Healthy Skepticism Library item: 18873

Warning: This library includes all items relevant to health product marketing that we are aware of regardless of quality. Often we do not agree with all or part of the contents.

Publication type: Journal Article

Udesky L
The ethics of direct-to-consumer genetic testing
The Lancet 2010 Oct 23; 376:(9750):1377 - 1378
http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(10)61939-3/fulltext

Abstract:

The US General Accounting 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 General Accounting 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”.