Coalition Promotes cfDNA-based Noninvasive Prenatal Testing

Five major players in genetic testing have joined forces to promote cellfree DNA (cfDNA)-based noninvasive prenatal testing (NIPT). A newly formed organization, Coalition for Access to Prenatal Screening (CAPS) will promote prenatal screening using cfDNA-based NIPT. The five founding companies are: Illumina, Inc.; Counsyl, Inc.; Progenity, Inc.; Natera, Inc.; and Integrated Genetics, a specialty laboratory of Laboratory Corporation of America Holdings.

"NIPT represents a major advance in the screening for fetal chromosomal aneuploidies through the analysis of millions of cfDNA fragments in the blood of a pregnant woman," according to a statement announcing the coalition's formation. CAPS' website indicates the coalition "seeks to improve access to state-of-the-art prenatal screening using cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) that is easily accessible to all pregnant women who choose to pursue aneuploidy screening, regardless of their risk factors, income, age or geographic location."

cfDNA-based NIPT provides a less invasive method for screening pregnant women for Trisomy 21/Down syndrome and other chromosomal aneuploidies. Diagnostic testing such as chorionic villus sampling or amniocentesis must still be used to confirm positive screening tests but cfDNA-based NIPT identifies "a higher proportion of pregnancies affected by chromosomal aneuploidies" than serum-based screening, according to the coalition. A 2011 recommendation of the American College of Obstetricians and Gynecologists (ACOG) stated that cfDNA testing should be used for high-risk women. A more recent committee opinion from ACOG and the Society for Maternal-Fetal Medicine, however, suggested NIPT using cfDNA offered "tremendous potential" to screen for fetal aneuploidy and any patient regardless of risk should be able to choose the screening—but it still did not recommend universal use of the NIPT with cfDNA as first line screening for pregnant women. See "Obstetric Groups Still Don't Endorse Universal Use of NIPT, But Expand Access," Diagnostic Testing & Emerging Technologies, Feb. 2, 2016).

The coalition's announcement explains that cfDNA-based NIPT has high sensitivity and specificity with low failure rate, and leads to fewer invasive testing procedures for women. The testing can also be performed as early as nine to 10 weeks into a pregnancy.

The coalition will:

• "promote public awareness about the value of cfDNA-based NIPT";

• "advocate for the highest standards of quality, service and education";

• support relevant legislative action; and

• seek reimbursement policies supportive of such testing.

A clinical advisory board—to be named in the first half of 2017—will provide the coalition with "an independent medical perspective."

"As leading providers of cfDNA-based NIPT, CAPS members are working together towards the common goal of ensuring that this innovative and highly accurate screening method is easily accessible to all pregnant women who choose to pursue aneuploidy screening, regardless of their risk factors, income, age or geographic location," said Arnold W. Cohen, M.D., Chairman of the CAPS Clinical Advisory Board, in a statement. Cohen is also Chairman Emeritus of the Department of Obstetrics and Gynecology at the Einstein Healthcare Network. "We recognize the importance of providing reliable and useful information about cfDNA-based NIPT to patients, healthcare providers, and public and private insurers."

Takeaway: Growing recognition for the value of noninvasive diagnostics leads a coalition to form promoting standards and reimbursement for cfDNA-based NIPT.