ACOG: All women should be offered additional pre-pregnancy screening | RNA sequencing may reveal mutations not detected by DNA sequencing | Physician: Study suggests bigger role for CRC genetic testing
All women, regardless of their ethnic background, should be offered additional carrier screening before pregnancy, according to a new opinion from the American College of Obstetricians and Gynecologists' Committee on Genetics.
"[T]he pretest probability of being a carrier for a specific disorder may not be consistent with previous assumptions about the prevalence of that disorder in the various ethnic and racial groups with which a patient identifies," the opinion states.
Sequencing the RNA of skeletal muscle biopsies from patients with undiagnosed disorders revealed disease-causing genetic mutations in 17 of 50 patients, researchers reported in Science Translational Medicine. The researchers identified disease-causing mutations in the dystrophin gene in patients with Duchenne muscular dystrophy as well as a severe collagen VI-related myopathy intron mutation that had been missed in DNA sequencing.
A study that included more than 1,000 colorectal cancer patients at the Dana-Farber Cancer Institute showed almost 10% had a mutation in a cancer susceptibility gene, suggesting genetic testing may have an expanded role in CRC, said Dr. Matthew Yurgelun, who led the research. Yurgelun said historically it was believed that inherited factors account for 3% to 4% of CRC patients.
A team of scientists at Stanford University developed a wristband-type wearable sensor that can diagnose and monitor diseases such as diabetes and cystic fibrosis by measuring the molecular constituents of sweat, according to a study published in the journal PNAS. The device can run with a smartphone, which can send the measurements to a center to be reviewed.
Atomwise launched its Artificial Intelligence Molecular Screen program, which employs algorithms that can screen millions of molecules per day. The program, open to US and Canadian researchers, hopes to find new drugs for such diseases as multiple sclerosis, leukemia and Ebola.
The CMS will accept formal comments on proposed changes to the Medicare and Medicaid EHR Incentive Programs until June 13. These changes include revising the EHR reporting period from the full calendar year to any continuous 90-day period, implementing a policy that would not allow payment adjustments for eligible providers who conduct most of their professional services in ambulatory surgery centers, and adding a Medicare payment adjustment for eligible hospitals and professionals who cannot comply with meaningful-use requirements because of decertified technology.
A partnership has been reached by Australian diagnostics company SpeeDx and Thermo Fisher Scientific to seek approval from the FDA for SpeeDx's ResistancePlus MG assay for antibiotic-resistant Mycoplasma genitalium. The deal, for which terms were not disclosed, calls for the test to be submitted by SpeeDx to the agency after successful validation of the product for use on Thermo Fisher's Applied Biosystems 7500 Fast Dx Real-Time-PCR system.
Abbott Laboratories has ended months of legal fighting with Alere after agreeing to acquire Alere for about $5.3 billion, $500 million lower than the original price announced last year. The new $51-per-share agreement, which is expected to be completed by the end of the third quarter, will help expand Abbott's point-of-care testing assets.
GenDx has reached an agreement with South Korean firm Infopia to distribute Infopia's GeneFinder human leukocyte antigen real-time PCR assays in Europe for undisclosed terms. GenDx will sell the kits through its local distributor network.
Improve your understanding of troponin testing and reporting, as well as expand collaborations with health care teams. Join AACC and Fred Apple, PhD, DABCC, to discuss the role of high-sensitivity cardiac troponin (cTn) assays to rule in/out myocardial injury and infarction in patients presenting with acute and chronic disease.
Join AACC and LabLeaders on May 3 for an engaging webinar that will focus on strategies laboratorians can use to clearly communicate the value of the laboratory testing services to payers and hospital administrators.