An online initiative offering low-cost genetic testing to relatives of people with genetic mutations that increase their risk of cancer encourages the “cascade” testing that can help to identify healthy people at risk of the disease, according to a new study by researchers at the Stanford University School of Medicine and Color Genomics, a genetic testing company.
The study of more than 700 people bearing one of 30 cancer-associated mutations found that nearly half of a patient’s first-degree relatives (think mother, father, siblings and children) chose to undergo testing when contacted by a genetic testing laboratory and offered a chance to have their own genes sequenced for about $50 — about one-tenth the standard cost. Furthermore, about 12 percent of those found to have the same mutation as the original patient then went on to invite additional relatives to be tested.
Although not everyone with a cancer-associated mutation will go on to develop the disease, the knowledge that one is a carrier can help people and their doctors make informed health care decisions while they are still healthy. For example, women with BRCA1 or BRCA2 mutations who have a vastly increased risk of developing breast or ovarian cancers may choose to undergo
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