Breast cancer gene testing could be more accessible with new advancements

A Silicon Valley company called Color Genomics has developed inexpensive mail-in gene tests that could have significant implications for the way in which breast cancer risk factors are detected. The announcement marks the collaboration of two major lab corporations who have created a database to help researchers determine the level of risk presented by genetic mutations. BRCA1 and BRCA2 genes, which have an established link to breast cancer, will be at the centre of these developments.

These mutations account for 5 – 10% of all breast cancer cases according to the US National Cancer Institute (NCI), with carriers of these genetic variants typically presenting with breast cancer at a younger age. Currently, tests for these genes can cost between $400 – $4000 in the US. The at-home DNA saliva test offered by the Silicon Valley start-up company detects the same genetic anomalies at a lower price of $249 or £167.

The mail-in test would be analysed by a doctor and patients would have the option of scheduling a genetic counselling appointment. In conjunction with this work, the partner lab companies (Quest Diagnostics and LabCorp) would also collect information from the genetic tests and pool it into a database for breast cancer research. The aim is to reduce the number of tests that provide inconclusive results; at present as many as 10% of patients who undergo these genetic tests receive ambiguous results termed “genetic variant of uncertain significance” according to the NCI.

Steve Rusckowski, CEO of Quest Diagnostics, commented on the possible benefits of these developments saying, “This initiative will harness the power of diagnostic insights to illuminate the role of genetics in inherited cancer. BRCA Share is a new model for public and private collaboration in an age of scientific openness and genomics discovery.”