Prenatal cfDNA screening, often called NIPT, has given rise to many differences of opinion among professional societies. Recommendations about using cfDNA for prenatal screening have evolved slowly as studies have validated these tests – and, of course, as the tests themselves have changed and expanded over time. ACMG, representing medical genetics and laboratories, has tended to make the most expansive recommendations in favor of cfDNA screening, while ACOG, representing the bulk of obstetricians, has tended to be the most conservative group. Others, like ISPD, have usually fallen between the two extremes.
Commercial cfDNA labs, for their part, have grumbled about what they see as an overly slow pace of accepting this new technology (although, by historical medical standards, it’s actually been quite fast). One of their long-standing complaints has been revived in a just-published commentary in Prenatal Diagnosis. Adam Wolfberg, formerly employed by Ariosa (the makers of the Harmony™ cfDNA screen), argues in this new commentary that professional bodies have an inherent conflict of interest that has led them to resist more enthusiastic recommendation for prenatal cfDNA screening. Maternal-fetal medicine (MFM) specialists, he argues, see their livelihood endangered by this new technology, which threatens to undermine the fetal ultrasounds that are their bread and butter.
Wolfberg, now the chief medical officer of Ovia Health (a women’s health media company), says he felt it was inappropriate to publicly voice this observation while he was employed by a cfDNA lab, and he stopped short of arguing that what he believes is a serious conflict of interest has necessarily influenced professional society recommendations. But he clearly believes that influence is present; for example, he argues that once validation studies proved that cfDNA worked as well in average-risk pregnant women as in elevated-risk populations, societies’ critiques “shifted focus” to note the inability of cfDNA to detect all the same conditions as older tests.
Speaking with a GenomeWeb reporter (paywalled article), Dr. Ronald Wapner of Columbia University disputes the assertion that more recent arguments are just a way of stonewalling the wholesale replacement of older screens that are more profitable for clinicians. While MFMs do make more money from a nuchal translucency ultrasound than ordering a cfDNA screen, Wapner argues that “when you do nuchal translucency, you pick up other things. It’s not comparing apples to apples.” Wapner, who also serves on the board of the Perinatal Quality Foundation (which developed the GEM education modules on prenatal testing) emphasizes patient education and counseling, saying clinicians should “find out what your patient wants, fairly compare the two modalities, and make sure people know exactly what they are being tested for.”