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At present, prenatal gene tests detect major abnormalities—such as three copies of the 21st, 18th or 13th chromosome, which lead, respectively, to Down, Edwards and Patau syndrome. These measures are a definite safety improvement over earlier procedures to check the genes of the unborn. Previously such chromosomal abnormalities could be detected prenatally only by invasive tests, such as amniocentesis, which carry a small risk of triggering a miscarriage.
The new screens were originally offered to women older than 35 years, who are at a higher risk of delivering babies with Down syndrome or other genetic maladies. But now companies are marketing such tests to women with low-risk pregnancies as well. Last November a market research firm reported that the tests accounted for $563.4 million worth of sales in 2014—a figure that is expected to quadruple by 2022.
Federal regulations have not caught up with the advancing technology, however. Under current rules, such gene screens are considered lab tests, which, unlike new drugs, do not have to show they offer clinically meaningful benefits. Instead manufacturers only need to demonstrate that their tests generate results within certain statistically acceptable limits of error.
This standard made more sense in the days when blood tests looked primarily for individual compounds, such as sugar molecules or hormones. Gene tests are different: they take a lot more interpretation and analysis to determine if a suspicious result indicates a true genetic aberration or merely a benign variation.
Read full, original post: We Need More Proof That Prenatal Gene Screens Are Beneficial
