Similarly, Steven Murphy, founder of the personalized medicine private practice Helix Health, has written in his blog that the Decode test needs further validation and is not ready to be marketed broadly.
Decode Genetics' BreastCancer
Decode Genetics announced the launch of its BreastCancer test last week in the US and the UK.
Cambridge, UK-based Lab21 will be marketing Decode BreastCancer, an assay used to predict a woman’s lifetime risk of developing breast cancer, in the UK and in Ireland. Meanwhile, Decode is also offering the test in the US, for $1,625 dollars as a homebrew test. Analysis of samples will be conducted at Decode’s CLIA-registered laboratory in Iceland.
If results from the test indicate patients are at an increased lifetime risk of getting breast cancer, doctors can then refer them for more extensive testing.
Decode said that its test can help direct treatment for 95 percent of breast cancers, and can also be used to better understand the risk profile of patients who have tested positive for BRCA1 or BRCA2, markers for early onset of inherited forms of breast cancer
Decode BreastCancer, a DNA-based reference laboratory test that can be administered with a blood sample or a cheek swab, can identify the roughly 5 percent of women who are at a greater than 20 percent lifetime risk of the common forms of breast cancer, which is about double the average risk in the general population, and the 1 percent of women whose lifetime risk is roughly 36 percent, about three times average risk, the company claims.
The test measures seven SNPs that Decode says “contribute to the incidence of an estimated 60 percent of all breast cancers.” The test integrates data from discovery and replication studies published in major peer-reviewed journals and involving nearly 100,000 breast cancer patients and healthy volunteers from many populations, principally of European descent, Decode said.
Despite the company’s assurances, there is debate among researchers and industry observers as to how well the associations of these seven SNPs have been replicated and independently validated.
Arthur Caplan, director of the Center for Bioethics at the University of Pennsylvania, recently wrote in MSNBC: “Sadly, the tests Decode and other companies are offering are more likely to empty family pocketbooks and leave women with a false sense of security than they are to prevent breast cancer.”