It’s hard to imagine a more mind-numbingly boring topic than billing codes for medical tests … and yet those codes mean the difference between profit and loss to commercial labs, and often the difference between whether patients can get the tests that their providers recommend. Continue reading Changing the way labs bill for genetic tests?
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.
Continue reading Nuffield Council and BBC report spur change
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
PIRC members Marsha Michie and Stephanie Meredith are speaking this morning at the Cambridge HealthTech Institute’s 6th annual Advances in Prenatal Molecular Diagnostics meeting in Cambridge, Massachusetts.
Both Marsha and Stephanie are on the opening panel (with Brian Skotko and Louis Muglia), on NIPT In The Clinic. Contact us if you’d like more information about our presentations!
One of the major selling points for prenatal cell-free DNA (cfDNA) screening has been that it will reduce the number of miscarriages resulting from invasive diagnostic tests–amniocentesis and CVS. However, a randomized controlled trial in France, just published (paywall) in the Journal of the American Medical Association, has found no evidence of this promised benefit.
The SAFE21 Study Group randomized “high risk” pregnant women in 57 French clinics to either go straight to invasive diagnosis or, alternately, to have cfDNA screening first. Those in the cfDNA arm of the trial received invasive testing only if the cfDNA screen returned positive results. There were just over 1000 women assigned to each arm of the trial. In the cfDNA arm, nearly all the women had cfDNA screening, and 84 women (8.3%) had follow-up invasive diagnosis. Yet the miscarriage rate for the cfDNA arm was identical to that for the invasive testing arm, in which 751 women (76.5%) had invasive diagnosis. In each arm 8 women (0.8%) experienced miscarriage. Furthermore, in the invasive testing arm, researchers discovered 11 chromosomal anomalies (1.5%) that would not have been found using cfDNA screening. Continue reading No safety differences between cfDNA screening and diagnostic testing?
Baby Elianna Constantino has made history. The world’s first in utero stem cell transplant trial has reported the birth of a baby with alpha thalassemia after giving the fetus a blood transfusion enriched with the mother’s blood stem cells. Elianna was born to Nichelle Obar and Chris Constantino in February. The couple, who are from Hawaii, are both carriers of alpha thalassemia, and their fetus was critically ill during the second trimester. But researchers at UC San Francisco and UCSF Benioff Children’s Hospital Oakland are conducting an early-stage trial that aims to help babies with alpha thalassemia using their mothers’ stem cells. Continue reading First baby born in stem cell transplant study
We are a bit late in reporting this ruling, but in March Natera settled with the US government for over $11 million to resolve claims of fraudulent billing for its Panorama prenatal cfDNA screening test. The government held that from 2013 through 2016, Natera knowingly submitted improper claims for payment from TRICARE (the insurance program for the US military), the Federal Employees Health Benefits Program, and Medicaid. By using improper billing codes, Natera misrepresented the services for which they were billing, causing these agencies to pay for testing that they would not otherwise cover – such as cfDNA screening for low-risk pregnancies and for microdeletion syndromes. Continue reading Natera pays $11M for fraudulent billing