An April 21 article in the New York Times entitled "New Genetic Tests for Breast Cancer Hold Promise" discussed the following:
"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 main breast cancer risk genes, known as BRCA1 and BRCA2. Other companies and laboratories are being invited to join the effort, called BRCA Share."
This is a very thought-provoking article and attractive to a population that is interested and concerned about hereditary mutations and cancer risk. The cost is affordable to many and the company, Color, is working on a financial assistance program for those who cannot pay even the $249.00 cost of testing. As a cancer risk assessment professional who counsels, evaluates, educates and recommends testing to men and women who have personal/family histories of cancer on a daily basis, these are my concerns and questions I would ask:
- What is the platform or technology they are using to do the testing at this price?
- How deep and wide do they sequence the DNA, do they test for deletions and duplications of the DNA?
- Does their testing compare with the major genetic laboratories that have been establish for years and have a known track record?
- Is this test even necessary?
- Can I trust an employee of the lab to order the test that is right for me? Isn’t this a conflict of interest?
- Will there be counseling to help the patient understand the need and advisability of testing and will it be done before or after the testing or both?
- Who will help the patient interpret the test results?
- Who will make the recommendations for follow-up?
- Who will follow the person long term to carry out the recommendations made?
- Will the recommendations be sound, considering the lack of information we currently possess about some of the more rare mutations?
- Will unnecessary procedures/surgeries be done that endanger lives?
Most of these questions were asked in the article but bear serious consideration before embarking on this hereditary journey. There are medical and genetic professionals here in our community who can walk with you in making decisions about genetic testing and guide you to established and reputable genetic labs in this country who offer genetic testing though your insurance or with financial assistance if your insurance does not cover the testing.