Noninvasive prenatal screening using cell-free placental DNA circulating in maternal blood (NIPS) has been rapidly integrated into prenatal care since the American College of Medical Genetics and Genomics (ACMG) released its 2013 Position Statement on its use. "New data and provider and patient demand required an updated ACMG position on the use of NIPS in prenatal care," said lead author of the ACMG statement and high-risk pregnancy physician, Anthony R. Gregg, MD, MBA, FACOG, FACMG. "We provide a framework for understanding how genetic technology moves from an idea into clinical practice. ACMG continues to stress that NIPS is a screening rather than a diagnostic test and positive results should be followed by a diagnostic test such as chorionic villus sampling or amniocentesis."(Diagnostic tests eliminate the problem of false positive and false negative results associated with a screening test).
The updated statement, "Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics," will be published in the ACMG's peer-reviewed academic journal, Genetics in Medicine online Ahead of Print (AOP) Thursday, July 28, 2016.
The ACMG statement focuses on topics that obstetric care providers and patients should discuss when considering prenatal aneuploidy screening options. It includes 44 specific recommendations for providers and the laboratories that offer NIPS. One goal is to ensure patients receive accurate and up-to-date information. Another goal is to ensure obstetric care providers have clear, precise and accurate laboratory reports as well as educational tools and resources in order to counsel patients.
Key questions and recommendations include:
The position statement offers guidance to obstetric care providers and makes the following specific recommendations:
Some of the recommendations for laboratories that perform NIPS include that:
ACMG Executive Director, Michael S. Watson, PhD, FACMG, another author of the new ACMG statement and member of The Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics added, "Ultimately, we believe that a patient, with guidance from her provider, should be able to make an informed decision on the current use of prenatal screening options including NIPS and understand the ramifications of a positive, negative or "no call" result."
The ACMG statement also stresses the importance of patient counseling before and after testing, and it provides a list of patient resources and useful references for medical providers.
###
About the American College of Medical Genetics and Genomics
The American College of Medical Genetics and Genomics is the specialty society representing U.S. clinical and laboratory Medical Geneticists who are board certified by the American Board of Medical Genetics and Genomics, one of the 24 primary member specialty boards of the American Board of Medical Specialties. Fellows of ACMG are from four specialties: MD/DO Clinical Genetics and three MD or PhD laboratory specialties (Clinical Biochemical Genetics, Clinical Cytogenetics, and Clinical Molecular Genetics). ACMG's 2000 members also include genetic counselors, genetics nurses, and public health geneticists. Founded in 1991, ACMG is the only nationally recognized medical organization dedicated to improving health through the practice of medical genetics and genomics.
Three guiding pillars underpin ACMG's work: 1) Clinical and Laboratory Practice: Establish the paradigm of genomic medicine by issuing statements and evidence-based or expert clinical and laboratory practice guidelines and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education and tools for medical geneticists, other health professionals and the public and grow the genetics workforce. 3) Advocacy: Work with policymakers and payers to support the responsible application of genomics in medical practice. Genetics in Medicine , published monthly, is the official ACMG peer-reviewed journal. ACMG's website offers a variety of resources including Policy and Position Statements, Practice Guidelines, Educational Resources, and a Find Genetic Services tool. The educational and public health programs of the American College of Medical Genetics and Genomics are dependent upon charitable gifts from corporations, foundations, and individuals through the ACMG Foundation for Genetic and Genomic Medicine.
Genetics in Medicine