Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
It’s Official: CMS Will Not Reimburse Medicare Recipients for Genetic Warfarin Dxs
August 18, 2009
It’s official: CMS will not reimburse Medicare recipients for genetic warfarin-dosing tests.
According to G-2 Reports, CMS recently concluded in a final decision “there was not enough evidence” to show that pharmacogenomic testing of the CYP2C9 and VKORC1 alleles “to predict responsiveness to the anticoagulant drug improves health outcomes in Medicare beneficiaries.”
The final decision went into effect Aug. 3, but “the agency left the door open to reconsider based on further evidence development,” G-2 says.
The agency said genetic testing “is not reasonable and necessary” — two criteria for coverage — reiterating a proposed ruling it made in May, according to Sample sister publication Pharmacogenomics Reporter.
