Helicos Biosciences has published a new paper in Genome Research reporting a new single-step capture and sequencing method to detect BRCA1 mutations. To simplify DNA sample preparation and lower the costs of the procedure, the Helicos researchers developed a system "in which any gene can be captured and sequenced directly from human genomic DNA without amplification, using no proteins or enzymes prior to sequencing." Unlike many PCR-based methods that require additional steps to detect mutations, single-molecule sequencing can detect any size insertion or deletion directly, the team adds. This could make genetic tests cheaper and more accessible to a wider range of patients.
At his blog, Cancer and Your Genes, Matt Mealiffe wonders whether such a test would step on some intellectual property toes. "It may be important that their single molecule sequencing method does not involve any DNA amplification," he says, but it's still unclear if such a test would infringe on the BRCA1 and BRCA2 patents held by Myriad Genetics.