Genetic Counselor

A genetic counselor is a medical professional who serves as a liaison between an individual or family and a physician or medical team. The counselor in­terprets genetic test results and provides information to help patients make medical or lifestyle choices, based on knowledge gained from genetic tests.

Genetic counselors are trained in genetics, statistics, and psychology, and usually have master’s degrees from genetic counseling programs. Nurses, social workers, physicians, and Ph.D. geneticists also do genetic counseling. The job requires a combination of technical expertise and compassion—a genetic counselor must love working with people and be able to offer com­fort under stressful circumstances.

During a typical session, the counselor asks many questions from which he or she constructs a pedigree, which is a family tree that depicts certain traits or illnesses. From this information, he or she can recognize or deduce the mode of inheritance (dominant or recessive, sex-linked or autosomal), predict which family members are likely to be affected, and suggest specific medical tests.

The first genetic counselors graduated from Sarah Lawrence College in Bronxville, New York, in 1971, against a backdrop of concern over such medical matters as test tube babies, heart transplants, and recombinant DNA (deoxyribonucleic acid) technology. At that time, genetic testing for sickle cell disease and Tay-Sachs disease was a prelude to the more widespread testing of the twenty-first century.

Until the early twenty-first century, patients seeking genetic counseling either had family histories of rare, single-gene disorders or were at high risk of carrying a fetus with a chromosomal or congenital problem, due to “ad­vanced maternal age” or exposure to harmful substances (teratogens), re­spectively. With the sequencing of the human genome, the spectrum of conditions that a genetic counselor confronts is broadening considerably to include much more common disorders, such as cancers and cardiovascular disease that reflect the input of several genes and the environment. Rather than offering definitive diagnoses based on detecting single abnormal genes, genetic information is more likely to take the form of elevated risk estimates.

References

Kling, James. “Genetic Counseling: The Human Side of Science.” The Scientist 13 (19 July 1999): 1.

Lewis, Ricki. “Genetic Counselors Struggle for Status.” The Scientist 6 (31 August 1992): 1.

Human Genetics: Concepts and Applications, 4th ed. St. Louis: McGraw-Hill Higher Education, 2001.