Questionable genetic counseling

Questionable genetic counseling

The Boston Globe reports today that some genetic counselors are ordering tests during pregnancy without revealing their financial ties to the testing companies. And since some percentage of the tests will have false positive or false negative results, the consequences can be devastating.

Devon and Mike Summersgill had believed baby Kate was all but certain to be born with the intellect-stunting disorder because of a blood test Devon’s doctor recommended during her 2014 pregnancy. Even after the birth, when their baby looked fine, their genetic counselor, Laura Limone, insisted that the result of the test was not a mistake, Devon Summersgill says.

Only after the Summersgills agonized over Kate’s future and spent almost $2,000 more on another test were they satisfied that Limone was wrong — their baby was fine. And when they learned that Limone had a financial relationship with the company that makes the test, called MaterniT21 PLUS, they wondered whether money had influenced the counselor’s advice.

Given that the majority of children diagnosed with Down syndrome in utero are aborted1, this conflict of interest combined with false confidence in the test results is only increasing the death toll for the unborn. 2

Genetic testing can be a boon to parents, especially as researchers find more and more ways of treating babies before birth, but also as a way to help parent prepare for the arrival of children who will have special needs. But the medical community must do a better job of giving the complete picture to patients and of policing its own ranks.

  1. We often hear that 90% are aborted, but this is based on a questionable European survey, not actual US data. Better surveys still show that over 50% of prenatal diagnoses of Down syndrome lead to abortion. ↩︎
  2. I don’t want to suggest that it’s okay to abort babies with Down syndrome. It’s not. But false positives from unnecessary tests only compound the horror. ↩︎
Written by
Domenico Bettinelli