Breast cancer gene testing set to become cheaper and easier

http://www.theguardian.com/us-news/2015/apr/21/breast-cancer-genetic-testing-silicon-valley

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Testing for genetic breast cancer risk factors could change dramatically as a Silicon Valley startup introduces inexpensive mail-in gene tests.

The announcement comes as two major lab corporations announced the creation of a database to help researchers refine knowledge about the level of risk presented by certain genes.

The two developments center on the BRCA1 and BRCA2 genes. The two genes normally produce tumor-suppressant proteins, but can signal an increased risk of breast and ovarian cancer if mutated.

These mutations account for between 5% and 10% of all breast cancers and 15% of all ovarian cancers, according to the National Cancer Institute. Cancers occurring in carriers of the two mutations also tend to occur younger than non-hereditary cancers.

Testing for such gene mutations currently, can cost between $400 and $4,000 in the US, depending on a patient’s insurance coverage. Since the introduction of the Affordable Care Act – aka Obamacare – all health insurance companies are required to cover such tests for women with “high-risk” family histories of cancer, according to the NCI.

Color Genomics, a Silicon Valley company backed by the executives of Twitter and Eventbrite among others, is looking to make testing more accessible with a $249 mail-in saliva analysis.

Color Genomic’s 19-gene panel test, and its accompanying advertising, focuses heavily on the BRCA1 and BRCA2 gene mutations. The two risk factors have received increased public attention since actor Angelina Jolie cited the two gene mutations as important to her decision to undergo a double mastectomy; an article by Jolie about her decision is quoted on Color’s website).

“While the apparent randomness of cancer brings a deep feeling of helplessness, we believe that it is possible to empower individuals and families with knowledge that can enable them to understand and manage their genetic risk of cancer,” said an initial blog post on thesite.

The mail-in test is analyzed by a doctor, and patients can choose to schedule a genetic counseling appointment, according to the company’s website.

Meanwhile, the lab companies Quest Diagnostics and LabCorp announced they would collect information about the genetic tests in a database to assist in research. Called BRCA Share, the companies hope the database will spur research and cut down on the number of tests which have inconclusive results.

As many as 10% of patients who undergo such genetic tests may receive ambiguous results describing a “genetic variant of uncertain significance,” according to the NCI.

The database will be available to US companies on a sliding payment scale depending on lab size, and will be free for scientists purely conducting research.

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

Currently, experts at the United States Preventative Services Task Force recommend that only women with genetic histories predisposing cancer test for the BRCA1 and BRCA2 genes, and that children don’t undergo such testing at all because there is no way to mitigate risk in children.