October 28, 2026

@michaelokun

Genetic testing in Parkinson’s: We have the technology, but do we have the expertise? What resonates with me about this important new Movement Disorders paper by Alessio Di Fonzo and Francesca Magrinelli is their reminder that genetic testing is advancing faster than our ability to interpret the results and explain what they mean to patients and families. We can now identify genetic changes associated with Parkinson’s disease, dystonia, ataxia, and other movement disorders, sometimes opening doors to targeted treatments and clinical trials. But finding a genetic variant is not the same as understanding its significance. For example, carrying a GBA1 or LRRK2 variant does not necessarily mean someone will develop Parkinson’s disease, and a result that is misunderstood can create unnecessary anxiety or lead to inappropriate medical decisions. The authors provide compelling clinical examples in which expert interpretation changed a diagnosis, identified a treatable condition, or uncovered an important risk for family members. I particularly agree with their call to train more neurologists in neurogenetics, integrate genetic counselors into our clinical teams, and create dedicated positions for specialists who can translate complex genetic findings into meaningful care. As we move toward precision medicine, I worry that we are investing heavily in sequencing technology without making equivalent investments in the people who must interpret and communicate the results. My takeaway is simple: A genetic test should never be the end of the conversation. It should be the beginning of better-informed, more personalized care. https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.70594