About Genetic Services
What is a Genetics Consultation?
A genetics consultation involves evaluation of an
individual or family for one or more of the following:
- Confirming, diagnosing or ruling out a genetic
- Identifying medical management issues
- Calculating and communicating genetic risks
- Providing or arranging for psychosocial support
What Happens in a Genetics Consultation?
Genetics consultations usually involve one or more
visits and phone calls with genetic care
providers. Occasionally, consultations can take place
in groups (e.g., cancer or prenatal consultations) or by
phone (e.g., routine or uncomplicated matters).
Assessment: Gathering information
- Explore with the patient and family:
- Reason for referral
- Understanding of genetics
- Diagnoses under consideration
- Perception of disease status or risk
- Beliefs about cause of disease
- Perception of disease burden
- Document patient's birth history, past medical
history and current status.
- Obtain directed family history in pedigree form using
standing symbols, including:
See Sample Family
History and Pedigree (pdf).
- The patient's first degree (children, siblings,
parents) and second degree (grandparents,
grandchildren, aunts, uncles, nieces, nephews)
relatives, and further removed as appropriate
- Status of current pregnancies
- Ethnic background
- Presence of consanguinity
- Obtain and review additional medical records,
including diagnostic testing, on patient and affected
family member(s) as needed.
- Review the family's social history, education,
employment and social functioning.
- Assess the family's sources of psychosocial support
(community, religious, family).
- Identify potential ethical issues such as
confidentiality, insurability, discrimination and
- Perform physical examination of the patient and other
family members as needed.
Evaluation: Interpreting medical and family history,
results of physical examination and tests
- Consult relevant references.
- Compare patient's history and exam to known
- Discuss diagnostic impression.
- Clear diagnosis - Share information about the
- Differential diagnosis - Suggest further tests or
- Unknown diagnosis - Discuss what known diagnoses
are ruled out, follow over time
Communication: Sharing information about the
condition (within the family's ability to understand the
- Review the details about the disorder in question
- Expected course of the disease
- Management issues, and possible treatments or
- Underlying genetic cause if known, including
pattern of inheritance
- Describe risks to family members compared with
general population risks.
- Discuss reproductive options, if and when
appropriate, which may include:
- Pregnancy with prenatal testing
- Pregnancy without prenatal testing
- Remaining childless
- Parenting by adoption
- Pregnancy by egg or sperm donation
- Pregnancy following preimplantation genetic
Support: Helping the family cope
Follow-up: Maintaining ongoing communication
- Arrange for follow-up diagnostic testing or
management appointments, or communicate this need to the
referring healthcare provider.
- Document the content of the consultation for the
referring healthcare provider and for the patient when
- Contact the patient to assess level of understanding
and response to decisions made.
- Encourage family to recontact the clinic when
considering pregnancy or for updated information.
- Be available to answer future questions.
Where Can You Get a Genetics Consultation?
Clinical genetic services may be located in a hospital
or medical center or in a private office. Usually, genetic
services are provided through a perinatology or genetics
clinic (see Clinic Directory on
this site) which may be specialized by age group (e.g.,
prenatal, pediatric, adult) or by medical condition (e.g.,
cancer genetics). Sometimes genetic services are offered as
part of a multidisciplinary evaluation in a specialty
Who Provides Genetics Consultations?
Trained genetic practitioners
include: medical geneticists, genetic counselors, and
genetic nurses. The role of the genetic counselor or nurse
is similar to that of a nurse practitioner. Patients may be
seen independently by a genetic counselor or nurse, but in
cases where a diagnosis needs to be established, a medical
geneticist must be directly involved.