The ethics of direct-to-consumer genetic testing
2010; Elsevier BV; Volume: 376; Issue: 9750 Linguagem: Inglês
10.1016/s0140-6736(10)61939-3
ISSN1474-547X
Autores Tópico(s)Biomedical Ethics and Regulation
ResumoThe US Government Accountability Office has labelled them misleading, but personal genetic tests continue to grow in popularity. Laurie Udesky looks at the ethical issues involved. A report into a 1-year investigation of genetic testing firms selling directly to consumers by the US Government Accountability Office (GAO) concluded in July that test results were “misleading, and of little or no practical use”. As a result of the investigation, the US Food and Drug Administration is in the process of tightening regulations for firms that sell home genetic testing kits. On their websites the direct-to-consumer genetic firms look authoritative: they encourage customers to consult their doctors or seek genetic counselling before and after results, ask customers to sign informed consent forms, and provide information on the ostensible scientific validity of the results they provide. But the GAO report describes how 15 companies responded to inquiries from five undercover consumers who had submitted their DNA samples for testing. GAO investigators found “egregious examples” of deceptive marketing, in addition to poor or non-existent advice from supposed consultation experts. The report also raised concerns about privacy: what happens to your DNA once you send it to a private company? All these issues raise ethical concerns about providing genetic testing directly to consumers. One of the most obvious problems, according to experts in genetics, is the packaging together of tests for seemingly trivial traits, such as whether you possess genetic variations for curly hair or male-pattern baldness, along with potentially life-changing tests for predicting your risk for serious, life-threatening illnesses such as Alzheimer's disease. “What are they marketing, and what do they actually offer?” asks Charis Eng, the chair and director of the Genomic Medicine Institute, the director of the Center for Personalized Genetic Healthcare, and a clinical research professor at the Cleveland Clinic Lerner Research Institute. “If a company says this is for fun, and it has no meaning, that's fine. But we often see companies saying it's for fun and it's how they get around regulations, when they are offering testing that may affect or is perceived as affecting clinical outcome.” Expanding on the GAO's finding that test results from genetic firms can mislead, Eng explains that what is offered in the health profiles are genetic tests that do not give risk predictions that have any clinical relevance. However, she says, results can come with a “red bar showing increased risk” that appears very dramatic. Such profiles, she says, “falsely alarm or falsely assure, and that's not good.” Erynn Gordon, the director of genetic counselling at the Coriell Personalized Medicine Collaborative, agrees that consumers might not understand what the test shows or what the results mean. “Even for single gene testing there are always variables that make testing more complicated.” As one example, she points to the BRCA1 and BRCA2 genes. Mutations of these genes are linked to hereditary breast and ovarian cancers. But there's always the possibility of mutations of “uncertain significance”, which she says means “it could be completely benign or it could be a disease-causing mutation, but we haven't seen it in enough people or tracked it in enough cases to assign meaning to it.” Such examples, say Gordon and Eng, emphasise the need for genetic counseling both before and after a genetic test, which GAO investigators say was inadequately provided to the undercover consumer investigators. GAO experts said that counselling offered to their undercover consumers “provided little guidance”, and “at times, it seemed as though they were simply reading information directly from these [test] reports”. When one undercover consumer asked about his increased risk of colon cancer, a so-called company expert told him, “while he should become familiar with the symptoms such as blood in the stool, there was not much else he could do because colon cancer is quite silent.” The lack of guidance could be among the reasons that some governments have already stepped in to intervene in this fledgling industry. In February, 2010, Germany passed a law requiring “predictive genetic examinations to be conducted or commissioned only by doctors who specialize in human genetics, or by other similarly qualified and specialized medical doctors”. A recently published report from the London-based Nuffield Council on Bioethics also raised the ethical issue of whether it is appropriate to frame “a view of health as a kind of consumption good, and hence of health products and services as commodities.” Elaborating further, the report argues that products such as direct-to-consumer genetic tests are advertised, traded, and marketed “not merely to respond to consumer demand, but also to reshape such demand to create and sustain a market”. Another ethical concern is that some risk predictions offered by direct-to-consumer genetics firms are associated with conditions for which consumers might not be able to take any action, says Gordon. This raises the question of whether taking some tests “can cause more harm than good”. Historically, a good although unique case in point is the psychological effect on patients who sought genetic tests for Huntington's disease. “When testing was first offered, there was a reasonably high suicide rate after testing, partly because the disease has psychiatric symptoms”, says Gordon. “The testing seemed to precipitate suicide in individuals upon learning they had this disease that they could do nothing about.” That suicides were associated with genetic testing for the incurable and untreatable disease, explains Gordon, led to requirements that anyone seeking testing for Huntington's must first receive a psychiatric assessment. Beyond the question of appropriate counselling, GAO investigators expressed concern about surreptitious testing. The report noted that company websites require clear consent from customers before they submit a DNA sample. However, “representatives from [two companies] told our fictitious consumer that she could secretly send in her fiancée's DNA and surprise him with the results”. “It is not known to what extent surreptitious DNA testing currently is taking place”, according to an issue brief published by the Genetics and Public Policy Center at Johns Hopkins University. “While some direct-to-consumer testing companies request a particular specimen type and amount—such as a vial of saliva or a cheek swab—that may preclude surreptitious sample collection, other companies are willing and able to analyze DNA left on discarded items such as chewing gum, used Q-tips, cigarette butts, or strands of hair.” At a US Congressional hearing in July, 2010 that stemmed from the GAO report, James P Evans, a physician and editor-in-chief of Genetics in Medicine, wondered “what do we do when a company goes bankrupt and ownership of your uniquely identifying genetic information suddenly may become the property of a venture capital firm? We need clear and enforceable guidelines for how such information is handled by its (likely numerous) owners.” In fact, there are no such protections in place. “There are very few States that have laws that broadly protect against unauthorised use of genetic information”, said Gail Javitt, the former director of the Genetics and Public Policy Center, and a research scholar at Johns Hopkins Berman Institute of Biomedical Ethics. “So that leaves open the question when providing a bio sample to a company, what are they doing with that information?” In order to regulate genetic testing in a way that is ethical and appropriate, Javitt insists that regulations need to be “risk-based—meaning the requirements that a company needs to meet should be commensurate with the risk associated with the test if that information is incorrect or misinterpreted. Regulation should ensure that the laboratory performs testing accurately, that the claims made about the test are adequately supported by scientific evidence, and that tests can adequately be interpreted by the recipients.” The Nuffield Council on Bioethics recommends that genetic testing firms should make how they maintain the security of the data from DNA samples, including what happens to the data if the company goes out of business, “prominently available in lay language” to potential consumers. The report also recommended that firms disclose clearly if any third parties have access to DNA information, and where to find independent information about the type of testing offered on government websites. Additionally, the report said, in order to protect against surreptitious testing, websites of firms should have consumers confirm online that the sample they are submitting is their own before they buy the genetic tests. As of now, Gordon says, her personal opinion is that “it's not ethical to market genetic testing directly to consumers when the science behind the risk assessment varies.” However, she says, “the question that raises is, who decides when the science is mature enough?” Department of ErrorUdesky L. The ethics of direct-to-consumer genetic testing. Lancet 2010; 376: 1377–78—In this World Report (Oct 23) the standfirst should have read: “The US Government Accountability Office has labelled them misleading, but personal genetic tests continue to grow in popularity.” The first sentence should have read: “A report into a 1-year investigation of genetic testing firms selling directly to consumers by the US Government Accountability Office (GAO) concluded in July that test results were ‘misleading, and of little or no practical use’.” These corrections have been made to the online version as of March 4, 2011. Full-Text PDF
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