Just a decade ago, it was inconceivable that individuals could get their entire genome — the set of approximately 20,000–25,000 genes embedded in human DNA — sequenced to screen for disease. The process was simply too expensive, so researchers focused on developing tests that focused on specific genes and specific conditions or risks. But since the cost of sequencing the human genome is steadily declining, it may soon become a commonplace test at the doctor’s office — promising a future of more informed, more personalized medicine. But as it turns out, this possibility also raises some ethical questions.
According to an article published last week at American Medical News, there are currently no guidelines for handling the information obtained from a personal genetic sequence. For example, a doctor might order a genome sequencing to screen for a patient’s risk of certain types of cancer, especially if cancer runs in the family. The sequencing could also reveal, however, that the patient is at risk for a number of other conditions ranging from high cholesterol to digestive disorders to Type 2 diabetes — a possible tidal wave of information.
The Genetic Nondiscrimination Act of 2008, which we wrote about when it took effect, already prohibits health insurers and employers from collecting genetic information or using it to discriminate against current or potential policyholders or employees. Nevertheless, privacy could still be a concern for patients — especially on the question of whether relatives, who might be at risk for many of the same conditions — should be informed of certain test results. There might also be risks for some conditions that people would rather not know about, or would rather not have their doctor know about. According to a survey described in the American Medical News article, 16 geneticists or lab directors agreed that gene variations found to raise the risk for 21 medical conditions (out of 99 on the survey) would merit disclosure to a doctor if they were found incidentally in someone’s genetic sequencing. The doctor would, of course, be ethically required to provide these results to the patient.
What do you think — would you have liked to know, years ago, whether you had a genetically based increased risk of diabetes? Are there any conditions or diseases for which you’d rather not know your risk level? Are you optimistic about the medical possibilities that genetic sequencing could offer, or worried about any possible negative social effects? Would you agree to have your genome sequenced? Leave a comment below!
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