Sustainability Through Personalized Medicine: Where Health and Technology Collide. Nathaniel Lane Wade. University of Alabama at Birmingham

Transcription

1 Sustainability Through Personalized Medicine: Where Health and Technology Collide Nathaniel Lane Wade University of Alabama at Birmingham

2 Executive Summary In the ten years since the first human genome was sequenced, the cost of genomic sequencing has plummeted, and the field of personalized medicine is positioned to change the face of healthcare. Personalized medicine is the use of a patient s genomic information to form individualized prevention, diagnosis, and treatment plans to combat disease. One of the most significant emerging solutions for assuring a sustainable future is the development of personalized medicine through technological advances championed by research teams of the future. These research teams of the future will create sustainable solutions for personalized medicine through interdisciplinary collaborations with experts spanning multiple disciplines. Responsible planning along with management of technology and health policy within genomic research and medicine will be essential for the greater good of humanity.

3 Health, transportation, and technology all present a myriad of complexities which challenge our sustainable future. Responsible planning and management of technology and health policy will be essential for the greater good of humanity. Through innovative solutions and interdisciplinary collaborations, a sustainable future for our global community can be realized. One of the most significant emerging solutions for assuring a sustainable future is the development of personalized medicine through technological advances championed by research teams of the future. In 2003, the Director of the National Institutes of Health, Elias Zerhouni, M.D., released the NIH Roadmap which examined the roadblocks and challenges faced by science and medicine. Within the roadmap, possible solutions to these roadblocks were categorized into three major themes New Pathways to Discovery, Research Teams of the Future, and Reengineering the Clinical Research Enterprise (Zerhouni, 2003, p. 63). The roadmap was released nearly six months after the announcement of the successful completion of the 3 billon base pair Human Genome Project which cost taxpayers approximately $2.7 billion in FY 91 dollars (National Human Genome Research Institute, 2010). In the ten years since the first human genome was sequenced, the cost of genomic sequencing has plummeted, and the field of personalized medicine is positioned to change the face of healthcare. Personalized medicine is the use of a patient s genomic information to form an individualized healthcare plan used in the prevention, diagnosis, and treatment of disease (NHGRI, 2010). The ability to sequence a human genome for $1,000 is rapidly approaching, and this inexpensive ability raises complex issues concerning the rights and responsibilities of scientists, health care providers, policymakers, and the public (Phimister, Feero, & Guttmacher, 2012, p. 757). In addition to the

4 complex issues which arise with low-cost sequencing, challenges related to technology are also increasing. A tremendous amount of biological, clinical, and sequencing data is being produced at a significant rate due to an amplified interest in translational research and genomic medicine. The challenges of interpreting these data and translating the findings to improve healthcare (Majewski, Schwartzentruber, Lalonde, Motpetit, & Jabado, 2011, p. 586) have been multifaceted. The sheer volume of data being generated is an initial complication which snowballs into even greater technological challenges. One major question which begins to emerge regarding big data is where do we store it (electronic medical records, personal portable devices, the cloud, in ourselves)? The cost associated with the storage of big data coupled with the lack of trained professionals within the burgeoning field of bioinformatics is now considered the limiting reagent for genomic research. The unforeseen cost of interpreting, manipulating, and storing data from genomic research (Phimister, Feero, & Guttmacher, 2012, p. 757) is now preventing the use of the available genomic sequences. Besides technological challenges, personalized medicine will face an array of additional issues which should begin to be addressed sooner rather than later. Ethical, legal, governmental, psychosocial, and public policy issues will be the driving forces within the field of personalized medicine. Several groups including the Health Insurance Portability and Accountability Act (HIPPA), the Americans with Disabilities Act (ADA), and the Genetic Information Nondiscrimination Act (GINA) have attempted to be proactive in addressing some ethical issues regarding genomic advances though many issues remain unresolved (Phimister, Feero, & Guttmacher, 2012, p. 757). Regarding psychosocial and ethical issues, many factors exist within genomic research and genomic medicine including

5 direct-to-consumer testing and result interpretation, the inclusion of vulnerable populations including children and the disabled, and information regarding biological ancestry, race, and ethnicity (Green, Guyer, & NHGRI, 2011, p. 210). The legal and public policy issues for genomics span a broad spectrum and include intellectual property in genomics; insurance reimbursement for genomic services; regulation of genetic testing; regulatory and non-regulatory approaches for dealing with direct-to-consumer genetic testing; the regulation of pharmacogenomics and genomics-based therapeutics; protection against genetic discrimination and stigmatization; and uses of genomics in non-medical settings (Green, Guyer, & NHGRI, 2011, p. 210). Though many issues exist within personalized medicine, solutions to these challenges will lead to improved healthcare through the use of technology. The sustainable solutions to the problems posed within personalized medicine will be developed by research teams of the future. The Commissioner of the U.S. Food and Drug Administration, Margaret Hamburg, M.D., stated, Universities, industry, and government must join to develop the state-of-the-art regulatory science that can speed evaluation of new drugs and medical procedures and bring them more quickly to patients (Lempinen, 2010). The call for research teams of the future originated in the 2003 NIH Roadmap and the need for transdisciplinary collaboration has continued to grow and is more prevalent today than ever. The research teams of the future who will create sustainable solutions for personalized medicine include social scientists, clinicians, epidemiologists, biologists, psychologists, ethicists, and health service researchers (McBride, Alford, Reid, Larson, Baxevanis, & Brody, 2008, p. 940). Genomics has the potential to profoundly impact society, and genomic advances will not rapidly occur if disciplines work within silos. Experts within clinical medicine, genomics, and the natural sciences must work in collaboration with experts in bioethics, psychology, sociology,

6 anthropology, history, philosophy, law, economics, health services research, and related fields (Green, Guyer, & NHGRI, 2011, p. 210). The wicked problems challenging today s global community require the interdisciplinary collaboration of experts in order to generate innovative solutions which lead to a sustainable future. A great example to conclude the topic of health, transportation, and technology for a sustainable future comes from two leaders who exemplify collaboration. In 2010, the Director of the National Institutes of Health, Francis Collins, M.D., Ph.D., and the Commissioner of the U.S. Food and Drug Administration, Margaret Hamburg, M.D., partnered to articulate a seamless message for personalized medicine. They concluded their article with a quintessential illustration of the development of personalized medicine for a sustainable future. The example is as follows: When the federal government created the national highway system, it did not tell people where to drive it built the roads and set the standards for safety. Those investments supported a revolution in transportation, commerce, and personal mobility. We are now building a national highway system for personalized medicine, with substantial investments in infrastructure and standards. We look forward to doctors and patients navigating these roads to better outcomes and better health. (Hamburg, M. & Collins, F., 2010, p. 304). Public administrators have an important role to play as members within the research teams of the future, and the involvement of public administration in personalized medicine will be essential for a sustainable future.

7 Works Cited Green, E., Guyer, M., & National Human Genome Research Institute. (2011). Charting a course for genomic medicine from base pairs to bedside. Nature, 470(7333), Hamburg, M. & Collins, F. (2010) The Path to Personalized Medicine. New England Journal of Medicine, 363(4), Lempinen, E. (2010, June 11). FDA Commissioner Margaret Hamburg Details Regulatory Science for 21 st Century Medicine. Retrieved from Majewski, J., Schwartzentruber, J., Lalonde, E., Motpetit, A., & Jabado, N. (2011). What can exome sequencing do for you? Journal of Medical Genetics, 48(9), McBride, C., Alford, S., Reid, R., Larson, E., Baxevanis, A., & Brody, L. (2008). Putting science over supposition in the arena of personalized genomics. Nature Genetics, 40(8), National Human Genome Research Institute (2010). The Human Genome Project Completion: Frequently Asked Questions. Retrieved September 18, 2012 from Phimister, E., Feero, W., & Guttmacher, A. (2012). Realizing Genomic Medicine. New England Journal of Medicine, 366(8), Zerhouni, E. (2003). Policy Forum: The NIH Roadmap. Science, 302(5642),