Questions about the Interpretation of BRCA Testing by 23andMe

Lab testing for the genes that predispose a person to develop cancer is highly complex, both to preform and interpret. For example and relating to BRCA, I have blogged about some of the pitfalls of such testing (see:BRCA Exchange Available on the Web; Understanding BRCA Variants). Here's a quote from this note discussing some of the complexities that are encountered:It's not known among some healthcare consumers that there are a host of BRCA variants other than the standard ones. Normal BRCA testing looks forthree specific genetic variants that are linked to hereditary cancers. Two of these variants — 185delAG and 5382insC — are in the BRCA1 gene. One variant — called 6174delT — is in the BRCA2 gene.A patient may test positive for a variant other than these common ones and it may not be clear under such circumstances what treatment to offer to the patient.A recent article in theNew York Times warns consumers about the fact that the23andMe BRCA testing may be misleading (see:Don ’t Count on 23andMe to Detect Most Breast Cancer Risks, Study Warns). Below is an excerpt from the article: In 2010, Dr. Pamela Munster mailed her saliva to 23andMe, a relatively new DNA testing company, and later opted in for a BRCA test. As an oncologist, she knew a mutation of this gene would put her at high risk for breast and ovarian cancer. She was relieved by the negative result.Two years later, after she learned she had breast cancer, she took a more co...

Source: Lab Soft News - April 19, 2019 Category: Laboratory Medicine Authors: Bruce Friedman Tags: Clinical Lab Industry News Clinical Lab Testing Diagnostics Direct Access Testing (DAT) Food and Drug Administration Genomic Testing Healthcare Innovations Lab Industry Trends Lab Regulation Medical Consumerism Medical Education Medi Source Type: blogs