The Current Landscape for Direct-To
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ANRV353-GG09-09 ARI 30 July 2008 4:18 ANNUAL The Current Landscape for REVIEWS Further Click here for quick links to Annual Reviews content online, Direct-to-Consumer Genetic including: • Other articles in this volume Testing: Legal, Ethical, and • Top cited articles • Top downloaded articles • Our comprehensive search Policy Issues Stuart Hogarth,1 Gail Javitt,2 and David Melzer3 1Department of Social Sciences, Loughborough University, Loughborough LE11 3TU, United Kingdom; email: [email protected] 2Genetics and Public Policy Center, Johns Hopkins University, Washington, DC 20036; email: [email protected] 3Epidemiology and Public Health Group, Peninsula Medical School, Exeter EX2 5DW, United Kingdom; email: [email protected] by University of California - Berkeley on 04/14/09. For personal use only. Annu. Rev. Genom. Human Genet. 2008.9:161-182. Downloaded from arjournals.annualreviews.org Annu. Rev. Genomics Hum. Genet. 2008. 9:161–82 Key Words The Annual Review of Genomics and Human Genetics personalized genomics, government regulation, DNA profiling is online at genom.annualreviews.org This article’s doi: Abstract 10.1146/annurev.genom.9.081307.164319 This review surveys the developing market for direct-to-consumer Copyright c 2008 by Annual Reviews. (DTC) genetic tests and examines the range of companies and tests All rights reserved available, the regulatory landscape, the concerns raised about DTC 1527-8204/08/0922-0161$20.00 testing, and the calls for enhanced oversight. We provide a comparative overview of the situation, particularly in the United States and Europe, by exploring the regulatory frameworks for medical devices and clini- cal laboratories. We also discuss a variety of other mechanisms such as general controls on advertising and consumer law mechanisms. 161 ANRV353-GG09-09 ARI 30 July 2008 4:18 INTRODUCTION that the tests they perform accurately predict Direct-to-consumer (DTC) genetic testing is a phenotype. The dynamic nature of the DTC market- DTC: direct to growing phenomenon in the United States and consumer (to a lesser extent) internationally. Harnessing place makes it a somewhat difficult topic for the power of the Internet and the promise of a review article. Some DTC company websites the Human Genome Project, and fueled by the that existed five years ago have disappeared, and potential for profit and consumer interest in those that are around today may not survive self-mediated healthcare, an increasing num- until this review’s publication date. Despite the ber of companies are starting to offer health- inherent fluidity of the marketplace, the com- related genetic testing services directly to the mercial allure of DTC testing, coupled with the public. lack of regulatory barriers to market entry, has The advent of DTC genetic testing has led to a steady stream of new entrants; currently sparked considerable alarm among geneticists, more than two dozen DTC companies exist public health and consumer advocates, and gov- worldwide. Although some individual players ernmental bodies (4, 36, 37, 46, 59, 77, 86, 90). may change, the phenomenon can be expected Critics of DTC genetic testing have raised a to grow in the absence of regulatory changes. number of concerns: the quality of the tests, the Moreover, DTC offerings are expanding to in- accuracy and adequacy of the information pro- clude not only single-gene tests but also large- vided by companies, and the risk that consumers scale single-nucleotide polymorphism (SNP) may be misled by false or misleading claims and profiling. Eventually, whole-genome sequenc- may make harmful healthcare decisions on the ing may be offered affordably in a DTC basis of test results (36, 37, 48, 89). Some have fashion. asserted that genetic testing should take place Given the expansive potential of DTC ge- only through a healthcare provider and with netic testing, it is important to understand adequate counseling (4). Conversely, advocates the regulatory framework in which DTC ge- of DTC testing—primarily representing pur- netic tests are offered and the regulatory ap- veyors of DTC tests—contend that a DTC ap- proaches that different countries have adopted. proach enables greater consumer awareness of This review defines genetic testing, describes by University of California - Berkeley on 04/14/09. For personal use only. and access to tests. These tests can help them the types of genetic tests that are available, improve their health and make beneficial treat- and explains the purposes for which they may ment and lifestyle decisions (10). These groups be used. We then define DTC genetic test- ing, discuss the concerns that have been raised Annu. Rev. Genom. Human Genet. 2008.9:161-182. Downloaded from arjournals.annualreviews.org also claim that DTC testing provides a pri- vacy advantage over testing through a health- about specific tests (both tests currently offered care provider (90). Little empirical evidence and those expected to be offered in the fu- exists regarding the impact of DTC testing on ture) discuss concerns about DTC marketing the public. in general, and describe what is known empiri- Government oversight of DTC genetic cally about consumer and provider awareness of testing—as with genetic testing generally—is DTC tests. Next, we summarize the regulation quite limited. Most genetic tests are not subject of DTC genetic testing in the United States to any type of government review before they and internationally, with particular focus on the are made available to the public. Federal re- European Union. We identify gaps in current quirements for genetic testing laboratories are regulations and their consequences, and discuss general in nature and do not set specific stan- regulatory efforts that have been undertaken to dards for genetic tests. Thus, DTC companies address these gaps. Finally, we describe policy face few barriers to market entry, and few gov- approaches that could be taken with respect to ernmental mechanisms exist to ensure that lab- DTC testing and analyze the merits and draw- oratories reliably obtain the correct result or backs of such approaches. 162 Hogarth · Javitt · Melzer ANRV353-GG09-09 ARI 30 July 2008 4:18 DEFINING GENETIC TESTING genetic tests to predict response to medication (76), such as Her2/neu testing prior to prescrib- DTC testing has emerged amid a period of ing the breast cancer drug Herceptin. rapid growth in the number of available ge- FDA: Food and Drug With the exception of genetic tests per- netic tests. Today, genetic tests for more than Administration formed on samples obtained through invasive 1200 diseases are available in a clinical setting medical procedures (e.g., amniocentesis), any and several hundred more are available in a re- genetic test could, in theory, be offered directly search setting (25). to consumers. Although a small fraction of tests, There is no internationally agreed upon def- which are available for more than 1500 diseases, inition of the term ‘genetic test.’ The term has are offered in this manner today, there is no been defined in various ways in United States technological barrier to offering a wide range state laws, by United States and international of DTC genetic tests, whether diagnostic, pre- advisory committees examining genetic testing dictive, or preventive. Testsoffered over the In- oversight (11, 44, 49, 50, 53, 77, 78), and in ternet include some that are conducted as part recently enacted federal legislation to prohibit of routine clinical practice, such as those for genetic discrimination (28). For the purposes mutations that cause cystic fibrosis, hemochro- of this review, genetic test refers to an analysis matosis, and Fragile X syndrome, as well as of human DNA, RNA, protein(s), or metabo- many tests that have not yet been accepted into lite(s) to diagnose or predict a heritable human routine clinical practice. This is particularly the disease; to guide treatment decisions, such as case for tests that purport to predict suscepti- drug prescribing or dosing on the basis of an in- bility to common complex conditions, such as dividual’s genetic makeup; or to predict disease cancer and heart disease. recurrence on the basis of data about multiple genes or their encoded products (e.g., RNA or proteins). Over the past decade, genetic testing has be- DEFINING DIRECT- come integral to diagnosing, predicting, and TO-CONSUMER preventing disease. Depending on the condi- The term ‘direct-to-consumer’ has been used tion under consideration, genetic testing may variously to refer to both advertising and sale by University of California - Berkeley on 04/14/09. For personal use only. be recommended throughout the life cycle. of genetic tests. In the first instance, the avail- Preimplantation genetic diagnosis (PGD) fol- ability of a test is advertised to the public, but lowing in vitro fertilization can identify em- the test must be ordered by, and the results Annu. Rev. Genom. Human Genet. 2008.9:161-182. Downloaded from arjournals.annualreviews.org bryos with specific disease-causing mutations, delivered to, a healthcare provider. This sit- such as Fanconi anemia, or desired genetic char- uation is similar to that seen for prescription acteristics, such as HLA type, prior to trans- drug advertisements in the United States, al- fer into a woman’s uterus (45). Prenatal testing though unlike prescription drugs, the genetic is performed to detect genetic abnormalities, tests being advertised are not generally sub- such as Down syndrome, in a developing fe- ject to premarket review or approval by the tus (26). Newborn screening is performed to Food and Drug Administration (FDA), as dis- diagnose certain metabolic disorders, such as cussed below. Although much policy discussion phenylketonuria (PKU), for which early inter- has concentrated on advertising, many DTC vention can prevent adverse consequences (26). companies appear to be focusing their market- Genetic tests can be used to confirm the di- ing budgets on efforts to gain favorable media agnosis of monogenic diseases, such as cystic coverage.