Scientists discover DNA might not be that useful as part of your annual checkup
Since the human genome was first sequenced in 2003, the immense promise of a technology that can reveal the 6 billion letters that make each of us who we are has loomed large as a way to revolutionize nearly every aspect of human health, from what we know about ourselves the day we are born to how to stave off the day that we die. But the ability to peer into the most fundamental biology of a human being has raised a slew of ethical questions and one that is even more simple: when is that information useful?
If people are healthy, the answer seems to be not very often according to a new, four-year clinical trial that exhaustively studied the use of genome sequencing of healthy adults by a primary care doctor, anticipating the day that this information becomes part of everyones medical record. Learning their genomic results didnt appear to harm anyone, but also didnt provide any clear short-term health benefits -- and it did drive up health spending compared to patients who simply got a detailed family history.
Contrary to longstanding ethical concerns that people will suffer psychological ill effects by learning things they dont want to know in their DNA, people did not experience anxiety or depression in the six months after receiving the results. They racked up an average of $350 more in health care costs, although the relatively small number of people in the study meant the difference wasnt statistically significant. And while 11 in 50 of the people who were sequenced found out they carried rare genetic mutations that put them at risk of a disease, that information had few health implications for the majority of the patients, who showed no signs of the diseases.
In a few cases, patients might still develop those diseases in future, but that was far from certain. And, reflecting the fluid and evolving understanding of DNA, one mutation that was reported back to a patient was reclassified and was no longer considered a risk factor by the end of the study.
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