New genetic testing for breast cancer holds promise

A Silicon Valley start-up with some big-name backers is threatening to upend genetic screening for breast and ovarian cancer by offering a test on a sample of saliva that is so inexpensive that most women could get it.

At the same time, the nation’s two largest clinical laboratories, Quest Diagnostics and LabCorp, normally bitter rivals, are joining with French researchers to pool their data to better interpret mutations in the two mainbreast cancer risk genes, known as BRCA1 and BRCA2. Other companies and laboratories are being invited to join the effort, called BRCA Share, reports the New York Times.

The announcements being made on Tuesday, although coincidental in their timing, speak to the surge in competition in genetic risk screening for cancer since 2013, when the Supreme Court invalidated the gene patents that gave Myriad Genetics a monopoly on BRCA testing.

The field has also been propelled by the actress and filmmaker Angelina Jolie, who has a BRCA1 mutation and has written about her own decision to have her breasts, ovaries and fallopian tubes removed to sharply reduce her risk of developing cancer.

But the issue of who should be tested remains controversial. The effort of the start-up, Color Genomics, to “democratize access to genetic testing,” in the words of the chief executive, Elad Gil, is generating concern among some experts.

The company plans to charge $249 for an analysis of BRCA1 and BRCA2, plus 17 other cancer-risk genes. That is one tenth the price of many tests now on the market.

Testing of the BRCA genes has generally been limited by medical guidelines to women who already have cancer or those with a family history of breast or ovarian cancers. Insurers generally have not paid for BRCA tests for other women, and some insurers are not paying at all for a newer type of screening known as a panel test that analyzes from 10 to 40 genes at once.

Dr Gil of Color said his company’s test would be inexpensive enough for women to pay out of pocket, so that neither the woman nor Color will have to deal with insurance companies. He said the company was starting a program to provide free testing to women who cannot afford its test.