a risk predictor; this has already happened in Tay-Sachs disease, where more births of infants with Tay-Sachs disease now occur in non-Jews than among Jews.

The complexity of genetic counseling for CF carrier screening serves as an example of the challenges posed by carrier detection. Cystic fibrosis is highly variable in its severity, and severity cannot be predicted by genetic testing. Median life span is increasing, conventional treatment of CF is improving, and prospects for effective gene therapy are growing. Any education and counseling before screening for carrier status should, therefore, include information about the individual's risk, the limits of existing tests to identify all carriers, the potentially limited availability of definitive prenatal diagnosis for at-risk couples, the variable nature of the disease, and prospects for the current and future of treatment of CE In the case of a negative screening result, individuals must clearly be informed that there is still a chance that they could be carriers. Research is needed to evaluate simple and innovative alternative methods of conveying such information, for example, in pamphlets written in easily understood language.

Although genetic counseling should be flexible and tailored to the particular situation, follow-up counseling and support are needed when carrier status is identified. Usually clients need supportive counseling immediately. Some may want genetic education and counseling right away; others might learn more if genetic education and counseling were delayed. News of carrier status can be accompanied by feelings that impede the person's ability to receive information on both emotional and practical levels. People's perceptions of their own health may worsen, which occurred for some when they were made aware of their carrier status for Tay-Sachs disease (Marteau, 1989, 1990); such anxiety can be prolonged (Zeesman et al., 1984). Knowledge of carrier status can also have an impact on reproductive intentions or behavior, including decisions relating to marriage or choice of marriage partner (Modell et al., 1980; Sujansky et al., 1990).

The moment at which a person is identified as a carrier of a recessive genetic trait may not always be the ''teachable moment" at which the person is most able to comprehend the full significance of the information. More teachable moments might come later after the initial information has been absorbed and the person has formulated questions related to the significance of the genetic information, particularly for future reproductive decision making. Thus, education and counseling for persons identified as carriers might well come in two stages, supportive counseling first with the initial detection of carrier status and, later, more detailed genetic education and counseling, when the person has had an opportunity to evaluate the significance of the new information.

In genetic counseling for carrier status, the person being tested, (the proband) is routinely advised of risks to other family members. If, for example, an individual is found to be a carrier for an autosomal recessive disorder such as CF or Tay-Sachs disease, the genetic counselor informs the individual that siblings also each have a 50 percent chance of being carriers. In most cases, the suggestion is made that the individual contact his or her siblings and that they consult with their personal physician or attend a genetics clinic for counseling. The genetic counselor does not typically confirm that the proband has informed relevant family members due to limits on time, access, and legal requirements for confidentiality in the counselor-client relationship. Often the family member requests the genetic counselor to assist by seeing other relatives or by guiding the disclosure process. Most people do inform their relatives of genetic information relevant to their health. However, the nature of some family relationships may impede full disclosure to the family by the patient.

Breaching confidentiality to disclose medical information to relatives raises legal and ethical issues, as well as psychosocial ones. Some argue that genetics providers should be legally permitted to disclose such relevant information to relatives at risk (Wertz and Fletcher, 1988). Not all relatives want genetic information (Quaid, 1992; Wexler, 1992). Sharing highly personal medical information that involves reproductive and health futures can raise many emotional and practical issues for family members and can lead to withholding relevant health information from other family members, and thereby not providing them the option to seek testing. The committee believes that clients should be encouraged to inform relatives about pertinent genetic information, but that only rare circumstances would warrant disclosure of genetic information without the consent of the client (see Chapter 8),

Prenatal Diagnosis

Some of the most difficult issues today in genetic diagnosis, testing, and screening surround prenatal diagnosis. The ability to diagnose genetic disorders far exceeds any ability to treat or cure them, and this situation is likely to prevail for a substantial period into the future. Since few diagnosable disorders are now treatable or preventable, few options yet exist for the use of genetics knowledge. Reproductive planning and decision making constitute one of the principal uses of such genetic knowledge, including evaluation of reproductive risk, decisions about whether to selectively abort fetuses identified as affected or highly likely to be affected by diagnosable genetic disorders, or preparing for the birth of an affected child. To compound the difficulties and uncertainties of such decision making, many of the genetic disorders that can now be diagnosed are highly variable in their expressivity, yet information about severity is rarely available through prenatal diagnosis. Prenatal diagnostic decisions are among the most personal in anyone's life and involve difficult psychological, ethical, legal, and social issues for anyone faced with them.

Some prenatal tests are screening tests (e.g., maternal serum alpha-fetoprotein), and other techniques permit diagnosis of certain genetic disorders. Again, the education and counseling needs will differ depending on the nature of the disorder for which the test is being done and the indication for the procedure. The majority of prenatal diagnoses are conducted for advanced maternal age, which increases the risk of a chromosomal abnormality, such as Down syndrome, in the fetus. In general, prenatal diagnosis for advanced maternal age is considered a genetic screening procedure because, although the risk of a chromosomal abnormality increases with age, it does so uniformly across the population (i.e., women of the same age carry the same risk). The majority of obstetrician-gynecologists now routinely offer prenatal diagnosis to women aged 35 and older. These physicians could conduct pretest education and counseling, and/or nurses appropriately trained in prenatal genetics could also provide pretest education and counseling. In the event a fetus is identified to have or be at high risk for a genetic disorder, however, posttest counseling should be conducted by a trained genetics professional in collaboration with the primary care physician.

The educational component of prenatal diagnosis includes information about the testing procedure, as well as the risks of the procedure for both mother and fetus in relation to the chances of detecting an abnormality. All of the options available when an abnormality is detected should then be discussed with the client, including the option of terminating the pregnancy. Psychosocial counseling becomes most important when clients have been provided basic information and are making their own, independent decision whether to undergo testing. The counselor encourages patients to discuss the meaning the information has for them, including the patients' feelings about potential sources of support should they choose to raise a child with a disability, what they might perceive as intolerable disability, the option of terminating the pregnancy, family reactions and values, and previous experiences (Biesecker, 1992b). Counselors should take into consideration the cultural and social differences described above and integrate into their counseling a recognition of how different backgrounds might shape the values and expectations of the counselees (Lin-Fu, 1981, 1987; Kessler, 1992).

A substantial body of literature has been written about the complexity of decisions surrounding prenatal diagnosis, including whether to have the test and what to do about the information it produces (Evers-Kiebooms and van den Berghe, 1987; Sissine et al., 1981; Saxton, 1984, 1988; Beeson and Golbus, 1985; Faden et al, 1987). Some of these studies focus on rational decision making (Pauker and Pauker, 1979), while other concentrate on socially determined responses (Lippman-Hand and Fraser, 1979a-d; Cote, 1983; Wertz et al., 1991). Much of this literature presents an idealized model about how such decisions should be made (Beeson and Golbus, 1985). Some studies have raised concerns that the process of prenatal diagnosis interrupts the formation of the maternal infant bonding, a process than has been called the "tentative pregnancy" (Rothman, 1986, 1992; Tymstra, 1991).

In one study, interviews with 53 mothers or couples led them to conclude that decision making regarding prenatal diagnosis and the uncertainties related to reproductive decisions were most often dealt with by envisioning the various outcomes and speculating as to how others will view the decision, rather than by "rational decision making" (Lippman-Hand and Fraser, 1979a-d; Lippman, 1992a). Probabilities were not particularly useful as a basis for parental decision making; the predominant perception of parents was a binary one—that a particular outcome will or will not happen. Parents then made a decision based on minimizing potential losses (Lippman-Hand and Fraser, 1979a-d).

Recent data from a large number of studies of families with a prior history of diagnosable genetic disorders indicate that even the most knowledgeable and experienced people employ somewhat differing values about selective abortion (Kaback et al., 1984, 1986; Faden et al., 1987; Wertz et al., 1991; Kaback, 1992; Wertz, 1992a-c). Parents considering prenatal diagnosis often saw only one tenable course of action, and thus did not see themselves as engaged in decision making. More than half of them had made clear decisions about their willingness to risk bearing an affected child before genetic counseling, reflecting attitudes they held long before the current pregnancy; parents viewed counseling as a source of information on carrier status and available options to implement prior decisions. The woman's religion was a key factor in decision making; lower educational attainment and income were associated with more willingness to have an affected child; but the most important variable was a previously affected child—those with a severely affected child were less likely to risk the birth of another child with a potentially severe disorder (Beeson and Golbus, 1985). However, persons from families with personal experience of the disorder also often have ambivalent feelings about selective abortion, regarding it as a rejection of their affected relative (Hodgkinson et al., 1990; Wertz et al., 1991; Wertz, 1992a-c).

Increasingly, prenatal diagnostic services are being provided not in genetic centers, but in private hospitals and clinics, and or in the offices of obstetricians and family physicians. There is little standardization in how services are provided, and the majority of women undergoing prenatal testing may receive only a subset of the counseling previously described. Some receive group counseling with or without individual assessment and counseling, some receive written information, and some receive information over the telephone prior to testing. Procedures for informed consent also vary widely (Biesecker, 1992b).

The institutionalization of prenatal screening and diagnosis, and the provision of these services en masse, may not provide appropriate attention to the individual concerns and needs of pregnant women. For example, maternal serum alpha-fetoprotein (MSAFP) screening during pregnancy has become widespread (see description of MSAFP screening test in Chapter 2). California has a program requiring that all providers of obstetrical services in California inform their patients of the availability of the MSAFP screening test (Cunningham, 1992). Press and Browner (1992, 1993) studied the understanding of women participating in the MSAFP program in California; despite the brochure given to each pregnant woman and the opportunity for her to consent or refuse testing, the majority of women studied reported that they believed they had been told to have the test rather than informed about the existence of the test, and many did not understand that the test was a screening test to predict increased risk rather than a diagnostic test capable of identifying genetic disorders in a fetus. Some physicians may have problems in the mathematics required for correct interpretation of laboratory test results (Holtzman, 1992) (see Chapters 2 and 3). There are also reports of considerable anxiety associated with MSAFP findings of increased risk of neural tube defects or Down syndrome in the developing fetus (Hoyt, 1992).

Screening for Late-Onset Disorders

Diagnosing the predisposition or susceptibility to future disease through genetic analyses will be troublesome for a society accustomed to medical tests that remove uncertainty. Such tests are likely to modify or reduce some uncertainties, but are not likely to remove them; indeed, these tests are likely to add new uncertainties. As predisposing genes are identified, genetic counselors and primary care providers will be faced with the task of helping at-risk individuals to understand the meaning of genetic predisposition and cope with the ambiguity. The late age of onset of these disorders makes test results particularly problematic, in that individuals may have to wait many years before finding out whether or not they will be affected by the disease. Late onset and difficulty in arriving at a specific diagnosis—because of and combined with variable gene penetrance, gene-gene interaction, variable disease severity, and environmental influences—create a complex of ambiguities that present an increasing challenge to genetic counseling now and in the future.

What are persons identified as being at risk to do about marriage, reproduction, and other life decisions, as well as about changing behaviors that may contribute to prevention of the disorder? The severity of a disease and its amenability to treatment or prevention will play a major role in both the presentation and the reception of genetic information. The most unacceptable psychological impact of facing the uncertainties of untreatable illness may be the feeling of being the passive victim of a totally random event (Wexler, 1992). In addition, for many conditions, questions arise about their prospects for insurability, employability, and other critical aspects of their lives. This kind of uncertainty is very difficult for even the most well-trained and dedicated counselors to convey even to relatively well-educated and well-informed people.

What does a counselor tell someone who has been identified as a carrier of a predisposing gene, especially when a gene has incomplete penetrance? Of necessity, counseling will be supportive rather than prescriptive. In counseling for non-Mendelian disorders, it is unlikely that individuals will be grouped easily into two distinct categories—those at no (or very low) risk and those at high risk (Risch, 1992). The proper model for counseling may include a very large number of categories, with the risk ranging from low to high depending on the particular constellation of genes at many loci. It is also critical to discuss the availability of effective presymptomatic interventions for those conditions where they are available. For example, avoidance of potentially health impairing habits, such as smoking, could be offered as a plan of action to individuals found to be at risk for lung cancer or coronary heart disease. Individuals identified at high risk for colon cancer could be counseled to have periodic medical examinations. Such interventions are not harmful and are warranted based on genetic predisposition alone. Little is known about the extent to which knowing genetic predisposition will affect the acceptance of genetic testing or compliance with medical interventions. Earlier research showed that knowing the increased risk of carrying the Tay-Sachs disease gene among young people of Ashkenazi Jewish descent did not increase acceptance of genetic screening (Clow and Scriver, 1977).

In the case of late-onset autosomal dominant disorders such as Huntington disease, adults face a double dilemma. Before the availability of predictive tests, individuals who knew of their risk status could forgo childbearing as the only way of avoiding passing on the trait. Now that presymptomatic tests are becoming available for some disorders, and those at risk can find out whether they will most likely develop the disease, they are presented with new options. If not at risk, they can reproduce without the burden of passing the gene to their children. If found to be carriers of the gene, they can elect to have prenatal diagnosis to determine whether their offspring will also inherit the fatal gene.

Multiplex Testing

In the future, genetic testing is likely to be provided in groups of tests (see discussion of such "multiplexing" of tests in Chapters 1, 2, and 8). The prospect of multiplex testing will undoubtedly create new challenges for the genetic counselor, once tests are available that can detect multiple genetic traits in an individual at one time. If the multiplex testing is to be used for carrier screening, then the individual must understand that multiple tests assessing the risk for different disorders will be available.


The public is generally not well prepared to face the increasing number and complexity of personal and public policy decisions likely to emerge from advances in human genetics. In the genetic counseling setting, individuals and families may be confronting genetic diagnoses and information in a state of crisis, characterized by shock, perceived threat, anxiety, or disbelief. The challenge to genetic counseling is to convey, during a stressful time, complex information about often rare genetic disorders and the probabilistic nature of the information, and to explore the meaning and significance of this information for the person, the family, and their future. Increasingly, the responsibility of preparing individuals to deal effectively with their own genetic health care must also fall to the public education system, a key enabler of scientific literacy. Every client brings some knowledge of genetics, whether accurate or sufficient or not, to the genetic counseling session; well-informed clients are better prepared to consider the issues in genetic testing and counseling and to make informed decisions appropriate to their own values. Chapter 5 addresses the need for improved public genetics education to increase the understanding of genetics, including variation, kinship, and diversity so that citizens can make informed decisions about genetic testing and participate in public debate about the scientific, ethical, legal, and social issues related to genetics.


Components of Genetic Counseling

The committee believes that genetic counseling and education must be an integral part of genetic testing; anyone who is offering, or referring for, genetic testing must provide—or refer for—appropriate genetic counseling and education prior to testing and follow-up after testing. If effective treatment can prevent serious disease or symptomatology, the committee believes that patients at risk for treatable illnesses should be informed of the potential benefits—as well as potential medical, social, and economic harms—of genetic testing and about possible treatment interventions. Nondirectiveness should remain the standard of care for reproductive planning and reproductive decisions surrounding prenatal diagnosis, as well as counseling concerning untreatable disorders. Full informed consent before genetic testing based on consideration of all the available options will continue to be essential whether or not the condition is treatable (see Chapter 8). Even when diseases are treatable and physicians offer medical advice about genetic testing and follow-up treatment, it will still be important for physicians to balance their medical advice with concern for their patient's right to make an informed decision different from the one recommended by the physician. This is especially crucial in genetic testing, since genetic information carries more personal, family, and social risks and burdens than many other kinds of medical information. Research to demonstrate high specificity and sensitivity will be especially critical before genetic tests for treatable disorders should be recommended by physicians or other health professionals. Where treatment or prevention is only partially effective, detailed counseling will be needed to describe the outcomes of various treatment options within the context of the natural history of the disorder. Patients need knowledgeable advisors to provide the latest information on possible outcomes to serve as the basis for informed decision making. Considerations of quality of life also need to be discussed when therapy is only partially effective. The committee believes that genetic counseling, if truly person centered, should be inherently flexible and variable. A standard of care should be based on the objectives of genetic counseling: to support the client in making voluntary informed decisions and help the client to cope with the emotional suffering related to genetic conditions. A goal of reducing the incidence of genetic conditions is not acceptable, since this aim is explicitly eugenic. Also, professionals should not harbor implicitly eugenic goals of preventing births or otherwise influencing reproductive or other decisions. The principle of autonomous decision making requires that providers not present any reproductive decisions as "correct" or advantageous for a person or society. Since couples at risk for genetic diseases in their offspring may differ in their reproductive choices, the decisions about whether to reproduce or to abort an affected fetus are individual choices that should be left to each couple. Similarly, a decision about whether to test for the presence of genes or gene complexes that predict the likely development of future disease that cannot be treated should be an individual decision, and will often require extensive genetic counseling to consider the benefits and burdens of such a choice; in these circumstances, some persons will choose testing and others will not. Even when treatment becomes possible, some of these decisions may be still be painful, costly, and uncertain, and still require extensive genetic counseling.

The committee believes that informed consent is essential to ensure individual autonomy in decision making. The committee therefore recommends that informed consent be obtained before any genetic testing (see Chapter 8). The committee also endorses the use of the guidelines developed under the auspices of the Alliance of Genetic Support Groups (AGSG) and American Society of Human Genetics (ASHG). More research is needed about what clients need to know in order to make an informed decision concerning genetic testing and about the most effective manner in which to educate patients in a nonbiased way, and about what standards should be set to ensure that all testing and screening programs meet requirements for informed consent.

The committee recommends the development of balanced descriptions of genetic disorders in culturally appropriate language that is respectful of persons with the disorder(s) and avoids the use of pejorative terms and language. Appropriate genetics professional groups should undertake the development of balanced descriptions of particular disorders, perhaps starting with more common disorders, such as neural tube defects, Down syndrome, and sickle cell disease for which screening is already widespread. Cystic fibrosis would also be a useful example for the development of such balanced descriptions, because the circumstances surrounding CF are changing, such as (1) rapid increases in the identification of additional alleles; (2) improvements in median life expectancy; (3) advances in conventional therapies; and (4) early trials of genetic therapies. Balanced materials should be developed with the participation of individuals and families affected by the disorder as well as by specialized genetics personnel. Such materials should also be tested before use and evaluated to determine their effectiveness and possible sources of bias in communicating information both about the particular disorder and about the potential risks and harms of tests available for the disorder. Any such materials developed and tested in this painstaking way should be shared widely. Dissemination should be carried out through professional societies and voluntary health organizations.

The committee endorses the National Society of Genetic Counselors (NSGC) policy statement on confidentiality. The genetic counselor, as the messenger of potentially devastating or discriminatory information, must honor the patient's desire for confidentiality except under rare special circumstances (discussed in Chapter 8) where breach of confidentiality is necessary to avert serious harm. These special circumstances may involve the potential effects of genetic information on other family members or the potential harm to others if the information is not disclosed. Should a counselor feel a professional or personal need to disclose genetic information to a party other than the patient with whom he or she is consulting, then the potential for that disclosure should be addressed before any diagnostic services are rendered.

Providing Genetic Counseling

As more genetic tests are administered, what is ultimately more important is not who provides such services, but that genetic counseling is provided and provided appropriately. To ensure that adequate genetic counseling is provided to all those seeking genetics services, a cadre of individuals trained in medical genetics and counseling will be needed. Primary care practitioners and allied health professionals will need a minimal basic understanding of medical genetics and counseling (see Chapter 6), and efforts must be made to ensure that the public is sufficiently educated to be informed consumers of genetics services (see Chapter 5). Despite the variety in the substantive information and the nature of genetic counseling, certain basic tenets should apply regardless of who is conducting the counseling and where it is being done. They include respect for the autonomy and privacy of the individual, the need for informed consent, and sensitivity to the tendency of the genetic counselor toward directiveness and paternalism (see Chapters 1 and 8). Research will clearly be needed to test methods for adapting genetic counseling to various providers and settings and to evaluate the impact of such changes.

Since genetics education and counseling are likely to be provided increasingly by primary care practitioners, the committee recommends that training programs be developed for these practitioners to help them perform these educational and counseling functions appropriately and to know when to refer patients to specialized genetics personnel . Innovative educational devices should be developed and evaluated (e.g., video, interactive computer systems, and on-line data bases), along with other resources to support genetics education and counseling in primary care settings. The adequacy of genetics education and counseling in primary care settings should also be evaluated, including behavior related to nondirectiveness in situations involving untreatable disorders or reproductive decision making. Genetics education and counseling tasks should be analyzed to determine what level of complexity can appropriately be delivered by various kinds of practitioners and in various settings, as well as to determine what degree of complexity will require the training and experience of specialized genetics personnel. The committee believes that the more complex and significant the implications and decisions to be made—including reproductive decision making and testing for untreatable late-onset disorders—the more training will be needed to provide appropriate genetics education and counseling.

The committee recommends additional research on issues in directiveness as genetic testing expands (see Chapter 9). The committee also recommends pilot studies on alternative approaches to genetic counseling, especially for untreatable, fatal, late-onset disorders such as Huntington disease. Such research should include adequate evaluation of aspects of directiveness, as well as the effects of differing levels of intensity of counseling and education both before testing and after testing (see Chapter9 ).

More research is also needed to understand clients' risk interpretation and assimilation, particularly to determine factors influencing the timing of genetic counseling interventions to take advantage of the teachable moment(s) for genetic counseling. The committee recommends that research on the best ways to provide essential genetics education and counseling—by a variety of providers in a variety of settings—precede efforts to streamline genetic counseling (some approaches to these issues are discussed in Chapter 6). However, the committee believes that understanding and recalling numerical risks are too limited as measures of the success of or need for counseling. Beyond mere comprehension of numerical risk, genetic counseling must assist individuals in determining their own acceptable risk. Since risk perceptions vary among individuals and among counselees and counselors, there is no one right way to present or interpret risk information; information must be balanced, with all the options given, and the process must be tailored to the client.

The committee also believes that ethnocultural sensitivity is essential in genetic counseling. The committee therefore recommends that genetic counseling should be tailored to the cultural perspective of the client, with special attention to differing cultural perspectives on the role of persons in authority. The committee recommends research to determine how best to provide genetic counseling in ways that are sensitive and appropriate to a variety of cultures and language. Such research should be planned, conducted, and evaluated with the participation of persons from the cultures being studied. Once developed, the results of this research should be widely disseminated not only throughout the professional genetics community, but among health care professionals generally. The committee also recommends that training in culturally appropriate language and delivery of genetics services be included in the preparation of all health and genetics professionals who are likely to provide genetic testing and counseling in the future. As one step in this process, genetic counseling and other genetics training programs should actively seek to increase the number of minority practitioners prepared to provide a variety of genetic counseling roles in a variety of settings (see Chapter 6).

The Contexts of Genetic Counseling

Newborn Screening

Newborn screening programs should be conducted for one purpose only—the identification of treatable disease and benefit to the newborn child (see Chapters 1, 2, and 8). In general, newborn screening should not be conducted if no therapeutic intervention is available (except for carefully defined peer-reviewed research studies). Thus, the committee recommends that newborns not be screened for the purpose of determining the carrier status of the newborn (see Chapters 1 and 8). In the event that a genetic disease is confirmed in a newborn, the parents should be counseled by a knowledgeable pediatrician, genetic counselor, or nurse, not only about the prognosis and treatment options for the newborn, but also about the significance of the findings should the parents choose to have additional children.

There have been suggestions that newborn screening could also serve as a strategy for providing carrier screening (Cunningham, 1992). These suggestions have been based on reasons of convenience, since most babies are born in hospitals where genetic screening programs are available. However, there are practical as well as social and ethical problems with obtaining and using information on carrier status obtained from newborns. First, as a practical matter, newborns determined to be carriers would have to be followed until their reproductive years to ensure that they are aware of their carrier status when they may choose to know the information. Second, the detection of carrier status in newborns might raise the anxiety level of parents without providing necessary resources to address such concerns, and may create personal and social stigma for the newborn child, including impact on insurability or other negative repercussions. Third, newborn screening is an inefficient way of detecting carriers, and other approaches to carrier screening in young adulthood give more options to people identified as carriers.

The committee believes that newborn screening is not the optimal way to determine genetic carrier status of the parents. If carrier status in the newborn or other children is revealed through genetic testing for treatable disease, parents should be informed prior to the screening of the newborn (1) of the possible availability of the information; and (2) the benefits and harms of knowing the carrier status of their children, including that the information has no relevance to the health of the newborn. Because of the risk of possible stigma affecting the development of the child, such information is best provided in the context of genetic counseling; the decisions of the parents about whether to receive such information should always be respected.

Finally, genetic services should not be disruptive to families. In general, the committee recommends that misattributed paternity detected through follow-up to newborn screening should only be revealed to the mother and should not be volunteered to the social father (see Chapters 2 and 8). This extremely sensitive issue is likely to become increasingly problematic as genetic testing expands, and the committee recommends research and evaluation of current policies and practices in genetic testing and screening related to identification of misattributed paternity.

Determining Carrier Status

The committee believes that, ideally, carrier screening should be conducted before a pregnancy occurs, thereby offering individuals more options should they find they are at risk for disease in their future offspring. The committee recognizes that carrier screening often takes place during pregnancy, but recommends the development of innovative methods for practical carrier screening of adults before pregnancy. Better public and provider education may increase preconceptional carrier testing. Research is needed to evaluate simple and innovative alternative methods of conveying such information, for example, in pamphlets written in easily understood language.

Research is needed to determine how well primary care practitioners are prepared for genetic counseling tasks and what education and training will be required to prepare them for expanded genetic testing and counseling (see Chapter 6). Counseling about identified carrier status may require referral for specialized genetic counseling, for example, in complex or untreatable disorders. In addition, when the sensitivity or specificity of the carrier test is less than optimal and there are social concerns about confidentiality and discrimination; under these circumstances, specialized genetic counseling may also be needed before any genetic test to help clients make a decision about whether to pursue carrier testing.

The committee believes that patients should disclose to relatives genetic information relevant to the health of those relatives. However, the committee recommends that confidentiality be breached only in rare circumstances to prevent serious avoidable harm under conditions described in Chapter 8. If there is a possibility that confidentiality may be breached, those circumstances should be fully disclosed in the informed consent process before carrier screening or any other type of genetic service. Under those rare circumstances where unauthorized disclosure of genetic information is deemed warranted, the genetic counselor should first try to obtain the permission of the person to release the information. To facilitate the disclosure of relevant genetic information to family members, accurate and balanced materials should be developed to assist individuals in informing their families and in providing access to further information, as well as access to testing if relatives should choose to be tested.

Prenatal Diagnosis

The committee is concerned that not enough genetic pretest education and counseling is now given surrounding prenatal diagnosis, and the committee recommends education and counseling both before and after prenatal diagnosis. In most cases, this education and counseling should be provided by a trained genetics professional or a primary care practitioner with special training in genetics. Special training in genetics is needed by anyone offering prenatal or other reproductive genetic testing (see Chapter 6). Prenatal diagnosis may also be offered for high-risk pregnancies, where there was a previously affected child or family member, both parents are carriers of an autosomal recessive disorder, or one parent carries a dominant trait.

Pretest genetic education and counseling should help people determine whether they wish to undertake prenatal testing. All of the options available when an abnormality is detected should then be discussed with the client before the test is given. The education and counseling process before prenatal diagnosis entails assessment of family, medical, and pregnancy history; information regarding testing and its implications; and supported decision making. In this process, certain ethical principles should be maintained: (1) testing will be voluntary; (2) confidentiality will be maintained; and (3) parental options will be protected and respected.

The committee recommends that additional research be conducted in two areas related to genetic counseling in prenatal diagnosis:

  • A variety of approaches to counseling and informing of results should be evaluated in terms of (1) what the client has learned; (2) whether the client has been offered the opportunity to explore his/her feelings and reactions to the information; and (3) general satisfaction with the way counseling was provided and information reported.
  • Additional research is needed on the impact of prenatal diagnosis, particularly its immediate and long-term impact on women. Such research should include the psychosocial implications—both at the time of pregnancy and later in life—of decision making about selective abortion of a fetus diagnosed with a genetic disorder that may develop early in life. The committee believes that such research will provide important information for the design and evaluation of genetic counseling for prenatal diagnosis for the future both in primary care and in specialized genetics settings.

Screening for Late-Onset Disorders

In general, neither physicians nor genetic counselors are yet well prepared to deal with the complexities of counseling for late-onset disorders. Therefore, the committee believes that such counseling initially should be provided in a specialized genetics center familiar with the genetics and psychosocial aspects of the disorder in the context of pilot studies. The committee recognizes that—once direct DNA testing can be performed in an individual for the single-gene defects predisposing to breast and colon cancer—there are not enough trained personnel to carry out the recommended counseling. The committee recommends research on genetic testing for breast and colon cancer, including psychosocial impacts, the impact of knowledge about susceptibility genes on the willingness to be tested, and compliance with recommended medical regimens. This research should include caregivers other than geneticists, since it is likely that much testing of this kind will be carried out by nongeneticists in the future.

Multiplex Testing

The committee recommends the development of innovative methods for multiplex testing, with the grouping of tests by related types of disorders that raise similar issues in terms of the significance of their implications (including the availability of effective treatment and how soon treatment needs to be instituted), to allow appropriate education, informed consent, and genetic counseling. This will be a critical issue for the future of genetic testing and genetic counseling. Tests should not be grouped together just because it is technically feasible or economically advantageous; for example, a test for PKU that is treatable should not grouped together with a test for Huntington disease that is not treatable. Tests should be grouped with other tests that have the same implications and issues for genetic education and counseling so that people can make informed decisions about genetic testing; tests should not be grouped according to marketplace exigencies. Research will be required to develop and evaluate innovative methods for the grouping of genetic tests in a way that will make it possible for multiplex testing to embody the committee's basic principles on informed consent and the need for genetics education and counseling (see Chapters 2 and 8).



It is important to distinguish between the terms ''positive result" and "negative result" in both lay and medical terminology. While a physician would describe test results that reveal the presence of a fetal abnormality as "positive" in terms of detecting the condition for which the test was defined, a lay person would be most likely to describe this result as "negative" in social, emotional, or psychological terms (see discussion of language of genetics, Box 4-1).


These guidelines are available from the Alliance of Genetic Support Groups, 35 Wisconsin Circle, Suite 440, Chevy Chase, MD 20815, 301-652-5553.


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Copyright 1994 by the National Academy of Sciences. All rights reserved.
Bookshelf ID: NBK236049


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