by Grace Bellinger
We are surrounded by a plethora of genetic health information. Whether we are doing an at-home DNA test or being screened in a clinic for potential inheritance of sickle cell disease, it has become critical to be able to understand and interpret the implications of our own genetic makeup for our everyday lives. In clinical and research settings, genetic counselors at the forefront of this interpretation and dissemination. The mission of the genetic counseling profession has remained consistent since its inception and aligns with the modern implementation of precision medicine. The National Institutes of Health define precision medicine as “an emerging approach to disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle.”
Historically, clinical genetic counselors worked primarily in the fields of pediatrics, obstetrics, and cancer. However, specialization has recently extended into specialties such as cardiology and neurology. With the development of technologies such as next-generation sequencing, more generalist genetic counselors may be warranted to provide information about the entire genome to patients. I sat down with Debra Duquette to discuss the profession of genetic counseling and its utilization of big data.
Grace Bellinger (GB): Could you tell us a little bit about what genetic counseling is and what it entails?
Debra Duquette (DD): Essentially, it is trying to help interpret an individual’s genetic, scientific, and medical information based on genes and family history as well as lifestyle and behavior. [This can be useful] for patients, families, or providers. The formal definition of genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. The process includes three things: 1) interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; 2) education about inheritance, testing management, prevention, resources, and research; and 3) counseling to promote informed choices and adaptation to the risk or condition.
About the Author
Grace Bellinger is a PhD student in the Northwestern University Interdepartmental Neuroscience (NUIN) graduate program. She obtained her B.S. in kinesiology from the University of Wisconsin – Madison and also has a Master’s in motor control and behavior from UW-Madison. She enjoys singing, engaging the community, and playing trivia.