Next-generation sequencing powers noninvasive prenatal testing. [Natera]
Next-generation sequencing powers noninvasive prenatal testing. [Natera]

 A group of five leading genetic testing companies operating in the noninvasive prenatal testing (NIPT) space has formed the Coalition for Access to Prenatal Screening (CAPS), with the goal of providing education about, and increase the use of, cell-free DNA (cfDNA)-based pregnancy screening tests. Founding members of CAPS are: Illumina, Counsyl, Progenity, Natera, and LabCorp (through its Integrated Genetics specialty laboratory).

Launched in early January, the first mission of CAPS is to form a clinical advisory board comprising independent physicians, which will provide an independent medical perspective on the use and efficacy of the tests, and to help guide members on how to best provide education on the benefits of NIPT. The tests screen for chromosomal abnormalities in the fetus, including Down syndrome, trisomy 18, trisomy 13, sex chromosome abnormalities, and others.

“If you look at NIPT—it was introduced in 2011—it is one of the most rapidly adopted technologies for testing in medicine,” says Arnold W. Cohen, M.D., chairman emeritus of the department of obstetrics and gynecology at the Einstein Healthcare Network, and chairman of the CAPS clinical advisory board. “In three or four short years, it became standard for women who were over 35, or have a history of having a baby with Down syndrome or an abnormality on ultrasound, or a family history. We think it should be used for anyone who wants it, the way the testing was first approved for high-risk patients.”

Members of the new coalition tout the accuracy and specificity of the tests, which, as a result, have the potential to significantly reduce the need for more invasive testing methods, such as amniocentesis and chorionic villus sampling (CVS), that pose some risk to the pregnancy.

Starting in 2007, the American Congress of Obstetricians and Gynecologists (ACOG) provided care guidance that obstetricians need to provide education and offer screening for chromosomal abnormalities to all pregnant women. At the time, however, even the best noninvasive testing methods had 5% false positive rates and specificity of only 80% to 90%.

“That meant one in 20 women had to receive the scary phone call that her test had come back indicating a high risk,” says Kimberly Martin, M.D., senior global medical director for women’s health with Natera. “But we also knew that the likelihood one of those women was actually carrying an affected fetus was less than 5%. So, most of those women came back for more testing, very nervous, and 95% were carrying a healthy fetus.”

By contrast, NIPT identifies less than 1% of women as high risk, and of those 50% have an affected fetus, notes Dr. Martin, who practiced for more than 20 years as an OB/GYN and is also a licensed clinical geneticist.

It is this quantum leap in accuracy that has so many excited about the important role NIPT can play in improving detection and eliminating unnecessary, risky, and costly invasive procedures. But in the medical community, change often comes slowly, and CAPS’ first priority to increase adoption rates is to provide solid education and data detailing the improvement in prenatal care quality that NIPT can provide.

“Showing how this technology performs in the context of the current standard of care with the clinicians is a big activity in terms of how many patients OB/GYNs are treating every day,” notes Jeff Hawkins, VP and general manager of reproductive genetic health at Illumina. “The current standard of care is something that has been ingrained for decades, and moving clinicians from something they are very comfortable with to something new is a big effort.”

Despite care guidelines on patient counseling for chromosomal abnormalities that predate the availability of NIPT, Dr. Martin believes CAPS can play a vital role in helping obstetricians meet this need. “I think what has happened is NIPT has unmasked the fact that we have not done a good job to date of training obstetrical care providers to have these conversations with their patients, in concise and effective ways,” she says.

CAPS, however, won’t focus solely on physicians. It will take a broader approach to education about the tests; understanding that patients, governmental agencies, and private payers also play their own part in expanding the use of NIPT.

“It doesn’t matter who you are. Whether you are a clinician, a patient, or a medical director at an insurance company, we believe they will all benefit from greater educational awareness in this area,” Hawkins notes.

Dr. Martin has seen encouraging signs recently that some private payers understand NIPT has benefits for all women, not just those considered high risk of having babies with chromosomal abnormalities. Within the past year and a half, major insurers CIGNA, Anthem Blue Cross, and other blues plans have added coverage of the tests for all women, not just those who are considered at higher risk.

“The data is overwhelming,” Dr. Martin concludes. “The NEXT study by Mary Norton in [The New England Journal of Medicine] clearly showed the performance enhancements of NIPT for women of all ages. I think CAPS can use this information to help push the change a little more quickly.”

To see more articles from the January/February issue of Cliniclal OMICs click here.

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