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You’re Perfectly Healthy and You Take a Genetic Test. What Happens Then?

Recently, the Annuals of Internal Medicine published a new paper about the results of the four-year MedSeq Project, the first-ever randomized trial conducted to examine the impact of whole genome sequencing in healthy primary care people. Read more to find out the results. 

In the MedSeq Project, 100 healthy patients and their physicians were randomized so that half of the patients received whole genome sequencing and the other half did not.

Some food for thought from lead author Jason Vassey, an HMS assistant Professor of Medicine at Brigham and Women’s and primary care physician at the VA Boston Healthcare System.

“Sequencing healthy individuals will inevitably reveal new findings for that individual, only some of which will have actual health implications. This study provides some reassuring evidence that primary care providers can be trained to manage their patients’ sequencing results appropriately, and that patients who receive their results are not likely to experience anxiety connected to those results. Continued research on the outcomes of sequencing will be needed before the routine use of genome sequencing in the primary care of generally healthy adults can be medically justified” . 

As mentioned in my previous blogs about genetic testing like pharmacogenetic testing, the problem of not knowing the probability of getting a certain disease after getting positive results of having the genetic variant, or possible increased chances of getting the disease. Heidi Rehm, HMS associate professor of pathology at Brigham and Women’s and director of the Laboratory for Molecular Medicine at Brigham and Women’s brought up a solid argument that although genetic testing allows scientists to figure out by how much higher of a risk rare diseases are becoming throughout the population, “the penetrance, or likelihood that persons carrying one of these variants will eventually develop the disease, is not fully known”. 

What does this mean for you? This means that if you do take a pharmacogenetic or genetic test, it is best to decipher the results with caution, meaning not by yourself and preferably with a healthcare professional.




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