https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html
I didn't initially expect to like this article, and based on the reader comment section, many physicians didn't like it. But after reading it more closely, I think the reporters did a great job presenting complex issues. A key message here is that as medical insiders (and a medical laboratory insider in my case), it's easy for us to say that physicians and patients should know better than to make major decisions based on a screening test alone. But the reality is that screening tests have consequences. These reporters interviewed a number of mothers who received prenatal screening tests indicating that their babies probably had fatal chromosomal defects, yet the tests turned out to be false positives. The reporters also made a convincing case that many of these cases result in pregnancy terminations in the absence of confirmatory tests (which are expensive, invasive, and can't always be performed prior to state-level legal termination deadlines).
Bottom line: screening needs to be done in responsible ways. Professional groups such as ACOG and the American College of Medical Genetics understand these issues well. Many commercial laboratories do not (or maybe they just cynically don't want to).
--Brian Jackson
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Brian R. Jackson, MD, MS (he/him)
Assoc. Professor of Pathology (Clinical), University of Utah
Medical Director of Support Svcs, IT and Business Development, ARUP Laboratories
500 Chipeta Way, Mail Code 933
Salt Lake City, Utah 84108-1221
phone: (801) 583-2787, extension 3191
toll free: (800) 242-2787
fax: (801)584-5108
email: brian.jackson@aruplab.com
web: www.aruplab.com
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