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NIPTs Providing Useless Information?

As non-invasive prenatal testing technology becomes increasingly more popular and the limits of the technology expand, some doctors and genetic counselors are questioning whether such tests are benefitting patients, the MIT Technology Review reports.

The article shines a particular light on Sequenom's newly launched MaterniT Genome NIPT, though it also notes that other firms, such as China's Berry Genomics, are preparing to make available tests that go beyond detecting conditions such as trisomies 21, 18, and 13 to also report DNA alterations whose medical significance may not even be known. 

For example, the MaterniT Genome test will alert clinicians to "any chunk of missing, duplicated, or misplaced DNA larger than 7 million genetic letters — about 1/20th the size of a chromosome," the article states. While such sensitivity provides parents with unprecedented information, some doctors' groups say that not enough data exists to support the notion that such results have any clinical use. The article notes that the American Congress of Obstetricians and Gynecologists does not recommend the routine screening for smaller chromosome defects.  

Genetic counselor Katie Stoll, who is a member of the nonprofit Genetic Support Foundation, tells the magazine, "Bigger is sold as better. The companies are driving this, not patients and not providers." 

Not everyone agrees, of course, and Columbia University professor Ronald Wapner, who has worked with industry to develop NIPT technology, says he sees a "grand recognition. Why would you not want to see these things? Some people are resistant but it's because these are brand new thoughts. We need more information, not less." 

What is not up for debate is that NIPTs have become very successful very quickly. The magazine notes that during the past four years, not long after NIPTs first entered the market, the rate of amniocentesis, or invasive biopsy, performed at many hospitals has dropped by more than half. 

Meanwhile, insurers are getting aboard and are reimbursing for the use of the technology not only for high-risk pregnancy populations but also for the average-risk population. Recently, our sister publication GenomeWeb Daily News reported that Anthem Blue Cross Blue Shield changed its policy to say NIPTs are medically necessary for the average- and low-risk populations. Other insurers are similarly beginning to cover the technology, at least for the average-risk population.