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.
CDC's Office of Public Health Genomics Recruiting Docs for Survey on EGAPP Plans
June 25, 2009
CDC's Office of Public Health Genomics today said it is recruiting "health care providers from multiple disciplines" — genetic counselors, general practitioners, oncologists, surgeons, pathologists, gastroenterologists, nurse practitioners, physicians’ assistants — "to participate in a health message survey for educational materials on the new EGAPP recommendations for Lynch Syndrome genetic testing.
The survey, to be conducted in July and August, will take about one hour to complete, OPHG says. Participants are asked to contact Sara Bedrosian at eri7@cdc.gov.
The results should be interesting if there's any truth to what most medical societies, genetic test marketers, and individual physicians claim to be the average doc's knowledge of genetics: roughly none.
