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The Results of Your Genetic Test Are Reassuring. But That Can Change. (nytimes.com)
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 But there is no reliable system for telling patients or doctors that the results of their genetic tests are no longer valid. From a report: The results of a genetic test may seem final -- after all, a gene mutation is present or it is not. That mutation increases the risk of a disease, or it does not. In fact, those findings are not as straightforward as they might seem, and the consequences may have grave implications for patients. While a person's genome doesn't change, the research linking particular bits of DNA to disease is very much in flux. Geneticists and testing labs constantly receive new information that leads them to reassess genetic mutations. As a result, a mutation seen as benign today may be found dangerous tomorrow. And vice versa. But there is no good way to get the new information to doctors and patients.
The result: The gene test you had a few years ago might yield a startlingly different result now. The problem affects a minority of patients, mostly people with unusual mutations. The more common disease-causing mutations -- like those that predispose you to breast or colon cancer -- are so well studied that their meaning is not in doubt. In a recent study, researchers at Myriad Genetics, a diagnostic company, reviewed data on 1.45 million patients who had genetic tests from 2006 to 2016 to see if the results originally reported still held true. The lab issued new reports for nearly 60,000 of them, meaning the old results had been superseded by new data. But many patients who carry mutations that have been reclassified remain in the dark.
The result: The gene test you had a few years ago might yield a startlingly different result now. The problem affects a minority of patients, mostly people with unusual mutations. The more common disease-causing mutations -- like those that predispose you to breast or colon cancer -- are so well studied that their meaning is not in doubt. In a recent study, researchers at Myriad Genetics, a diagnostic company, reviewed data on 1.45 million patients who had genetic tests from 2006 to 2016 to see if the results originally reported still held true. The lab issued new reports for nearly 60,000 of them, meaning the old results had been superseded by new data. But many patients who carry mutations that have been reclassified remain in the dark.
For $5 you can take the raw data dump provided by 23andme and have it processed by Prometheus and they give you all sorts of details not covered by 23andme. For that fee you can have your data reprocessed for free in the future to apply it to the latest research available.
The common genetic tests use a microarray gene chip, which only covers well-known mutations. They're not actually reading your DNA sequence. Further, in some cases, they're inferring the presence of mutations by looking at nearby linked sequences. If it's really important, you should have sequencing done on the gene (probably what buddyglass had, but it's not cheap). Even in that case, if a novel mutation is detected, some mutations have no effect. Sometimes, not always, you can make a good guess on effect. To know for sure, you need an activity test on the DNA or protein product. Myriad sometimes does this for novel BRCA mutants, but again, it's not cheap.