-
NIH Jan 12, 2017 | R01
Precision Genomics in the WISDOM Pragmatic Clinical Trial: An Embedded ELSI Study of Risk-based Breast Cancer Screening
Institution: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
FOA Number: PA-14-276
Abstract
Using emerging genomic information to create opportunities for targeted or risk-based screening in cancer prevention and control is a critical component of President Obama's Precision Medicine Initiative. But precision genomic screening raises multiple ELSI (ethical, legal, social, and policy) concerns. The proposed embedded ELSI research project presents a unique opportunity to follow and assess the ELSI issues that accompany a pioneering randomized pragmatic clinical trial of a risk-based approach to breast cancer screening. The Athena WISDOM study is a clinical trial (n=100K) that uses genomics to determine the appropriate use of mammography, and other forms of breast cancer screening, across the population. Breast cancer is among the most feared diseases; current screening technologies raise multiple anxieties, fueled by a high rate of false positive results. Recently funded by PCORI (the Patient Centered Outcomes Research Initiative) the WISDOM trial is significant because it is the first effort to target breast cancer screening according to individual genomic risk, as opposed to population characteristics. Based on a partnership with Color Genomics, the WISDOM trial creates a personalized risk score based on mutations in nine highly penetrant cancer genes (BRCA1/2, TP53, PTEN, STK11, CDH1, ATM, PALB2, CHEK2), as well as 157 SNP variants that are associated with increased risk. The final score also incorporates standard risk assessments such as family history and breast density. The proposed ELSI investigation builds on preliminary work conducted by investigators at UCSF's Center of Excellence in ELSI Research who received a pilot award to create a multi-disciplinary research team; the team formed (a breast surgeon, an anthropologist/bioethicist, and a molecular pathologist) developed this proposal. Our collaborative project ?embeds? a comprehensive ELSI study within the Athena Breast Health Network's WISDOM study. The ELSI project has 4 specific aims. We seek to: 1) examine how ELSI concerns are addressed throughout the implementation of the WISDOM trial via ethnography and key informant interviews with stakeholders. 2) elucidate the experience and meanings of risk-based screening for trial participants and their primary care providers (PCPs) via qualitative interviews with women stratified by risk level, focus groups with PCPs, and a survey of the full trial cohort. 3) explore the consequences of receiving a positive result for one of the nine high penetrance cancer susceptibility genes via observations of genetic counseling sessions, qualitative interviews at two time points, a survey, and focus groups with WISDOM study breast health specialists. 4) convene an Ethics Working Group that offers advice to WISDOM stakeholders in real time. Research across all the aims will be guided by an overarching theme: the intersection of precision genomics and known cancer health disparities. The outcomes of this project will inform the Precision Medicine Initiative, particularly efforts to improve cancer surveillance and early detection.
FUNDING AGENCY:
Funder:
NIHInstitute:
NATIONAL CANCER INSTITUTEFunding Type:
R01Project Number:
R01CA211999Start Date:
Jan 12, 2017End Date:
Dec 31, 2021PROJECT TERMS:
Administrator, Adoption, Advocate, African American, Anxiety, Attention, Award, base, behavior measurement, behavioral outcome, Bioethics Consultants, BRCA1 gene, Breast, Breast Cancer Detection, breast density, Cancer Control, cancer health disparity, cancer prevention, Cancer-Predisposing Gene, care providers, Caring, CDH1 gene, CHEK2 gene, Clinical, clinical application, Clinical Trials, cohort, Collaborations, Color, Complement, Consent, Data, design, Development, Diagnosis, Diagnostic tests, Disease, Early Diagnosis, ethical legal social implication, Ethics, Ethnography, experience, Family, Focus Groups, Fright, Funding, Genetic Counseling, genetic counselor, genomic data, Genomic medicine, Genomics, Goals, Harm Reduction, Health, health benefit, health disparity, improved, Individual, informant, Informed Consent, Institutional Review Boards, Interdisciplinary Study, Interview, Investigation, Knowledge, Latina, legal implication, malignant breast neoplasm, Malignant Neoplasms, mammography, Measures, Methods, Molecular, mortality, Mutation, next generation sequencing, Not Hispanic or Latino, Oncogenes, operation, Outcome, Outcome Measure, Outcomes Research, Participant, Pathologist, Patient-Focused Outcomes, Penetrance, personalized screening, Policies, policy implication, Politics, Population, population based, Population Characteristics, population health, Population Heterogeneity, Pragmatic clinical trial, Precision Medicine Initiative, preference, Procedures, psychological outcomes, PTEN gene, Qualitative Methods, Randomized, randomized trial, Recommendation, Recording of previous events, recruit, Research, Research Institute, Research Personnel, Research Project Grants, Risk, Risk Assessment, Saliva, Sampling, Scientist, screening, Services, social, social implication, Social Policies, Specialist, standard of care, STK11 gene, Surgeon, Surveys, Technology, Testing, Time, TP53 gene, Translation Process, Translations, trial comparing, Universities, Variant, Woman, Work, working group
Skip to main content
