A genetics testing company you may not have heard of just made a big debut. The startup, called Helix, launched a new DNA test on Tuesday that offers some of the same health insights as those of competing tests like 23andMe, only in a format that the company claims is more comprehensive, more convenient, and more responsible.
As millions of Americans sat down to Thanksgiving dinner, the biomedical researcher James Hazel sent out a stark warning about the genetic-testing kits that he surmised would be a hot topic of conversation.
Most of them are neither safe nor private.
About 25% of genetic variants of uncertain significance detected in testing for hereditary cancer risk were later reclassified as benign or pathogenic, according to a retrospective study that assessed 10 years of data from a single institution.
Cancer-associated gene-variant testing reports classify polymorphisms as “benign”, “likely benign”, “likely pathogenic”, “pathogenic”, or as variants of uncertain significance (VUS). As more patients are tested, test results accumulate and scientific understanding of the role of gene variants in cancer improves, gene variants may need to be reclassified — upgraded from likely benign, benign, or VUS to pathogenic or likely pathogenic; or downgraded from pathogenic, likely pathogenic, or VUS to benign or likely benign.
Laboratories frequently “reclassify” genetic mutations. But there is no reliable system for telling patients or doctors that the results of their genetic tests are no longer valid.
A study that reviewed genetic testing results from 1.45 million individuals found that nearly 25 percent of ‘variants of uncertain significance’ were subsequently reclassified — sometimes as less likely to be associated with cancer, sometimes as more likely.
On the morning of April 7, I was in Dallas giving a talk about health advice — mostly telling the group that people already know what to do, they know the eat-less-exercise-more-don’t-smoke mantras, and they believe them, even if they don’t follow them.
Third-party analysis of raw DNA is not as rigorous as that done in a certified laboratory. But many consumers don’t understand that their results are not conclusive.
Advances in breast cancer research — including some illuminating studies published this week — offer physicians and patients a growing set of tools for both diagnosis and treatment, several experts told Axios.
The big picture: As doctors further understand the complicated subtypes of breast cancers, many have been able to rely less on the more traditional, aggressive treatments (such as radical mastectomies), while trying new strategies of testing and targeting specific tumors or cancer subtypes.
Can a blood test for cancer be a dangerous proposition? Depends on the test.
For one ovarian cancer patient, let’s call her Emily, treatment based on blood test results led to her premature death.