Mount Sinai Researchers Explain Implications of Genetic Testing for Providers

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

Transcript

What do providers need in order to understand what should happen next if a positive result does come back on a genetic test?

Forrest: This is an important question because, as clinicians, the highly relevant question in translation of this study would be, "what are the implications for me when I obtain a genetic test for my patients?" What we hope in our aspiration is that penetrance or these quantitative estimates of risk for disease with variants will one day be able to better guide clinicians when they stratify and assess the risk of their patients. I would add that genetic test results right now, if a variant that's pathogenic is identified, it should be understood that they actually might have low, medium or high probability of disease, AKA a wide range of penetrance. Future study is needed to refine these estimates of disease risk, and hopefully test whether changes in clinical care are warranted based on the penetrance of an individual's pathogenic variants.

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

Do: Age of onset for diseases is relevant for penetrance, and this is because early onset diseases will manifest in both younger and older individuals, while late onset diseases will only manifest in older individuals. We looked at this in our study and found that penetrance increased for late onset diseases when examining higher age vessels. Conversely, for early onset diseases, penetrance remained the same across all different age thresholds.