Translating Personalized Medicine Using New Genetic Technologies in Clinical Practice: The Ethical Issues

Abstract

The integration of new genetic technologies into clinical practice holds great promise for the personalization of medical care, particularly the use of large-scale DNA sequencing for genome-wide genetic testing. However, these technologies also yield unprecedented amounts of information whose clinical implications are not fully understood, and we are still developing technical standards for measuring sequence accuracy. These technical and clinical challenges raise ethical issues that are similar to but qualitatively different from those that we are accustomed to dealing with for traditional medical genetics. The sheer amount of information afforded by genome sequencing requires rethinking of how to implement core ethical principles including, but not limited to: informed consent, privacy and data ownership and sharing, technology regulation, issues of access, particularly as new technology is integrated into clinical practice, and issues of potential stigma and impact on perceptions of disability. In this article, we will review the issues of informed consent, privacy, data ownership and technology regulation as they relate to the emerging field of personalized medicine and genomics.

Ethical challenges and innovations in the dissemination of genomic data: the experience of the PERSPECTIVE project

“…However, whether this system serves society's best interest is subject to vigorous debate. 47,48 On the other hand, there are many challenges to this formal system and whether it ensures fair recognition of researchers involved in infrastructure science such as databases or biorepositories. 45,46 This issue of due recognition for researcher involvement was discussed during the development of PERSPECTIVE.…”

“…Monopolies on clinical genetic technology can directly affect the quality of patient care. 47 Business-oriented strategies and monopolies can undermine the capacity of physicians to estimate patient risk. 52 The cost of commercial patented genetic tests could be an important barrier for people in low-income countries, such as the case for noninvasive prenatal genetic testing.…”

“Forward-Thinking” in U.S. Biobanking

“…To date, there is little federal law addressing ownership of specimens in biobanks or rights to technologies developed from research use of the specimens. Given that uncertainty, best practice guidelines largely sidestep ownership of specimens or technology altogether, orienting their guidance toward authority to control the use and storage of specimens, such as references to biobanks as ''custodians'' of specimens (NCI, 2011;ISBER, 2012 (Lepsch, 2012;Ormond and Cho, 2014). However, the numerous ownership disputes that are not litigated remind us that courts of law do not remedy all ownership issues (e.g., De Souza and Greenspan, 2013;Ormond and Cho, 2014).…”

“…Given that uncertainty, best practice guidelines largely sidestep ownership of specimens or technology altogether, orienting their guidance toward authority to control the use and storage of specimens, such as references to biobanks as ''custodians'' of specimens (NCI, 2011;ISBER, 2012 (Lepsch, 2012;Ormond and Cho, 2014). However, the numerous ownership disputes that are not litigated remind us that courts of law do not remedy all ownership issues (e.g., De Souza and Greenspan, 2013;Ormond and Cho, 2014). Furthermore, high profile cases brought to public attention through the publication of a book detailing the story of Henrietta Lacks and the HeLA cell line (Skloot, 2010) or by the media's portrayal of the plight of the Havasupai Native Americans in a legal battle over the extent of research uses of their specimens (Havasupai Tribe v. Arizona Board of Regents; Mello and Wolf, 2010), highlight how contentious perceptions of ownership can become.…”

Individual DNA samples and health information sold by 23andMe

“…By contrast, holding these data in a closed proprietary database will limit the ability of other researchers and clinicians to use the information gained and may not be in the best interest of affected patients or their families. 9 An international code of conduct has been proposed to facilitate genomic and clinical data sharing for biomedical research. 10 While the business press may laud a lucrative deal to sell patient samples and clinical information for proprietary research, weas genetic clinicians concerned about the appropriate use of powerful genomic technologies in patients-need to ask some serious questions.…”