From 2013-2018, the CGS had one overarching research project, GeneScreen. This project explored a wide range of ELSI issues raised by the prospect of applying a DNA sequencing technology to identify rare but clinically significant genetic variants in the general adult population.
GeneScreen emerged from recent advances in genomic sequencing technology which make it economically feasible to identify individuals who unknowingly carry rare mutations that dramatically increase their risk of developing serious but preventable diseases. Indeed, a large uncontrolled experiment in genomics at a population level already exists, propelled by for-profit companies. GeneScreen proposed to systematically anticipate and investigate the harms and benefits of applying genomics to the general adult population. Significant ELSI issues must be resolved before the promise of applying genomic technology for preventive medicine can be realized. GeneScreen combined empirical quantitative and qualitative approaches; community and stakeholder consultation; and ethical and policy analyses to address the following questions:
1. WHAT genomic targets might be most appropriate for sequencing in the general population?
CGS investigators, including genomic professionals, weighed scientific evidence to create an initial list, which is also informed by a community advisory board and interviews with potential beneficiaries. A concurrent ethnographic study documents these deliberative processes.
2. WHO in the general population would be the most appropriate for the early use of genomic sequencing?
Deliberations about who to target drew on the perspectives of clinical epidemiology and systematic literature reviews; law and social science relevant to screening in a ‘healthy’ population; frameworks from history and bioethics; and continued consultation with community advisors, clinicians and other stakeholders.
3. HOW can targeted sequencing in the general population best be implemented in practice?
Evidence was gathered through formative research and a pilot screening protocol with 1,000 individuals recruited through the General Internal Medicine Clinic at UNC Healthcare and the Kaiser Permanente Northwest Biobank, with ongoing assessments of feasibility, acceptability, benefits and harms.
4. WHAT’S NEXT?
Based on the arguments and evidence from our research, what recommendations for and against targeted genomic screening in the general population can be made? Findings are assessed in terms of implications for social justice, and ELSI aspects of prevention in the context of genomic applications. The ultimate goal is to provide clinicians, policy-makers, and the public with the evidence they will need to respond to imminent and accelerating use of robust genomic sequencing in the general population.