The Nuffield Council on Bioethics, a UK-based group that issues carefully considered (though not legally binding) reports on bioethics issues, made a number of important recommendations regarding prenatal testing in its 2017 report, Non-Invasive Prenatal Testing (NIPT). In a blog post nearly two years later, however, the Council expressed dismay that so little action had been taken to alleviate their concerns. Remarkably, that blog post and a troubling BBC report issued the same day have apparently led to some important changes in just a few months.
None of the commercial laboratories that offer prenatal cell-free DNA screening (also known as non-invasive prenatal screening, or NIPS) in the United States follow all of the guidance from ACMG (the American College of Medical Genetics & Genomics). A new study published in Genetics in Medicine by a multidisciplinary group of experts assessed materials from all the US labs currently offering NIPS, and found a great deal of variability in their adherence to the 2016 ACMG guidelines.
In a press release, Brian Skotko, MD, of MassGeneral Hospital for Children, the paper’s lead author, noted, “It’s been more than two years since the ACMG published its recommendations about NIPS, and we could not find a single commercial lab in the U.S. that adhered to all of the recommendations.”
While multiple professional societies have issued recommendations for offering and returning results from NIPS, the 2016 ACMG recommendations were unique in providing guidance not only for health care providers, but also for laboratories marketing and conducting NIPS.
The authors of this just-published study included several of the experts who contributed to the 2016 ACMG recommendations, and also included several PIRC members with expertise in bioethics and patient/provider education. The table detailing the results is publicly available here on the PIRC website, and the group has pledged to update this table as new information is made available.
The original article (available to Genetics in Medicine subscribers) is available online:
Skotko BG, Allyse M, Bajaj K, Best BG, Klugman S, Leach M, Meredith S, Michie M, Stoll K, Gregg AR. Adherence of Cell-free DNA Noninvasive Prenatal Screens to ACMG Recommendations. Genetics in Medicine online advance publication. https://doi.org/10.1038/s41436-019-0485-2
Thursday poster session:
The National Center for Prenatal and Postnatal Resources: Evaluating the progressive annual utilization of a recommended patient education resource two years after the release of the 2013 ACMG statement on noninvasive prenatal screening for fetal aneuploidy
Friday poster session:
Expanded prenatal cfDNA screening: Genetic counselors’ opinions regarding provider education needs (click here to see poster)
Marsha Michie, Megan A. Allyse, Stephanie A. Kraft, Subhashini Chandrasekharan, and Jessica Mozersky