Poster Abstracts for Innovations in Genomics and Biobanking

Transcription

1 Poster Abstracts for Innovations in Genomics and Biobanking Managing Genomic Findings of Pediatric Clinical Research Studies: Challenges, Ethical Considerations and Best Practices Francesca Gould Cincinnati Children's Hospital Medical Center Submission Type: Programmatic Submission Topic: Biobanking and Genomics Research Genetic screening and testing provides a wide range of data about the current as well as future health status of not only the individual tested, but also their relatives and future offspring. The ability to sequence individual genomes is leading to identification of an increasing number of risk factors for serious diseases. Sometimes researchers uncover unexpected and surprising test results, also referred to as incidental findings, often of varying levels of significance. Knowledge of these test results not only raises a series of clinical and medical questions, but also highlights a series of complex ethical and social issues as well. New technologies and the expanding use of genetics research are causing some heated debate. It is often in question whether the researcher has a duty to inform the patient of potentially important health information that may be returned in their results. However, we wonder if the vulnerability of children participating in clinical research presents additional factors that require a more stringent review of this conflict. Research involving children raises ethical questions that are unique to this population including, but not limited to: Who will be informed of the test results? What is the threshold of suggested disclosure? Will the research require future re-consent as participants reach the age of legal majority? Should we limit the amount of information shared with the parents out of respect for the child s autonomy? Does the frequency of provider contact have an effect on the duty to return individual results? How do we structure the informed consent in regards to all of these questions? Program Description We conducted a literature review and had discussions with multiple experts in the field- including representatives from our institutional IRB, clinical nurse specialists heavily involved in genetic research, and professors of pediatrics- in order to develop some guidelines. We believe that greater clarity of current recommendations and guidelines can be a highly effective tool for the entire research community. Results: Genetic research offers both benefits and harms to our pediatric population. Consideration of their use as research participants requires that we pay respect to their collective best interests as well as individual rights. Risks and benefits have to be weighed against not only their present vulnerable dependence, but also over their future decades of life. While patients and families perceive their decisions to be independent and fully informed, overt gaps relating to their protection as research participants have been identified. As a result, we have developed an internal policy that better defines our ethical obligations as researchers to pediatric participants of genome studies. Conclusions: Our findings highlight the need for more targeted interventions as part of pediatric consent for genome sequence studies, decisional support for patients and their families, and education of our staff on the necessary protections of the participants involved in this type of research. Our preliminary observations reflect consistent opinion among stakeholders that researchers have a dutiful obligation to: modify the consent documents to better address the unique needs of this patient population (10 minimum consent elements have been identified), take additional precautions during the consent process when dealing with families of children of potentially fatal and/or progressive diseases, inform patients and their families about health implications that are significant and immediately actionable, prohibit full access to

2 these data at least until the child reaches legal age of majority, honor requests made by mature adolescents, and to hold these duties at a higher level if the GP or clinician is in frequent contact with the research participants. These collective guidelines may be useful to other institutions considering or currently conducting genomic research on children.

3 Risk, Reward and the Double-Edged Sword: Alaska Native Perspectives on Pharmacogenetic Research and Testing Jennifer Shaw; Renee Robinson, PharmD; Helene Starks, PhD, MPH; Wylie Burke, MD, PhD; Denise Dillard, PhD Southcentral Foundation Submission Type: Scientific Submission Topic: Biobanking and Genomics Research The promise of personalized medicine has broad appeal, and pharmacogenomics is the "golden child" of modern medical science. However, pharmacogenetic research and clinical testing (PGX) raise important concerns, especially in communities where past research has perpetrated harm and cultivated distrust of healthcare systems and providers. This study investigated perceptions among Alaska Native (AN) people of PGX, as well as its utility and acceptability in an Alaska Native-owned and operated health care system. Description of the Research Methods: Four focus groups held with 32 AN people in Alaska elicited views about PGX in general and for treatment of four conditions. Data were inductively analyzed for perceived risks and rewards of PGX using tenets of grounded theory and Atlas.ti 9.2. Results: Perceived risks of PGX included the potential for healthcare rationing, misuse of information, and increased stigma for AN people. Perceived rewards included the potential for decreased cost of care, improved outcomes and community development. Participants also discussed eight contingent conditions (i.e., if/then scenarios) that could mitigate potential risks and increase PGX acceptability, such as the direct involvement of AN people in PGX research and clinical care and culturally-relevant informed consent. Participants did not endorse using PGX for nicotine cessation and depression treatment as strongly as for cardiovascular disease and breast cancer. Limitations: Study findings drawn from a small sample at a single institution have limited generalizability. Males were underrepresented and thus the findings may not represent the views of AN men about PGX. Despite these limitations, these findings may be useful in population-based healthcare systems with limited resources. Conclusions: PGX is recognized as a double-edged sword, a cutting-edge science with the power to heal as well as harm. These AN study participants recognition of the dual potential of PGX tells a cautionary tale for anyone working in communities where past research and clinical practices have produced a legacy of distrust. PGX must be undertaken with respect for these histories, restorative relationship, and responsiveness to the ethical concerns and contingencies of the communities in which we work. Next Steps: Additional research on the perceived utility and acceptability of pharmacogenetic research and testing should be conducted with historically underserved populations with persistent health disparities. Future research should also examine how explanatory models of illness influence perceived utility of PGX for various conditions (e.g., addiction vs. cancer) and the associated implications for resource allocation in limited-resource healthcare systems.

4 From GWAS to Omics and Beyond: A Large Institution Expands its Expectations for Sharing Genomic Research through the Draft Genomic Data Sharing Policy Erin Luetkemeier, PhD; Rosann Wise; Alice Baileyl; Laura Lyman Rodriguez, PhD Dina Paltoo, PhD, MPH Submission Type: Programmatic Submission Topic: Other Since 2007, our policy for sharing of data obtained in Genome-Wide Association studies supported or conducted by our institution has governed the sharing of GWAS data from human participants in research supported by our institution. Our GWAS Policy established the expectation that all such data be made available, with exceptions as warranted, for secondary research uses that are consistent with research participants informed consent. Rapid advances in DNA sequencing and other high-throughput technologies as well as the dramatic decline in sequencing costs, which substantially increased the research use of these technologies, led our institution to reevaluate data sharing expectations for genomic research supported by our institution. Our draft genomic data sharing (GDS) policy updates and expands the scope of the existing GWAS Policy and maintains the principle of maximizing public benefit by facilitating broad sharing and ensuring the responsible oversight of genomic data sharing. Our institution sought comment on the draft GDS Policy in the spring of 2013, and expects this policy to be implemented in Program Description The draft GDS Policy differs from the current GWAS Policy in the following areas: Scope: The draft GDS Policy broadens the scope beyond human GWAS data to include all institution-supported research generating large-scale human and non-human data types with broad utility for the scientific community. Initially, these data types will include GWAS data and genomic, transcriptomic, or epigenomic data produced by array-based technologies, or data obtained from high-throughput sequencing technologies, as well as data pertinent to the interpretation of these data such as phenotype data, clinical information, and metadata. Data Release: Under the draft GDS Policy, the release of human data for secondary use can be deferred for up to six months after data submission, with no publication embargo upon data release; under the GWAS Policy data are released immediately, but secondary analyses are subject to a publication embargo of up to 12 months. Informed Consent: The draft GDS policy states that the Institutional Certification should confirm that the submission of data and subsequent sharing for research purposes are not inconsistent with the original informed consent, rather than consistent with as in the GWAS Policy. The revision is intended to help clarify our institution s expectations for retrospective studies in which the informed consent was silent on data sharing. Risks: In considering risks associated with submitting data to our institution-designated data repositories and the subsequent sharing of such data, the draft GDS Policy separates the consideration of risks associated with groups or populations from those of individuals and their families and adds that all risks should be considered to the extent relevant and possible, acknowledging that not all of these risks can be anticipated. Additional Information Through public notices as well as two public webinars, our institution sought comment on all aspects of the draft GDS Policy, in addition to comments on related data management topics such as the potential benefits and harms of broadly sharing genomic research data; factors that our institution should consider in assessing how to balance the benefits of broad data sharing with the protection of research participants; and models that our institution should consider to facilitate access to largescale controlled-access data, enhance data utility, and protect participant interests. The comments were posted for public access on our website after the close of the public comment period. To assist in implementation of the new Policy, our institution established an implementation working group

5 tasked with updating existing policy guidance, developing training resources and additional guidances, and conducting outreach.