Prior to my experience as a pregnant patient, I had no exposure to genetic testing nor counseling, and I certainly was not aware of genetic counseling as a career option. My OBGYN  recommended genetic testing and counseling for me during both of my pregnancies (I had my first baby at age 40). I vaguely remember the experience, but now working in genomics, I better understand the power of genetic testing and the equally important role of a genetic counselor.

The Centers for Disease Control and Prevention (CDC) explains, “genetic tests have been developed for thousands of diseases. Most tests look at single genes and are used to diagnose rare genetic disorders, and some genetic tests look at rare inherited mutations such as BRCA1 and BRCA2, which are responsible for some hereditary breast and ovarian cancers.”

Genetic Counselors have the very important role of explaining the results of these tests and providing patient support beyond the doctor’s visit. Now, having the lived experience of going through genetic testing and interacting with a few colleagues who are genetic counselors, I have new appreciation for how they help patients understand information during what is often a stressful time. They have the knowledge and training to synthesize genetic information and, in partnership with physicians, they provide patients with an understanding of often complex information and support them in making informed decisions about their care and treatment.

The National Academies of Sciences, Engineering and Medicine recognize that the field of genetic counseling is not as diverse as our U.S. population. They have begun to explore the structural and social barriers to entering the field. This is important because, as genetic testing becomes more available, having professionals poised to help all parts of our community understand these results will be critical.

Why does all of this matter to you?

• Because you may know a young person who might be interested in integrating their interest in caring for patients with their interest in genetics. You could point them toward a career in genetic counseling.
• Because you may one day need genetic testing, and having some understanding of what genetic counselors do would be helpful.
• As we move towards the future of precision medicine, genetic counselors serving at the interface of the physician and patient need to be a table stake. That’s why it matters.

Lesson 2 is now complete. If you missed Lesson 1, you can find it here.

Dr. Lisa

P.S. Our theme song this week is “Change” by Barry White