Ross White

The Hastings Center

Genetic Information

Rights and Responsibilities: Finding Common Ground across Emerging Technologies and Campaigns

Abstract

The biotechnology company, Life Technologies, claims that it will be able to sequence an entire human genome by the end of this year, marking a dramatic decrease from the decade that it took for the Human Genome Project to sequence the first human genome at a cost of $3 billion dollars. As technologies allow us to increasingly sequence and analyze our genome, researchers and clinicians alike are promising a revolution of personalized medicine that will allow better diagnosis, management, and treatment of disease. Treatments are already been developed and marketed to individuals based on their unique genetic identity, with more coming down the pipeline through programs such as the NIH newly developed National Center for Advancing Translational Science (NCATS). As clinicians are being empowered to increasingly use genetic information, so too are patients being encouraged to embrace their genetic identity in order to improve their health and wellbeing. Direct-to-consumer (DTC) genetic testing, through companies such as 23andMe, now makes it possible for an individual to submit a saliva sample and in a matter of weeks receive a genetic profile complete with disease susceptibilities and unique characteristics. Patients are also being encouraged to share their genetic information online with other patients and non-clinicians in order to self-treat and manage their disease through consumer-driven research. Genetic research and understanding is moving from the office of clinicians trained to analyze and interpret genetic information into a crowd-sourced community that might be ill-equipped to understand the implications of genetic information. While these advances offer great promises, they raise a number of ethical and social questions about the future of personalized medicine.

• How can we ensure effective public education about the promises and limitations of personalized medicine?
• Should consent procedures for genetic research be improved and made more robust?
• How do we better ensure the protection and privacy of genetic data and other personal health information obtained through research and clinical practice?
• Do we need stronger regulations to prevent discrimination or stigmatization based on genetic information?

A recent focus group conducted around a NOVA/PBS-The Hastings Center film, Cracking Your Genetic Code, found that viewers’ opinions on a number of issues (privacy, confidentiality, proper use of genetic tests, discrimination, etc) changed significantly following watching the film and learning more about biotechnology and bioethics. Public education will play a critical role in the further development and expansion of personalized medicine practices and technologies.

Recommendations

• Increase regulation and oversight of DTC genetic tests by FDA to require medical consultation for all tests and improve effectiveness and clinical utility studies to reduce discrepancies.
• Create new protections for genetic information to ensure that patients are informed every time that their health data is shared with a third party, including other clinicians.
• Expand public education efforts around genetic information to dispel misconceptions (including genetic determinism) and better inform them about the complexities of interpreting and understanding genetic information.

References

Corrigan, Oonagh. 2011. “Personalized Medicine in a Consumer Age” Current Pharmacogenomics & Personalized Medicine 9(3): 168-176.

“Expert Perspectives on Gene-Based Medicine.” Cracking Your Genetic Code. NOVA. http://www.pbs.org/wgbh/nova/assets/education/cracking-your-genetic-code/ExpertPerspectives.pdf

Guttmacher, McGuire, Ponder, and Stefansson. 2010. “Personalized Genomic Information: Preparing for the Future of Genetic Medicine.” Nature Reviews: Genetics

Hamburg, Margaret and Francis Collins. 2010. “The Path to Personalized Medicine.” New England Journal of Medicine. 363: 301-304. 11: 161-165.

Malik, Nafees. “Personalized Drugs Should Cut Care Costs.” Nature 485(582).

Markoff, John. “Cost of Gene Sequencing Falls, Raising Hopes for Medical Advances.” New York Times. 7 March, 2012. http://www.nytimes.com/2012/03/08/technology/cost-of-gene-sequencing-falls-raising-hopes-for-medical-advances.html?pagewanted=all

Winslow, Ron and Shirley Wang. “Soon, $1,000 Will Map Your Genes.” Wall Street Journal. 10 January, 2012. http://online.wsj.com/article/SB10001424052970204124204577151053537379354.html

Offit, Kenneth. 2011. “Personalized Medicine: New Genomics, Old Lessons.” Human Genetics 130:3-14.