Conflict flares over incidental genetic findings

doi:10.1126/science.373.6555.610

GSTDTAP > 气候变化

DOI	10.1126/science.373.6555.610
	Conflict flares over incidental genetic findings
	Meredith Wadman
	2021-08-06
发表期刊	Science
出版年	2021
英文摘要	Should people who volunteer for genomic studies be told about unrelated disease mutations that turn up in their sequence data? The decadeslong debate about such “incidental findings,” which can include genes that boost risk for cancer or heart disease, flared up again last week after bioethicists at the National Institutes of Health (NIH) published a study showing many participants who at first refuse those findings can change their minds. Controversially, it went on to suggest all research participants routinely be told about their genetic risks for conditions that can be prevented or treated—a change from current practice. The controversy pits researchers, many of them physicians who see incidental findings as an opportunity to boost the health of the millions who have had their genomes analyzed, against others, mainly bioethicists, who stress the need to respect study participants' right to reject such information. Deepening the divide, the study showed Black participants were more likely to refuse incidental results. “That strengthens the argument for saying we've really got to get true consent, opt-in consent from everyone,” says Susan Wolf, a lawyer who teaches health law and bioethics at the University of Minnesota Law School. In the study, investigators recontacted research participants in a large NIH study 1 to 3 years after they enrolled. Initially, 1.9% of participants declined to receive incidental findings. The team reports in Genetics in Medicine that of the 83 initial refusers, 41 changed their minds after being presented with new information, including an assurance that researchers would only return results on genes that raised the risk for serious conditions that were preventable or treatable. “I had a hypothesis that we would have a surprising number of people who would be willing to change their mind, but I had no idea how strong that would be,” says senior author Ben Berkman, a lawyer in NIH's Department of Bioethics. In current research studies that offer to return incidental findings, participants typically need to opt in, affirming their desire to receive such results. Many bioethicists say the ability to actively choose whether to be told protects patients' rights to decide what information is generated about them and to guard their privacy. Berkman and his co-authors conclude that, given the number of minds that were changed during their study, an opt-out system would be better: Researchers should notify participants that they will receive incidental results, and withhold the findings only if they actively refuse, the authors recommend. Berkman thinks the change could be lifesaving, spurring people to get medical care or early, preventive screenings for diseases like colon cancer. NIH itself appears open to that approach; the press release for the study announced, “New study brings into question current policies on receiving secondary genomic findings.” In the study, however, Black participants were significantly more likely than others to refuse incidental findings. They initially rejected receipt of secondary findings at twice the rate of white participants and were less likely to change their minds after being reapproached. “This research makes a recommendation without any regard to the Black participants' answers,” says Keisha Ray, a bioethicist at the McGovern Center for Humanities & Ethics at the University of Texas Health Science Center, Houston. “Why isn't this their recommendation: ‘Based on the answers and hesitation expressed by the Black participants and their fear that their genetic information will be misused by the NIH, we recommend that secondary genetic information should not be given to participants unless they directly consent to knowing?’” Berkman responds that the small number of Black participants—57—makes him “wary of making a concrete policy suggestion” without more data. Bioethicist Faith Fletcher of the Baylor College of Medicine says the new study points to the urgent need for more research. She calls for “work to find out why participants refused and how we use information from the study to figure out ethically informed ways to handle secondary findings.” To Robert Green, a medical geneticist at Harvard University who was not involved with the new study, it is “stunning” that only a small number of research studies return incidental results in the first place. “Only a tiny, tiny fraction of [genetic research subjects] have ever been offered the opportunity to have any of those results returned to them for their potential medical benefit.” But he thinks the zeitgeist is changing. For instance, NIH's huge All of Us study is returning incidental findings to those who opt in. Green and others stirred controversy in 2013 when they published for the American College of Medical Genetics and Genomics a list of more than 50 genes that ACMG recommended should be tested in any patient undergoing genetic screening in a clinical setting, with the information automatically returned to patients. After a storm of pushback, ACMG backed off, saying patients should be allowed to opt out of receiving such findings. One of the co-authors of the original ACMG list now calls the automatic return of incidental findings from research projects “a bridge too far.” “Even though the number of people who did not want the results back is very small,” says Robert Nussbaum, chief medical officer at Invitae, a medical diagnostics company, “do we want to ‘ride roughshod’ over [them]? The answer to that is probably no.”
领域	气候变化 ; 资源环境
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文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/335554
专题	气候变化资源环境科学
推荐引用方式 GB/T 7714	Meredith Wadman. Conflict flares over incidental genetic findings[J]. Science,2021.
APA	Meredith Wadman.(2021).Conflict flares over incidental genetic findings.Science.
MLA	Meredith Wadman."Conflict flares over incidental genetic findings".Science (2021).