Research and Medical Issues

The Internet is a tool that enables DTC genetic testing companies to reach and serve a large, diverse market and to do this almost entirely outside the institutions and constraints of medicine and medical research. In the process, these companies are rapidly amassing an unprecedented wealth of genetic samples and data, a resource that might be of great value in medical genetics research, although it must be recognized that the related phenotypic information proffered by clients is likely to be incomplete and of uneven quality.

Are DTC genetic testing companies actually practicing medicine? Do they have a therapeutic relationship with their customers—and the responsibilities such a relationship entails? At what point does a relationship become therapeutic? Does the employment of genetic counselors imply that a therapeutic relationship exists? DTC companies maintain that it is not their intent to practice medicine or to enter into a therapeutic relationship with their clients, and they do not consider themselves to be doing so.1

Are the companies’ customers de facto human research subjects? What are customers’ rights with respect to their samples, data, and any benefits of the research conducted using them? Should these companies’ activities be governed by institutional review boards (IRBs) or other oversight bodies, such as HIPPA Privacy Boards or similar bodies addressing risks to privacy? Are their current informed consent documents and procedures sufficient to protect clients?

1

 This sentence reflects the remarks of K. David Becker, Chief Scientific Officer, Pathway Genomics Corporation, and Elissa Levin, Director, Genetic Counseling Program, Navigenics, Inc.



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Research and Medical Issues The Internet is a tool that enables DTC genetic testing companies to reach and serve a large, diverse market and to do this almost entirely out- side the institutions and constraints of medicine and medical research. In the process, these companies are rapidly amassing an unprecedented wealth of genetic samples and data, a resource that might be of great value in medical genetics research, although it must be recognized that the related phenotypic information proffered by clients is likely to be incomplete and of uneven quality. Are DTC genetic testing companies actually practicing medicine? Do they have a therapeutic relationship with their customers—and the responsibilities such a relationship entails? At what point does a rela - tionship become therapeutic? Does the employment of genetic coun- selors imply that a therapeutic relationship exists? DTC companies maintain that it is not their intent to practice medicine or to enter into a therapeutic relationship with their clients, and they do not consider themselves to be doing so.1 Are the companies’ customers de facto human research subjects? What are customers’ rights with respect to their samples, data, and any benefits of the research conducted using them? Should these com- panies’ activities be governed by institutional review boards (IRBs) or other oversight bodies, such as HIPPA Privacy Boards or similar bodies addressing risks to privacy? Are their current informed consent docu- ments and procedures sufficient to protect clients? 1 This sentence reflects the remarks of K. David Becker, Chief Scientific Officer, Pathway Ge- nomics Corporation, and Elissa Levin, Director, Genetic Counseling Program, Navigenics, Inc. 

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0 DIRECT-TO-CONSUMER GENETIC TESTING HUMAN RESEARCH SUBJECTS, INSTITUTIONAL REVIEW BOARDS, AND INFORMED CONSENT The DTC genetic testing company Navigenics is collaborating with the Scripps Translational Science Institute in an ambitious study that will follow 10,000 participants for 20 years, researching the predic- tive value of genetic risk markers, looking at outcomes, and evaluat- ing the effectiveness of behavior modification. Although the Scripps IRB reviewed and approved the collaboration—including Navigenics’ role—DTC genetic testing companies’ research is not necessarily over- seen by IRBs.2 Whether a genetic test is provided direct-to-consumer or in a more traditional clinical setting, ensuring that the client fully understands the test’s risks as well as its benefits is critical. One potential risk, of course, is loss of genetic privacy and the many types of personal, emotional and financial harm that could ensue. A document designed to ensure that a client is giving free and informed consent must include an adequate description of the policies and procedures for securely handling the samples and the resulting data—including collecting, identifying and de- identifying, storing, using, sharing and destroying them. The factors and considerations that make up informed consent are many and complex. Is the customer, for example, merely consenting to have the DTC genetic testing done? Or is the individual also consenting to have the test results used for research? May a client consent to have the testing done with - out having his or her results used in research? One DTC company, in trying to streamline and clarify its informed consent document without weakening its protections, has so far managed to reduce the document to “only” six pages.3 A complicating factor relates to individuals who are unable to give informed consent—either test subjects who are minors, or a test subject’s relatives—but whose lives could nevertheless be affected by the results. In China, for approximately $900, parents in Chongqing, PRC, can send their children—ages three to 12 years old—to a five-day camp for DNA testing to identify their gifts and talents, so they can focus on those strengths from an early age. According to the director of the Chongqing Children’s Palace, “Nowadays, competition in the 2 Fromthe remarks of Elissa Levin, Director, Genetic Counseling Program, Navigenics, Inc. 3This sentence taken from the remarks of Scott Woodward, Director, Sorenson Molecular Genealogy Foundation.

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 RESEARCH AND MEDICAL ISSUES “What does all this mean for the future of the perhaps archaic concept that we still teach in medical school called the therapeutic relationship? ... When does a client enter into a therapeutic relationship with you, with your company, with the employees of your company?” Jonathan D. Moreno, Ph.D. David and Lyn Silfen University Professor Center for Bioethics, University of Pennsylvania Health System “Is this actually the practice of medicine or not? If we are going to have these companies that actually are going to be putting some reports out providing risk assessment, even though you only do the risk calculation, you are providing information where clinical decisions will be made.” Andrea Ferreira-Gonzalez, M.D. Professor of Pathology, Virginia Commonwealth University (VCU) and Director, The Molecular Diagnostics Laboratory, VCU Health System “Genetic information actually has a kinship relatedness to it... your close kin are also being dragged into this society without even knowing it, let alone consenting to it.” David Korn, M.D. Vice Provost for Research Harvard University world is about who has the most talent. We can give Chinese children an effective, scientific plan at an early age.”4 In contrast, the framework of principles developed by the United Kingdom recommends that genetic testing of minors should only be carried out if there is a specific medical indication and if delaying the test till the age of consent might adversely affect that individual’s medical care.5 A similar view seems to be the norm in the United States. However, the issue of protecting “innocent bystanders”—customers’ family members and extended kin- 4 Chang E., In China, DNA tests on kids ID genetic gifts, careers, August 5, 2009. CNN (Avail- able online at www.edition.cnn.com/2009/WORLD/asiapcf/08/03/china.dna.children.ability/, Accessed: March 29, 2010. Presented by Sandra Soo-Jin Lee, Senior Research Scholar, Stanford Center for Biomedical Ethics. 5 From the remarks of Timothy Aitman, Professor of Clinical and Molecular Genetics, Division of Clinical Sciences, Imperial College London.

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 DIRECT-TO-CONSUMER GENETIC TESTING ship, who may not want their own genetic information revealed, even to themselves—will not be so easily addressed. QUESTIONS RAISED FOR FURTHER DISCUSSION • When should DTC genetic tests be considered diagnostic, and when are DTC genetic testing companies practicing medicine? • How can immediate or extended family members of tested indi- viduals be protected from learning their genetic information if they choose not to, or from the effects of others’ learning about it? • Are DTC genetic testing companies subject to CLIA, HIPAA, and various state laws regulating clinical laboratories or the practice of medicine or not? This needs to be clarified, and consumers need to know and to understand the implications. • Under what circumstances should DTC genetic testing custom- ers be considered human research subjects and how should they be protected? • Should DTC genetic testing companies use a common informed consent document (or a tailored version thereof), and if so, how should it be structured and worded so that it is comprehensive, understandable, clear and simple, and adequately protective? • Should research conducted by DTC genetic testing companies, which is not covered by the Common Rule protecting human subjects and therefore not required to undergo review by an IRB, be required to undergo review by an IRB?