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
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. Continue reading Are professional societies conflicted about cfDNA?
Genome-wide sequencing is increasingly being conducted on fetal tissues, either as whole exome sequencing (WES), whole genome sequencing (WGS), or targeted analysis that uses clinical panels. These kinds of prenatal sequencing are sometimes done when more standard genetic tests have not yielded helpful results to explain structural anomalies, or if a specific genetic condition is suspected that would not be detected through other prenatal tests. While such sequencing is more likely to yield a positive result, it comes with its own set of risks and challenges – for instance, it is more likely to detect variants of unknown significance and other results that lead to excessive testing and stress on parents without significant benefit.
The International Society of Prenatal Diagnosis (ISPD), in conjunction with the Society of Maternal Fetal Medicine (SMFM) and the Perinatal Quality Foundation (PQF), just issued a joint position statement on the use of genome-wide sequencing for fetal diagnosis. While they recognize that sequencing can be useful in some instances, they generally take a cautionary approach. Based on “lessons learned from existing prenatal testing,” along with currently available literature and a panel discussion at the most recent annual ISPD meetings, their consensus opinion includes the following points. Continue reading ISPD issues new guidelines for prenatal genome-wide sequencing
We’re thrilled to announce the publication of our article summarizing insights from our Brocher Foundation workshop! In December 2015, we held a workshop at the Brocher Foundation in Geneva, Switzerland, on “Non-Invasive Prenatal Testing in the Non-Western Context.” With the participation of experts from around the world, we spent four days learning about the diverse social, economic, political, and cultural contexts in which prenatal cfDNA screening is being introduced globally, and discussed approaches to promote equitable and socially appropriate implementation. Our new article, published in the Hastings Center Report, shares 8 key insights emerging from that workshop.
Continue reading Prenatal genetics in global context
by Katie Stoll, Amanda Mackison, Megan Allyse, and Marsha Michie
The booming genetic testing industry has created many new job opportunities for genetic counselors. Within commercial laboratories, genetic counselors work in sales and marketing, variant interpretation, as “medical science liaisons” to clinicians, and providing direct patient care. Although the communication skills and genetics expertise of the genetic counselor prepare them well for these roles, they also raise concerns about conflicts of interest (COI).
Continue reading Genetic counselors, genetic interpreters, and conflicting interests
Five laboratories have banded together to raise awareness about cell free DNA screening and lobby for its coverage by insurers for greater access by expectant mothers. Continue reading Coalition for Access to Prenatal Screening: Labs Advocate for Coverage of cfDNA Screening
Here in the USA, where most of our PIRC collaborators reside, we’ve been pretty preoccupied lately with elections and such. But while we were doing other things, prenatal genomics has continued to produce new research and developments. Here are a couple of them.
Continue reading Recent developments in prenatal genetic testing