Genes & Genetic Counseling with Dr. Caralynn Wilczewski - Episode 96

Steve Sullivan (0:01)

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Every team, every topic, everywhere, this is Belize.

Hey, everyone. Welcome back to my podcast, Anatomy and Physiology, Bit by Bit. I'm your host, Dr. Steve Sullivan coming to you from Bucks County, Pennsylvania, just outside of Philadelphia where I've been teaching A&P since 2002 Today's episode is a real special one. I got a really nice email about a couple of months ago from a listener who said she is a geneticist who is now working as a genetic counselor, and this podcast was helping her review A&P as she got deeper into the clinical side of genetics. Immediately, I started thinking, listener, this should be a guest. Genetic counseling is huge right now, and it plays a role in an enormous array of clinical scenarios. So, I asked if she would like to be a guest on the show, and she graciously accepted. So, today we're exploring an area of health care that sits right at the intersection of genetics, medicine, technology, and patient care, and that is genetic counseling.

Now, as always, this and every episode of this podcast is for educational purposes only. In no way should anything you hear in this show be taken as medical advice. If you or someone you know is displaying any of the signs or symptoms mentioned in this podcast, please contact a medical professional immediately. Now, genetics has always been a fundamental part of anatomy and physiology. Our DNA influences everything from the proteins our cells produce to our susceptibility to certain diseases. But as genetic testing has become faster, more sophisticated, and increasingly available in clinical medicine, health care providers are faced with an important question. What do we actually do with all that genetic information? That's where genetic counselors play such an important role. Now, if you haven't listened to Episode 79, Genetics for A&P, I recommend you do that. It will be a good background for this episode.

Genetic counselors help patients and families understand how inherited and genomic information may affect their health. They help interpret genetic test results, assess the likelihood of inherited conditions, explain sometimes complicated concepts in understandable terms, and help patients make informed decisions about testing, treatment, screening, and family planning. And increasingly, genetic counseling is becoming relevant far beyond the traditional areas of prenatal genetics and inherited disorders. It now touches oncology, cardiology, neurology, pediatrics, pharmacology, and many other areas of health care.

So my guest for this episode is Dr. Caralynn Wilczewski, a genetic counselor and chief laboratory genetics and genomics fellow at the National Human Genome Research Institute within the National Institutes of Health. Yeah, if you're thinking what I'm thinking, how did I get this person on my show? This is an enormously impressive resume, and this conversation will not disappoint. Dr. Wilczewski earned her PhD in genetics and molecular biology from the University of North Carolina at Chapel Hill, and her master's degree in genetic counseling through the joint program at Johns Hopkins University and the National Institutes of Health. In her current role, she provides genetic counseling and conducts clinical research using what is known as a genotype first approach, with the goal of helping advance predictive genomic medicine. Rather than always beginning with a patient's symptoms and then searching for a genetic explanation, a genotype first approach can begin with a particular genetic variant and then investigate how that variant may or may not manifest clinically. It represents an important shift in the way we think about the relationship between genes, disease, and potentially even disease prevention.

In our conversation, Dr. Wilczewski and I discussed the fundamentals of genetics and genomics, what genetic counselors actually do, how genetic counseling is used in clinical practice, and how genetic testing is performed and interpreted. We also talked about what genetic information can tell us, what it sometimes can't tell us, and why interpreting a genetic test is often much more complicated than simply finding a mutation.