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.
SACGHS Misses Opportunity for Sound Gene-Patenting Advice
As expected, the HHS Secretary's Advisory Committee on Genetics, Health, and Society today voted to urge HHS Secretary Kathleen Sebelius to prevent gene patent holders from protecting their innovations by making it impossible to sue certain parties for patent infringement.
The SACGHS' recommendations, released one day after gene patents began their defense in another arena, is noteworthy not only for the threat to patient care they would engender, but for the cavalier way their authors support their decision.
As reported today in Sample sister publication GenomeWeb Daily News, the panel formally recommended "creating a specific statutory exemption from infringement liability for genetic tests that use genes patented by another party, and another exemption for scientists who wish to use patent-protected genes for research."
The group's decision, which comes four months after it released a similarly worded draft, also seeks to create "an advisory body to measure the health impact of gene patents and licensing," according to GenomeWeb.
Such is the wisdom of the committee that it recommends killing the practice of gene patenting before allowing its advice to be tested, even as it admits that it ought to be. Imagine other components of our legal system that are similarly stripped of the presumption of innocence.
SACGHS' final report, which is expected to be sent to Sebelius "soon," would also inevitably put many patients at risk. According to the GenomeWeb report, the recommendation is "narrowly tailored and only applied to diagnostic use of gene patents in the context of patient care."
Ironically this is precisely the corner of the debate that threatens patients most: Stripping the prospect of reward from the guarantee of risk will cause investors to look elsewhere, thus depriving vendors the capital to develop tests and clinical labs the assays to grow menus and guide therapy.
Hope lies with Sebelius having more sense than her advisors.