Newborn Screening Guidelines Lead to AAFP Issue Brief, Other Resources

Concerns about federal recommendations on newborn screening have led AAFP to issue a legislative brief. The brief gives family physicians a tool for weighing in on the recommendations, and additional resources are available to help FPs address parents' questions about genetic screening tests for newborns.

In 2004, the Maternal and Child Health Bureau of the Health Resources and Services Administration called on states to adopt a uniform panel of 29 newborn screening tests performed using tandem mass spectrometry, which requires blood from only a single heel-stick. That recommendation and others -- including notation of 25 additional conditions that could be identified in the course of screening for the core panel -- appear in a report the bureau commissioned that was published in the Federal Register last year. The Newborn Screening Diagnosis and Follow-up Work Group for the report included Barbara Yawn, M.D., of Rochester, Minn., AAFP's representative.

AAFP's "Issue Brief: Newborn Screening," (PDF file: 12 pages / 115 KB. More about PDFs.) explains, "The report and recommendations, which were provided to AAFP and others for comment in mid-2005, have created some controversy. … The report shows relatively little recognition of the role of primary care clinicians, who care for newborns and their mothers and to whom families will turn to sort out positive test results, and the evidence basis for the recommendations is less rigorous" than that used by the U.S. Preventive Services Task Force. USPSTF recommendations are considered the "gold standard" for clinical preventive services, says an appendix to the issue brief.

"The (bureau) report gives comparatively little weight to the potential negative effects of screening, including the prevalence of false positives and the deleterious effects they can have, such as added cost and patient anxiety," says the issue brief. "The report pays insufficient attention to the effects on patients and families of abnormal test results for conditions that have no treatment or may represent only carrier states."

Indications of state interest in newborn screening include bills that at press time were pending in Kentucky, Michigan, Mississippi, New Hampshire, New York, Oklahoma, Pennsylvania, Washington and West Virginia.

AAFP constituent chapters should consider asking states to call for mandatory screening only for tests for which the evidence is "most rigorously supportive" and have families give informed consent to receive reports on other tests in the tandem mass spectrometry panel, the issue brief says.

"Family physicians and their office staffs should prepare to educate families concerning newborn screening and to respond to questions from families concerning positive tests," the issue brief advises. Tools to aid in this preparation include the module "Newborn Screening," which is part of AAFP's Annual Clinical Focus 2005: Genomics.

In addition, family physicians may wish to give families these HRSA pamphlets: