How Widespread Prenatal Testing for Microdeletions Can Hurt Patients and Why the Genetic Testing Industry Needs More Accountability

The New York Times published an important investigative piece this week, exploring concerns about expanded prenatal genetic screening. Specifically, the article focuses on the practice of prenatal screening for the possibility of a microdeletion condition in the fetus. The authors Sarah Kliff and Aatish Bhatia walk readers through some of the microdeletions that are often included as part of prenatal cell free DNA screening and discuss issues with the way these tests are marketed as providing accurate results and certainty when in fact most positive screen results end up being false positive.  The article states that in interviews,

“14 patients who got false positives said the experience was agonizing. They recalled frantically researching conditions they’d never heard of, followed by sleepless nights and days hiding their bulging bellies from friends. Eight said they never received any information about the possibility of a false positive, and five recalled that their doctor treated the test results as definitive.”

The results of this investigation into patients’ experience with these screenings are so disheartening, and unfortunately are also consistent with what we have...