The American College of Obstetricians & Gynecologists (ACOG) and the Society for Maternal Fetal Medicine (SMFM) have issued new guidelines replacing previous guidance on prenatal genetic screening. The guidelines are restricted to subscribers and members. This post summarizes Practice Bulletin No. 226, offers brief commentary, and invites your thoughts on the new guidelines. Continue reading ACOG/SMFM Issue New Guidelines for Prenatal Genetic Screening
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
Megan Allyse is representing PIRC at the 2017 annual meeting of the American Congress of Obstetrics and Gynecology (ACOG) in San Diego, with a poster presenting preliminary findings from the ERRORS (Errors in Reading and Reporting On Results of Screening) study. She presented the ERRORS poster, titled “Decisional Regret in Women Receiving High-risk or Inconclusive Results from Non-invasive Prenatal Genetic Screening,” in ePoster Session B on Saturday (Poster 24B).
She is also presenting a poster on ethical considerations in uterine transplantation surgery, in ePoster Session P on Tuesday (Poster 30P). Congratulations Megan!
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
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.
For many this new discovery is not all that surprising. For several years now, researchers have been pursuing a test, based on cell-free DNA, that would provide a reliable “liquid biopsy.” Indeed, such tests are already being used clinically in limited circumstances, though–as with NIPGS–the rapid translation of this technology has left important questions about reliability and actionability as yet unanswered. Even more promising, sequencing cell-free DNA may circumvent some of the problems recently proposed with sequencing tumor DNA without matched controls from normal tissue–because both kinds of DNA will be present in serum, and can be distinguished by their relative frequency, much as NIPGS does with fetal and maternal cell-free DNA. Continue reading How do we deal with NIPGS and ‘The Big C’?