Mount Sinai researchers explain the implications of genetic testing for providers

Ron Do, PhD, Associate Professor, Charles Bronfman Institute for Personalized Medicine at Icahn School of Medicine at Icahn School of Medicine at Mount Sinai, and Iain Forrest, MD-PhD candidate in Dr. Do’s lab, discuss the implications of their study for providers and how age plays a role in the penetrance of genetic variants.

Transcription

What do providers need to understand what should happen next if a positive result comes back from a genetic test?

Forest : This is an important question because, as clinicians, the most relevant question in translating this study would be, “what are the implications for me when I get genetic testing for my patients?” Our hope in our aspiration is that penetrance or these quantitative estimates of disease risk with variants can one day better guide clinicians when stratifying and assessing the risk of their patients. I would add that genetic test results at this time, if a pathogenic variant is identified, it should be understood that they could actually have a low, medium, or high probability of disease, AKA a wide range of penetrance. Future studies are needed to refine these disease risk estimates and hopefully test whether changes in clinical care are warranted based on an individual’s penetrance of pathogenic variants.

How does an individual’s age intersect with the results you found?

Do: Age of disease onset is relevant to penetrance, and this is because early onset diseases will manifest in both younger and older individuals, while late onset diseases will not manifest. than in older individuals. We examined this in our study and found that penetrance increased for late onset disease when examining older vessels. Conversely, for early-onset diseases, penetrance remained the same at all different age thresholds.