Non-invasive prenatal testing a global reality, but what’s next?

| April 15, 2014
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(Credit Neeta Lind/Flickr)
This article or excerpt is included in the GLP’s daily curated selection of ideologically diverse news, opinion and analysis of biotechnology innovation.

It’s now possible to genetically test a fetus for disease at seven weeks of pregnancy or less, without invasive or somewhat risky procedures. This technology, called noninvasive prenatal testing (NIPT), only requires a maternal blood sample, which contains enough free-floating cells from baby to properly analyze fetal DNA. 

NIPT has become mainstream in the United States over the last few years, especially for moms over 35 and those who have other risk factors. Likewise, it’s been exported to countries around the world, with some huge benefits and some potentially troubling off label uses in areas where having a boy is preferred to having a girl.

Because the test involves only a blood draw and no other special training, many medical professionals are already qualified to give it. There is no requirement for a sterile environment, local anesthetic or risk of miscarriage as with amniocentesis and chorionic villus sampling (CVS), so NIPT can be given in more clinics. This makes genetic testing available to a much wider population of women.

For those women who will chose to terminate a pregnancy based on the results of genetic screening earlier is safer and medical abortion, rather than surgical may be a treatment option where legal. Traditionally, amnios and CVS can’t be used until 10 months or more.

But in countries where sex selective abortion is still very much an issue, this earlier testing is difficult to regulate. Subhashini Chandrasekharan, Duke University geneticist and ethicist wrote in Science Translational Medicine:

 “Companies currently offering NIPT in China and India are aware of these national laws (forbidding return of information about fetal sex) and do not advertise sex testing. However, fetal sex-determination tests that use less-validated methods, such as urine or saliva screening, are already marketed directly to consumers and remain unregulated in many jurisdictions.”

When these tests cross international lines from sample collection to analysis, it becomes even less clear if countries will be able to regulate them, even theoretically. In February 2014, China banned genetic testing because of ethical implications, despite being home to some of the largest genetic analysis companies in the world.

The relative costs of the test can also be a problem. In Brazil for instance, NIPT is sold for $1492, more than double median monthly income. This means rich women will be much more likely to get the tests, and “differential use of these new technologies may exacerbate inequalities in prenatal care already observed in rural and resource-poor areas,” according to Chandrasekharan. Socio-economic discrepancies in testing and subsequent termination of affected pregnancies may also shift the perception of genetic diseases to a problem of poverty, a stigma that would be a disservice to people with these conditions and their families.

From Chandrasekharan:

“Although research on stakeholder experiences and best practices is emerging in the United States and Europe, there is a need to solicit the views of stakeholders from developing countries… It is in the best interests of everyone—patients, providers, regulators and states—to consider these issues and begin a dialog as soon as possible.”

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The GLP featured this article to reflect the diversity of news, opinion and analysis. The viewpoint is the author’s own. The GLP’s goal is to stimulate constructive discourse on challenging science issues.

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