Abstract
The US Air Force Patient-Centered Precision Care Genomic Medicine Research Program hosted a symposium entitled ‘Changing the Health Care Paradigm‘ on 27 September 2011 in Laurel, MD, USA. The program provided a unique opportunity for subject matter experts to participate in critical discussions on the current and potential outlook for the implementation of genome-informed healthcare. The implications for patient privacy, data management and security revealed the ethical, legal and social issues faced by clinicians, patients and policy-makers. Highlights from these discussions are summarized in this article.
Genomic information is poised to revolutionize evidence-based medicine and provide patients with increasing individualized healthcare. It is clear that effective integration of genomic information into clinical care will pose a number of logistical, ethical and legal challenges. Therefore, the Patient-Centered Precision Care Genomic Medicine Research Program (PC2-Z), sponsored by the Office of the US Air Force (USAF) Surgeon General, was recently established to evaluate the clinical impact of genome-informed care and has initiated research to begin laying the foundation for the implementation of genome-informed personalized medicine. The overarching goal of PC2-Z is to collaboratively leverage a wide range of research efforts and partners in government, academia and industry in order to mitigate disruption and ease integration of genomic information into clinical workflow.
To further explore the complexities of preparing for and implementing genome-informed healthcare, the PC2-Z program conducted a 1-day symposium at the Johns Hopkins University/Applied Physics Laboratory and Warfare Analysis Laboratory (WAL) on 27 September 2011. The symposium, ‘Changing the Health Care Paradigm,‘ provided a unique opportunity for subject matter experts to participate in critical discussions by using a ‘life-cycle‘ scenario to illuminate challenges faced by clinicians, patients and policy-makers related to the implementation of genome-informed healthcare. Attendees included experts from the clinical, research, ethical, legal, policy, genetic counseling, education, laboratory and bioinformatics communities (Box 1).
Lt Gen (Dr) Bruce Green, US Air Force Surgeon General, provided the opening remarks by acknowledging that genome-informed medicine will become a critical component of state-of-the-art healthcare systems. Gen Green further discussed the need for the Air Force to be prepared to incorporate evidence-based, genome-informed patient information into the workflow of the Air Force Medical Service. Maj (Dr) Cecili Sessions then provided an overview of the PC2-Z program to include the long-term vision. Mr Joseph McInerney, from the National Coalition for Health Professionals Education in Genetics, facilitated discussion for the remainder of the day using the scenario-based modules.
The symposium was designed for participants to actively engage and exchange ideas using realistic life-event scenarios to stimulate discussion and extract insight from participants. Four event-based modules in the life-cycle of a fictitious character were created to provoke thoughtful discussion on genomic medicine issues. Symposium participants were encouraged to provide comments and feedback through facilitated discussion, as well as via the electronic WAL Groupware System. Comments were captured electronically and summarized. Participants were also asked several questions at the end of each module using the WAL Groupware System and ThinkTank™ software.
General outcomes & themes
The discussions and survey results highlighted many exciting areas where genomic information has the potential to revolutionize healthcare. Overall, it was clear that participants agreed more research and clinical studies are needed to better understand the clinical relevance and complex associations between genetic variants, medical and family histories, and environmental exposure conditions in order to fully realize the power of genomic data in evidence-based care. It was noted that the USAF and sister services are well positioned to perform such studies due to the availability and consistency in the medical coverage and healthcare records for individuals and beneficiaries in the Military Health System. In general, discussion was focused on the following key issues.
▪ Who ‘owns‘ patient genetic information?
Participants overwhelmingly agreed that the individual (patient) owns their genetic data. This would be the case regardless of whether the initial or subsequent genetic testing is obtained through a clinician ordering a test, or an individual using a direct-to-consumer (DTC) company. It was generally felt that in a military setting, where the Genetic Information Nondiscrimination Act does not apply standard eligibility criteria for genomic variant exclusions could be established for certain USAF assignments, as long as criteria were consistent for all airmen. Further, if criteria were to be established, then the USAF should provide new genomic testing and counseling to all service members, regardless of past genetic testing (DTC or other) an individual may have had.
▪ Where should genomic information be stored?
There was general consensus that genomic information will likely be stored in multiple places over the lifetime of an individual in a ‘personal health record‘. Several caveats were highlighted with regard to content and the nature of the record including: patient privacy and consent to use the information and storage of only annotated, disease-specific clinically actionable tests results as opposed to storage of all genome-sequence data that may be clinically actionable in the future. It was agreed that there will be profound challenges with regard to the storage and security of the deluge of data that genomic medicine will most certainly generate. Allowing for the separate storage of deidentified data for scientific and clinical research in a ‘data warehouse‘ was also discussed.
▪ Who should be allowed access to the data?
Most participants felt that the individual/patient should have “ownership” of their non-deidentified genomic information, as an extension of their medical record. It was agreed that the information shared with the USAF could be an extension of information needed for evaluation and assessment for assignment, but that guidelines for sharing information need to be developed.
▪ Who is responsible for updating a patient‘s risk assessment as new genomic information becomes available?
The general consensus of the group was that an expert third party group or oversight board would update genomic marker clinical validity and utility, and that standards should be in place for this both internal and external to the military. Some felt that the responsibility to reinterpret existing sequence data will likely be a service provided independently of a specific physician or counselor.
The future of genome-informed medicine
At the conclusion of the symposium, participants were asked to comment on what they believed genomic medicine would look like in 15 years ‘in a perfect world‘. Many participants felt genomic medicine would be more fully integrated into the healthcare system and would, thus, provide truly personalized healthcare. Several participants expressed the belief that ultimately a full genome sequence would be generated shortly after birth as a standard of care and deposited in a secure data warehouse. A national committee would be in place to review and set actionable genetic variants to be forwarded to electronic medical records. These variants and new markers would be continuously reviewed in light of new research, and alerts could be generated to signal changes and updates. Participants also felt that information would be used to personalize pharmacogenomics (i.e., predict who is at risk for harmful side effects and personalize dosing regimens) and tailor personalized treatment, monitoring and preventive healthcare plans. Additional thoughts included the likelihood that sequencing of tumor cells in an oncology setting will allow individualized targeted therapies.
Conclusion
In summary, the outcomes from this symposium are being used to advise and influence the way forward for the PC2-Z program. Following are a list of high-level conclusions that encapsulate major discussion points from the event:
▪ A multitude of questions and issues remain to be resolved to effectively and efficiently incorporate genomic information into existing healthcare systems, including the Air Force Medical Service;
▪ Many ideas and/or options exist for educating the healthcare community and the general public. However, little effort to provide this education has been actively implemented;
▪ It remains unclear where personal genomic data should be stored, and how it should be managed and kept secure. Consideration should be given to storing genome-based information in a secure and standardized data ‘warehouse‘;
▪ The USAF is in a good position to conduct studies that may provide valuable data to ultimately support clinical implementation;
▪ Genomic-related initiatives will need to be flexible and have the capability to adapt to evolving science and technology;
▪ Information should be used for improving patient outcomes, prevention and directed treatments;
▪ Genomic medicine should be fully integrated into medical care, and be affordable and accessible to the healthcare team, as well as the patient;
▪ Complete genomic screening of newborns and risk assessments will likely become standard;
▪ Actionable variants (possibly determined by a national committee) will need to be integrated into electronic medical records using decision-support software for clinicians. Actionable variants will also need to be updated regularly as new information emerges;
▪ Clinicians will need to supplement a person‘s genomic information with relevant ancillary information, such as medications, diet and behaviors to develop a strategy for health maintenance (or attainment);
▪ Ongoing clinical trials from biorepository specimens will be needed to generate new data;
▪ The insurance community could view genomic information as part of preventive care similar to annual physicals.
▪ Chris Bradburne, PhD (Johns Hopkins University/Applied Physics Laboratory [JHU/APL], MD, USA)
▪ Judith Britz, PhD (Maryland Biotechnology Ctr, MD, USA)
▪ Patty Brown, JD (Johns Hopkins HealthCare LLC, MD, USA)
▪ Roger Brown (Cincinnati Life Ins. Co., OH, USA)
▪ Lt Col Janet Brumley (US Air Force [USAF], TX, USA)
▪ Dean Calcagni, MD (JHU/APL)
▪ Kathleen Calzone, MSN, RN, PhD (National Cancer Institute, MD, USA)
▪ Michael Christman, PhD (Coriell Institute for Medical Research, NJ, USA)
▪ Lucy Carruth, PhD (JHU/APL)
▪ Mary Cooke, MS (Johns Hopkins HealthCare LLC)
▪ Donna Cryer, JD (CryerHealth, Washington, DC, USA)
▪ Brian Feighner, MD, MPH (JHU/APL)
▪ Michael Feolo, PhD (NIH, MD, USA)
▪ Neda Gharani, PhD (Coriell Institute for Medical Research)
▪ Geoffrey Ginsburg, MD (Duke University, NC, USA)
▪ Col Katrina Glavan-Heise (USAF)
▪ Eugene Golanov, MD (Telemedicine &Advanced Technology Research Center, MD, USA)
▪ Lt Gen Bruce Green, MD (USAF Surgeon General, Washington, DC, USA)
▪ Alberto Guiterrez, PhD (US FDA, MD, USA)
▪ Erin Hahn, JD (JHU/APL)
▪ Elise Heon, MD (Hospital for Sick Children, ON, Canada)
▪ Maj Heather Halvorson, MD (USAF, VA, USA)
▪ Cheryl Hoffman, PhD (Representative Slaughter‘s Office, Washington, DC, USA)
▪ Jean Jenkins, PhD (NIH)
▪ David Kaufman, PhD (Johns Hopkins Medical Institutions, MD, USA)
▪ Courtney Kronenthal, PhD (Coriell Institute for Medical Research)
▪ Howard Levy, MD, PhD (Johns Hopkins Medical Institutions)
▪ Jeffrey Lin, MS (JHU/APL)
▪ Kim London (Air Force Research Laboratory Wright-Patterson Air Force Base, OH, USA)
▪ Charles Macri, MD (George Washington University, Washington, DC, USA)
▪ Scott McGill, MBA (Coriell Institute for Medical Research)
▪ Ron Miller, PhD (IMS Gov Solutions, VA, USA)
▪ Col Robert Mott, MC (US Army Office of Surgeon General, VA, USA)
▪ Paul Nisson, PhD (Telemedicine & Advanced Technology Research Center)
▪ Timothy O‘Leary, MD (Veteran‘s Health Affairs, Washington, DC, USA)
▪ Victoria Pratt, PhD (Quest Diagnostics, VA, USA)
▪ Erin Ramos, PhD (National Human Genome Research Institute, MD, USA)
▪ John Reed, MD (Sanford-Burnhan Medical Research Institute, CA, USA)
▪ Col Patricia Reilly, PhD (USAF)
▪ Maren Scheuner, MD (Greater Los Angeles Healthcare System, CA, USA)
▪ Maj Cecili Sessions, MD, MPH (USAF)
▪ Alan Shuldiner, MD (University of Maryland, MD, USA)
▪ Col David Stanczyk, DDS (USAF)
▪ Tamara Stuchlak, MPH (Evolvent Technologies Inc, VA, USA)
▪ Barry Thompson, MD (American College of Medical Genetics, MD, USA)
▪ Timothy Triche, MD (Los Angeles Childrens‘ Hospital, CA, USA)
▪ Lt Col Daniel Wattendorf, MD (USAF)
▪ Lt Col Kevin Wright (USAF, OK, USA)
Financial & competing interests disclosure
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.