Practice of Medicine

Publication Details

Once a genetic test is complete, the results have to be interpreted by a professional and then delivered to the patient. When you move from performing a test to interpreting a test, you enter the realm of medical practice and clinical utility.

This discussion explored the practice of medicine from the perspectives of primary care physicians and pathologists. It also emphasized the unique needs of rare disease programs.

The panelists were (1) Andy Faucett, MS, CGC, Chair, Collaboration, Education, and Test Translation Program (CETT) and Emory University, (2) W. Gregory Feero, MD, PhD, Chief, Genomic Healthcare Branch, National Human Genome Research Institute, NIH and (3) Margaret Gulley, MD, Molecular Pathologist and Geneticist, University of North Carolina (UNC) Department of Pathology and Laboratory Medicine. Sharon Terry, MA, President and CEO, Genetic Alliance, moderated this panel.

Rare Diseases

Faucett opened the discussion by describing the CETT program model. CETT “promotes the translation of rare disease genetic tests from research to clinical laboratories. This is achieved through collaborations among clinicians, laboratories, researchers and patient advocates” [note 4].

It can be difficult for rare disease programs to receive adequate attention and funding. It can also be challenging to locate and enroll enough patients to support the necessary studies. During the course of this Summit, a great deal of support was expressed for a risk-based regulations scheme. Faucett cautioned that rare disease testing could suffer under such a scheme. A test could have a high degree of risk but a low demand in the marketplace, a scenario that provides no financial incentive for investors. Conversely, CETT may prove to be a good model for moving tests from research to clinical practice, both in its assessment of what constitutes clinical utility and in its collaborations between researchers, clinicians, laboratories and advocates.

Primary Care Physicians

The primary care physician (PCP) is often the individual who receives genetic test results from a laboratory and then has the responsibility of transferring the information to the patient. Feero presented the primary care physician’s perspective. Primary care physicians assume analytical validity. They question the clinical validity and clinical utility of tests. The key question for the PCP is whether or not the test will benefit the individual patient. Everyone who is involved in genetic testing must realize that PCPs are extraordinarily pressed for time. Most PCPs see a high volume of patients. PCPs need results that are clear and concise, and they need help with interpretation—they do not have time to do the homework.


Gulley presented the pathologist’s perspective on genetic testing. Pathologists are highly trained physicians. After their medical training, they spend four years in the lab. Pathologists interpret test results as a service to physicians.

Every CLIA-certified lab is required to have certain personnel on staff. It must have a:

  • doctor of medicine
  • lab director
  • technical supervisor
  • clinical consultant

CLIA regulations detail the education, certifications, and responsibilities of lab personnel. The clinical consultant “must be qualified to consult with and render opinions to the laboratory’s clients concerning the diagnosis, treatment and management of patient care” [note 5]. Thus, laboratories ensure “not just a test that’s done right but that the right test is done.”

Research laboratories such as Gulley’s often need to decide when a test is ready to “go live,” or be offered to the public via a physician. How much evidence is adequate? Molecular pathologists often cannot wait for perfect evidence. This decision can be especially difficult to make in the case of rare disease tests.

Gulley described her judgment process, during which she asks herself two questions:

• Would I give this test to my loved ones?

• Can I imagine myself in a courtroom adequately defending my decision to go live with the test?

Tension Between Science and Art

Terry commented that there is tension between the art and science of medicine, and she asked the panelists how that tension influences their worldview. Feero replied that the clinician needs wide latitude to make decisions, but once a test becomes commonplace a decision-making protocol is usually established. Gulley said that she believes in evidence-based medicine but realizes that there are not enough resources available to thoroughly investigate every test.

Tests do reach the marketplace with knowledge gaps still in place. Is post-market test data good for filling in those knowledge gaps? It is difficult to find funding for data collection and analysis once a test is on the market. The CETT program provides a fantastic model for data collection, but it has very limited funding. Manufacturers would be the best source of funding for this data, but they have biases.

Panelists commented on educational information:

  • There is a wide variance in the quality of information patients receive.
  • Lab reports should be limited to one page. Sometimes they are long and complicated because of liability concerns, but the effect is that the core information is not emphasized enough.