by Guest Blogger Wylie Burke MD, PhD.
When the Human Genome Project began in 1990, the National Center for Human Genome Research – now the National Human Genome Research Institute (NHGRI) – created a research funding program for evaluation of the ethical, legal, and social implications (ELSI) of genomics. ELSI scholars study a wide range of issues, from the responsible conduct of genomic research, to implementation and outcomes of genetic testing programs, to intellectual property challenges. But how should this research be evaluated? In particular, what impact should we expect for this kind of research? These questions are particularly challenging for those of us who work in the multidisciplinary Centers of Excellence in ELSI Research (CEERs) funded by the NHGRI, because these centers have been given a programmatic charge to consider policy-relevant questions and help to inform the policy-making process. A group of ELSI researchers, representing seven CEERs, have been deliberating these questions and recently published a paper with recommendations.
We noted, first of all, that policy-making occurs in many venues. Although discussions often focus on governmental policies, policy-making in other venues often influences genomic translation, including actions as diverse as Institutional Review Board (IRB) decisions about consent and return of results; guidelines promulgated by professional organizations; funding decisions of health insurers; and investment decisions of venture capital. In addition, policy-making in one arena may influence the need for policies in another. For example, practice guidelines influence the use of genetic testing and may in turn influence how clinical data are accessed to evaluate test outcomes, or how IRBs decide what genetic results should be returned to research participants.
How can ELSI research assist the policy-making process? We noted that both empiric and normative investigations contribute at three stages of policy-making: (1) anticipating and clarifying genome policy needs; (2) defining policy options and their associated strengths and limitation; (3) evaluating the outcome of policy actions. These stages make a cycle of policy investigation, with outcome data informing new ideas about policy needs. We argue that the ELSI research agenda should take on both a broad policy scope and a diverse collection of research questions and methods. The research will be of greatest value when it reaches policy-makers directly.
ELSI researchers routinely move beyond scientific publications to other strategies for reaching policy-makers. Many ELSI researchers serve on advisory boards at the state and federal level; others participate in processes such as guideline development. However, more efforts are needed to communicate the wealth of ELSI research to policy-makers – for example, researchers might consider creating policy briefs and seeking venues where either written or personal presentations would reach beyond academia. As a corollary, universities should recognize such efforts in the promotion process.
It is tempting to ask whether researchers should be judged on their policy impact, for example, on whether a particular study changed policy in a particular domain of genomics. Students of the policy-making process are well aware of how contingent this process can be, however. Policies are not always determined by evidence, and policy-makers may have many different trade-offs to consider in crafting a particular policy action. We believe ELSI researchers should be judged on the quality of their work and on their efforts to communicate their work effectively, rather than on whether a given policy changed.
That said, how should we judge the impact of our societal investment in ELSI research? There are a number of possible metrics, including citations of ELSI work in policy-making processes; participation of ELSI researchers in policy deliberations; and emergence of new conceptual frameworks, draft policies and rationales from ELSI research. We end our paper with a call for discussion about the relative value of different metrics and their application to the ELSI research agenda.