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Obstetrical & Gynecological Survey:
doi: 10.1097/01.ogx.0000427631.72887.e0
Errata

Direct to Consumer Genetic Testing: A Systematic Review of Position Statements, Policies and Recommendations

Skirton, H.; Goldsmith, L.; Jackson, L.; O’Connor, L. A.

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Faculty of Health, Education and Society, Plymouth University, Plymouth, United Kingdom

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Abstract

Within the health care system, genetic tests for monogenic disorders are ordered by a health professional, and the results are interpreted and conveyed to the patient by that person. With the availability of direct-to-consumer genetic testing (DTCGT), individuals can buy genetic testing kits and obtain results without the assistance of a professional. One factor mentioned in support of DTCGT is that individuals can make an autonomous choice to have a test that may affect their health. However, these persons must be aware of the value, risks, and benefits of a particular test. Often, information provided with a DTCGT is difficult to understand, or critical data are unavailable. Professional societies/organizations either want to prohibit such tests or accept them with specific controls and conditions. This review was undertaken to assess the current position statements and recommendations of several professional organizations on the use of DTCGT.

Relevant electronic databases and Web pages were searched using the terms “direct to consumer” and “genetic test.” The review included documents describing a position statement, policy, guideline, or recommendations for use of DTCGT related directly to health in any country and produced by a professional organization or other relevant body. From 305 items for review, 300 were excluded; other items were found through searches of Google and health professional and bioethics Web sites, resulting in 14 documents available for review.

Six documents were produced by professional colleges or societies in the United States, 2 by European societies, and 6 by public bodies in Europe. Potential benefits of DTCGT described included the right of individuals to have access to their own genetic information (personal autonomy), but this was weighed against the use of inappropriate tests and threats to an individual’s well-being. Three groups thought the benefits included availability of additional information, an empowering effect, and improved access to genetic testing. Other benefits were avoidance of unneeded clinical investigations or screening and initiation of early intervention in the context of equitable access to tests.

The most common potential harms were risks to the individual’s privacy/confidentiality, consumers’ failure to recognize that results might have an effect on their future insurance or employment status, an overstatement of the actual predictive power of the results obtained through the tests, and questionable value of the results. Most organizations expressed concerns that users might be inappropriately reassured by inaccurate test results or by misinterpreting results. Four organizations indicated that tests should not be available for diagnostic or predictive purposes, tests should be discouraged, or only genetic tests meeting stringent criteria should be available. Recommendations were made that trained and qualified health professionals must provide accurate information and counseling before and after the testing. These aspects could place additional burdens on health care systems when consumers require information and support after performing the tests. Education of health professionals is necessary to support consumers undergoing DTCGT.

These results suggest that professional associations and public organizations are more concerned about potential harms for patients using DTCGT than they are supportive of possible benefits. Although these professional organizations voiced concerns about the use of DTCGT, each has its own approach and recommendations. Because marketing of DTCGT is now international, a more coherent and systematic approach is required to ensure that health professionals are well informed about the potential advantages and risks to their patients. This approach would require a standard for information provided to professionals and consumers, identification of tests that should not be available without access to genetic counseling, and sufficient education for health professionals regarding the tests.

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EDITORIAL COMMENT

(Direct-to-consumer (DTC) genetic testing is a somewhat controversial endeavor whereby genetic testing companies allow patients to purchase genetic tests online, provide a sample containing DNA (usually saliva), and to receive their genetic test results directly, rather than through the usual health care channels. For $299, you as a consumer can “be your own best advocate” (per the 23andMe Web site) and the company can then “help you manage risk and make informed decisions.” Advocates argue that this allows individuals to make autonomous (and anonymous) choices about testing, whereas opponents point to the complexity of genetic testing implications and result interpretation. Professional organizations have taken a variety of stands on this issue, from those that suggest a complete prohibition of DTC testing, to those that feel that this option is acceptable, provided adequate education and support are available.

This abstracted piece is an interesting article that reviews published position statements, policies, and recommendations of various professional organizations regarding the issue of DTC testing. The authors identified 14 relevant statements from a diverse group of organizations primarily in the United States and Europe and representing geneticists, obstetricians, nurses, and genetic counselors. Although the opinions run the gamut from very negative to at least marginally accepting, there are interesting common themes that are useful to consider.

As a general rule, the competing issues are the right of individuals to have access to their own genetic information, a right that falls under the category of autonomy if one is considering this as an ethical issue. The potential harms considered by organizations include the risk of loss of privacy and confidentiality, and probably more importantly the provision of results that are of questionable quality, validity, accuracy, and value. Many of the groups suggest, rightfully so, that consumers might be inappropriately reassured by inaccurate results or through misinterpretation of results, or conversely that they might make misinformed decisions regarding lifestyle or health care and pursue unnecessary and even harmful interventions or treatments. Clearly, the importance of genetic counseling cannot be emphasized enough.

For many providers, as well as patients, genetics is a complex field. Many nongeneticists do not completely understand the difference between single-gene disorders, in which there is a direct and clear relationship between a gene and a disease (eg, Huntington disease), and single-nucleotide polymorphisms, in which there may be only a weak association with a disease. Such associations are often described in only 1 or 2 studies and with very small relative risks or odds ratios. Many of the organizations included in this article discuss the additional burden that may be placed on the health care system as a result of consumers obtaining these tests, receiving positive results, and subsequently requiring information and support to understand and interpret them. Given the large number of analyses that are performed, and the way they are interpreted and reported, essentially all consumers are at “increased risk” for some diseases. Further education of health care providers is likely also going to be necessary to help them understand and explain the concept of low clinical utility in these circumstances.

Interestingly, many of the groups recommended the importance of involvement of trained professionals in pretest and posttest counseling, which would seem to rather defeat the purpose. Genetic testing seems particularly predisposed to paternalistic concerns, perhaps because genetic test results are often difficult to interpret even by medical professionals. In addition, it is rare in other areas of medicine that a patient would choose to pursue any kind of DTC care, although potentially cancer screening might fall under a similar paradigm, with some patients requesting “whole-body scans” or other tests of low predictive value. In genetic testing, these tests are frequently done to predict the likelihood of disease, and that becomes a much more individual decision, as to whether knowing that you have an increased likelihood of cardiovascular disease, Alzheimer disease, or other late-onset conditions is useful or important. The problem is not really whether the patient does or does not want to know; the question is more whether these tests really provide that information in a reliable way. In general, they do not, and that is the crux of the matter.

Countries and health care systems have very different approaches to genetic and DTC testing. In 2009, German legislation made it illegal for a genetic test to be offered without the involvement of a doctor (http://www.phgfoundation.org/news/4562/). In the United States, there is really no regulation of genetic testing, although the Food and Drug Administration does regulate genetic test “kits” as medical devices. In the past year or two, they have considered regulation of the DTC companies, arguing that they are in fact marketing genetic “kits” rather than just tests. This subject in the United States, however, remains unresolved.

Given the wide variety of recommendations, it is clear that there is no agreement even between medical professionals regarding these tests. The authors of the article note that perhaps a set of minimum standards could be agreed upon, including a minimum amount of information that should be available to the consumer, agreement on those tests that should not be offered as DTC tests without “genuine access” to genetic counseling (I suspect they are referring to tests such as BRCA), and the need for appropriate education of health professionals to enable them to offer advice and information to their patients. Certainly, these seem like minimal standards that should be met. In the meantime, if your patients arrive on your doorstep with complex results from a DTC company, the logical next step is to refer them to a genetic counselor.—MEN)

© 2013 Lippincott Williams & Wilkins, Inc.

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