. Clinical genomic sequencing (CGS) produces large amounts of data, much of which is hard to characterize or may have a negligible influence on health. The concept of actionability is commonly used to help separate information that may be useful from information that is likely irrelevant for patients. Actionability directs attention to whether genomic information warrants action and reflects its initial development as a strategy to augment diagnosis and treatment in sick patients. As CGS expands towards healthy populations in primary care settings, actionability is still widely embraced despite little consensus regarding its definition and use. Because this ambiguity could become an obstacle to the successful implementation of clinical genomic sequencing in healthy populations, greater clarity about this concept is necessary. The proposed research will fulfill this need by characterizing the emergence and varied meanings of actionability in clinical genomics, focusing on clinical genomics' transition into primary care settings. By identifying underlying values and assumptions related to actionability, this research will push beyond definitional disputes and provide a deeper framework for assessing how genetic information is valued.
The specific aims are: 1. Identify and characterize, through in-depth interviews, how genomics experts and primary care providers conceptualize what makes genomic information actionable for healthy populations. 2. Identify and characterize, through a natural language processing (NLP) analysis of published literature, how the concept of actionability emerged, spread, and is used throughout clinical genomics. 3. Convene a workshop with genomics experts, primary care providers, and ELSI scholars to produce a white paper on actionability and the ethical, effective integration of CGS into primary care, guided by the results from Aims 1 and 2. This K99/R00 Pathway to Independence Award includes a highly-structured, mentored training program that will support the candidate's goal to become an independent, mixed-methods ELSI investigator focused on assessing the value of genomic information. To achieve this career goal, the candidate will: 1. Receive training in genetic and genomic science to facilitate collaboration with genomics care teams and make scientifically accurate policy recommendations 2. Build new methodological skills in biomedical informatics and natural language processing to conduct generalizable research 3. Publish and engage with scientific and medical audiences to have a more direct impact on future guidelines and policies. 4. Develop a collaborative and interdisciplinary research network. This training will include coursework, guided readings, network building, and sustained mentorship by a highly-qualified team of faculty with expertise in ELSI research, bioethics, clinical genomics, biomedical informatics, and the history and sociology of medicine. This training will prepare the candidate to transition to an independent ELSI investigator focused on ethical issues related to the actionability of genomic health information ? an ELSI research priority in Genetic and Genomic Healthcare.
. This K99/R00 Pathway to Independence Award will prepare the candidate to become an independent, mixed-methods ELSI researcher pursing a research program on ethical issues related to the actionability of genomic information. The study examines the values and assumptions underlying conceptualizations of the actionability of genomic information for healthy populations. Results of the study will contribute to the ethical and effective implementation of genomic sequencing into care for healthy populations.
