Perspective
Preparing for a Consumer-Driven Genomic Age
N Engl J Med 2010; 363:1099-1103September 16, 2010
- Article
Advances in genomic technologies permit the simultaneous analysis of millions of variants across the genome and may soon allow for meaningful estimation of one's risks of developing cancer, diabetes, and other common diseases. These advances are converging with the movement toward consumer-driven health care and patient empowerment. Whereas in the past, medical testing was firmly under the control of medical practitioners, genomic information is now increasingly available outside traditional medical settings. Patients are no longer subordinate, passive recipients of physician-initiated genetic testing; rather, patients can instigate their own testing and often know more than their clinicians about particular genetic topics. Indeed, health care providers are increasingly bypassed altogether, as patients embrace direct-to-consumer (DTC) genetic tests and turn to social networks for help in interpreting their results. In the future, a primary role of health care professionals may be to interpret patients' DTC genetic test results and advise them about appropriate follow-up.
How can we maximize the benefits of these new developments and minimize the harms? How can we encourage patients' involvement and autonomy yet establish appropriate safeguards while avoiding inappropriate paternalism? How do we promote the understanding that interpretations of genomic information may evolve as research unravels the meaning of gene–gene and gene–environment interactions and the roles of noncoding DNA sequences, copy-number variants, epigenetic mechanisms, and behavioral factors in health and disease?
A first step is to define the challenges that stand in the way of realizing the promise of genomic medicine. These include addressing gaps in the oversight of genetic testing (including regulation of companies providing test interpretation services), ensuring that realistic claims are made in promotional materials for genetic testing, determining the appropriate role of new genomic technologies in patient care, ensuring the privacy of patients' genomic data, and improving insurance coverage and reimbursement for genetic services. The Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS), on which two of us serve, advises the secretary of health and human services and reports on these issues.
A 2008 SACGHS report identified multiple regulatory gaps in the oversight of genetic testing (SACGHS documents are available through the Office of Biotechnology Activities at the National Institutes of Health, http://oba.od.nih.gov/oba), and federal agencies have begun to address these gaps. For example, investigations by the Federal Trade Commission (FTC) of claims made by two nutrigenetics companies1 led to the discontinuation of the manufacturing and marketing of the MyCellf Program, which included a test kit and consultation service. In addition, the Food and Drug Administration (FDA) held a public meeting July 19 and 20, 2010, to initiate a dialogue with stakeholders concerning the regulation of laboratory-developed tests,2 most of which are not required to undergo premarketing FDA review. These efforts are commendable; however, the SACGHS has urged Secretary Kathleen Sebelius to consider additional oversight measures appropriate to this age of consumerism. As the SACGHS noted in its 2008 report, the FTC must step up its efforts to monitor promotional materials and address exaggerated and inconsistent claims. For example, some companies claim that genetic testing allows consumers to “take charge of their health” but simultaneously claim that they don't provide medical advice. Such contradictory claims are potentially harmful.
Direct consumer involvement in the genetic revolution is to be welcomed, but consumers must be protected from unrealistic claims and misinterpretations of complex, dynamic genomic information. Numerous studies indicate that most primary care providers struggle to interpret single-gene tests (e.g., for BRCA1 and BRCA2) and are unprepared for the genomic age. Commercial entities attempting to fill this void by providing interpretive services must be regulated so that consumers are not left vulnerable. Toward this end, the SACGHS has recommended that the FDA apply its authority for risk-based regulation to genetic tests, including test interpretation.
In many cases, there is little or no evidence of the clinical validity of genetic tests. Data on clinical validity are limited because they can be difficult and expensive to obtain and because there is generally no FDA requirement for the premarketing submission of such data. Moreover, the Centers for Medicare and Medicaid Services, which regulates laboratories performing genetic tests, has no authority to require submission of data addressing clinical validity. As a result, providers and consumers often do not have adequate information to use genetic tests properly. To address this gap, the SACGHS has recommended that the Department of Health and Human Services (DHHS) develop and maintain a registry for laboratory tests that includes clinical-validity data. This March, National Institutes of Health (NIH) Director Francis Collins announced that the NIH will develop a voluntary genetic testing registry to address this need,3 and a Request for Information to solicit public comments was issued in June.4 The SACGHS has also recommended enhancing reference databases on gene–disease associations that inform assessments of clinical validity.
The limited availability of relevant data also hampers the assessment of the clinical utility (real-world usefulness) of genetic tests. Such tests are being developed far more rapidly than their utility can be evaluated, and the process is complicated by the fact that health care providers, payers, and patients may all define clinical utility differently. Thus, in its 2008 report, the SACGHS recommended that the DHHS conduct and support primary studies and systematic evidence reviews that can inform rational decisions about using genetic testing and new genomic technologies.
The SACGHS has also considered the question of ownership of private genomic data by entities offering DTC testing. Will genomic data become a commercialized resource? Who can and will regulate such commercialization? What happens to consumers' genomic data when a company is sold, merged, or dismantled? Recently, an Iceland-based company that offered DTC genetic services filed for bankruptcy; a possible outcome was that its database would become the property of a venture capital firm. How can privacy be maintained in such transactions? In its 2010 report on DTC genetic testing, the SACGHS recommended that the DHHS Office for Civil Rights propose strategies for protecting consumers from compromises of their privacy.
Congress and the Government Accountability Office (GAO) are also interested in DTC genetic testing. On July 22, 2010, the House Energy and Commerce Committee's Subcommittee on Oversight and Investigations held public hearings in which company officials and independent experts on DTC matters testified. The GAO also released a report describing stark inconsistencies among purveyors of DTC genetic testing.5 As new technologies increasingly allow consumers to avail themselves of their own genomic information, attention must be paid to ensuring an appropriate balance between innovation and consumer protection and to finding the correct middle ground between premature implementation of new testing and unnecessary delay.
Whoever ends up having to grapple with an avalanche of genomic information will require adequate reimbursement for the time-consuming interpretation of these data and communication of their meaning to patients. Yet most genetic counselors cannot bill directly for counseling services, and the available Current Procedural Terminology codes are insufficient to cover physicians' cognitive services. In addition, adequate payment for laboratory services is essential. In 2009, the SACGHS made recommendations to Secretary Sebelius regarding ensuring adequate remuneration for genetic testing services (http://oba.od.nih.gov/oba).
Earlier this year, the SACGHS submitted a report to the secretary on the impact of gene patents and licensing practices on patients' access to genetic tests. It is also preparing a report on the need for genetics education for point-of-care practitioners, public health officials, and consumers and has begun to explore the implications of affordable whole-genome sequencing.
We must ensure that rapidly evolving and multiplying genomic technologies are responsibly harnessed and that their promise is not oversold to the public. It will be important to continue to advocate for rigorous evaluations of the clinical validity and utility of genomic tests, as well as for adequate regulation that simultaneously preserves innovation. Clinicians, researchers, academics, the private sector, and the government must work together if we are to realize the remarkable potential of genomic medicine.
Disclosure forms provided by the authors are available with the full text of this article at NEJM.org.
This article (10.1056/NEJMp1006202) was published on August 18, 2010, at NEJM.org.
Source Information
From the Secretary's Advisory Committee on Genetics, Health, and Society, Washington, DC (J.P.E., D.C.D.); the University of North Carolina, Chapel Hill (J.P.E.); the University of Washington, Seattle (D.C.D.); and the Office of Biotechnology Activities, National Institutes of Health, Bethesda, MD (C.F.).
- References
References
1
Letters from Mary K. Engle, Associate Director, Federal Trade Commission, to Sciona, Inc., and Genelex Corporation, August 14, 2009. (Accessed August 3, 2010, at http://www.ftc.gov/os/closings/090814scionaclosingletter.pdf and http://www.ftc.gov/os/closings/090814genelexclosingletter.pdf.)
2
Oversight of laboratory developed tests: public meeting: request for comments. Fed Regist 2010;75:33463-34464
3
NIH announces Genetic Testing Registry. News release of the National Institutes of Health, March 18, 2010. (Accessed August 3, 2010, at http://www.nih.gov/news/health/mar2010/od-18.htm.)
4
Request for Information (RFI) on the National Institutes of Health plan to develop the Genetic Testing Registry. Fed Regist 2010;75:33317-33319
5
Testimony before the Subcommittee on Oversight and Investigations, Committee on Energy and Commerce, House of Representatives. Direct-to-consumer genetic tests: misleading test results are further complicated by deceptive marketing and other questionable practices. Statement of Gregory Kutz, Managing Director, Forensic Audits and Special Investigations. (Accessed August 3, 2010, at http://www.gao.gov/new.items/d10847t.pdf.)
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Citing Articles
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C. S. Bloss, B. F. Darst, E. J. Topol, N. J. Schork. (2011) Direct-to-consumer personalized genomic testing. Human Molecular Genetics 20:R2, R132-R141
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Larry J. Kricka, Paolo Fortina, Yuan Mai, George P. Patrinos. (2011) Ethics watch: Direct-access genetic testing: the view from Europe. Nature Reviews Genetics 12:10, 670-670
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Karen P. Powell, Whitney A. Cogswell, Carol A. Christianson, Gaurav Dave, Amit Verma, Sonja Eubanks, Vincent C. Henrich. (2011) Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing. Journal of Genetic Counseling
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W. Burke, B. Tarini, N. A. Press, J. P. Evans. (2011) Genetic Screening. Epidemiologic Reviews 33:1, 148-164
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Paul E. Drawz, John R. Sedor. (2011) The genetics of common kidney disease: a pathway toward clinical relevance. Nature Reviews Nephrology 7:8, 458-468
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Claire Julian-Reynier. (2011) Prédisposition génétique aux cancers du sein et de l’ovaire. médecine/sciences 27:6-7, 657-661
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Michael V. Holmes, Seamus Harrison, Philippa J. Talmud, Aroon D. Hingorani, Steve E. Humphries. (2011) Utility of genetic determinants of lipids and cardiovascular events in assessing risk. Nature Reviews Cardiology 8:4, 207-221
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Paul J. Clark, Alexander J. V. Thompson, Andrew J. Muir. (2011) IL28B Polymorphisms and Treatment of Hepatitis C. Current Hepatitis Reports 10:1, 70-78
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Jenny Reardon. (2011) The ‘persons’ and ‘genomics’ of personal genomics. Personalized Medicine 8:1, 95-107
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Dimitrios H Roukos. (2011) Innovation versus evidence: to trust direct-to-consumer personal genomic tests?. Expert Review of Molecular Diagnostics 11:1, 1-4
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Christos Katsios, Dimosthenis E. Ziogas, Theodore Liakakos, Odysseas Zoras, Dimitrios H. Roukos. (2010) Translating Cancer Genomes Sequencing Revolution into Surgical Oncology Practice. Journal of Surgical Research
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Jennifer K. Wagner. (2010) Understanding FDA Regulation of DTC Genetic Tests within the Context of Administrative Law. The American Journal of Human Genetics 87:4, 451-456
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