MASSDEVICE ON CALL — DNA tests inadvertently exposing incest. Researchers are beginning to identify incest in children referred for a relatively common form of genetic testing. The analysis, called SNP-array (single-nucleotide polymorphisms), is revealing “large regions of absence of heterozygosity on multiple chromosomes in children referred for intellectual or developmental disabilities or multiple congenital anomalies,” the researchers from the Baylor College of Medicine wrote in The Lancet. In some cases, the researchers said, “these regions accounted for about a quarter of the genome — a finding most consistent with the child having been conceived by first-degree relatives.”
NHGRI charts course for the next phase of genomics research. A new strategic plan from National Institutes of Health’s National Human Genome Research Institute envisions scientists being able to identify genetic bases of most single-gene disorders and gaining new insights into multi-gene disorders in the next decade. This should lead to more accurate diagnoses, new drug targets and the development of practical treatments for many who today lack therapeutic options, according to the NHGRI plan. Molecular pathways that are implicated in single-gene disorders may hold important clues for the diagnosis and treatment of common disease, according to the strategic plan, Charting a Course for Genomic Medicine from Base Pairs to Bedside, in the Feb. 10 issue of Nature.
More than 25 percent of ovarian cancer patients don’t get recommended biopsies. Researchers at the University of California Davis Cancer Center and California Cancer Registry looked at medical records and cancer registry data of 721 early-stage ovarian cancer patients in California and New York and found that only less than three quarters had lymph nodes from the pelvis and abdomen tested for signs of cancer spread.
Study finds women used 30 percent less analgesia during labor when self-administered. In a study to be presented at the Society for Maternal-Fetal Medicine’s (SMFM) annual meeting, researchers presented findings that show that when women administer their own patient-controlled epidural analgesia (PCEA) instead of getting a continuous epidural infusion (CEI) they used less analgesic, but reported similar levels of satisfaction. Women often receive a continuous epidural infusion of analgesic during labor. This can lead to prolonged labor and an increase in assisted vaginal delivery.
CMS chief Berwick taken to task on healthcare reform’s affect on Medicare. Centers for Medicare and Medicaid chief Dr. Donald Berwick received tough questions from Republican members and mostly plaudits from Democrats as he testified before the House Ways and Means Committee meeting on the impact last year’s landmark Patient Protection & Affordable Care Act will have on Medicare, reports MassDevice.
Meanwhile, Mississippi House has approved a measure to enact a health insurance exchange. The passage of the bill will eventually allow employers to buy group health insurance policies anywhere in the country a critical part of the federal Patient Protection and Affordable Care Act, reports The Associated Press.