OBBeC.com

Mountain View, CA (OBBeC) - Perlegen has announced the launched of a new, proprietary approach to discovering rare genetic variations.

According to the announcement, the company is now employing this approach in a study of women who have received hormone replacement therapy, to survey a large proportion of the expressed genome for the presence of rare genetic variants that alter women's risk of developing breast cancer.

Perlegen has already identified common genetic variants with proven, quantifiable associations to disease risk and drug response profiles, including common variants related to the risk of developing breast cancer. But while common variants can provide valuable information, they do not explain all of the genetic factors associated with a particular clinical outcome.

As outlined by the company, this new approach will enable them to efficiently identify more of the genetic basis behind the differences in patients' disease risks and response to drugs.

Common variants can be found by "genotyping," or studying the most prevalent genetic variants, called single nucleotide polymorphisms (or "SNPs"). Rarer variants, however, must be found through "sequencing," a more involved process that looks at the entire genetic code in a region of interest to discover not only any single-base changes from its known sequence, but also any insertions or deletions of code.

Perlegen's sequencing approach targets the sections of the genome that are expressed as proteins, since even with fast, second-generation sequencing, addressing the entire genome in hundreds of cases and controls remains prohibitively expensive. The new approach uses an innovative sample preparation method, automated processing on a next-generation sequencing discovery platform and advanced data analysis methods, the company outlines.

"Perlegen's pioneering use of sequencing to discover rarer genetic variants associated with increased risk of disease or drug side effects will make clinical testing an even more powerful tool," said Dr. Bryan Walser,  CEO of Perlegen. "This new information will build upon our earlier work in common variants for breast cancer to allow physicians and patients to make better-informed choices about treatment options based on information associated with the individual's particular genetics, enabling medicine that's truly tailored to each individual. For a woman who has some identified risk factors for breast cancer, such as immediate family history, and is considering hormone replacement therapy to ameliorate the symptoms of menopause, this additional information could be extremely valuable."