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:
We are happy to be well-represented at this year’s national meeting of the American College of Medical Genetics and Genomics (ACMG). Swing by our posters and say hello!
Thursday poster session: Poster #437
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
A recent report shares the odds that a noninvasive prenatal genetic screening (NIPGS) result is suggestive of a true positive in a clinical setting. It also makes several key points about the administration of NIPGS and patient choices.
Stories have been circulating for a while now that anomalous non-invasive prenatal genetic screening (NIPGS) results may sometimes indicate maternal cancer. Recently, however, these anecdotes have given way to more rigorous data, from a group of researchers at University of Leuven in Belgium, and from US companies Sequenom and Illumina.