By the time John Sulston scribbled the first draft of the Bermuda
Principles on a whiteboard in February 1996, several genes associated
with inherited risk of cancer, including BRCA1 and BRCA2, had been
identified. Concerns that proprietary rights and secrecy would cast a
shadow over genomic science aligned with requirements for daily sharing
of DNA sequence data from high-throughput sequencing centers to motivate
open data policies. This open science norm is now spilling over to other
fields, including translational and clinical genomics.
Two decades after Bermuda, genomic variants associated with inherited cancer risk remain a battleground where open science and proprietary data practices vie for dominance. Our previous work (McGuire R01 GH008919-S1) explores the ways in which these battles are playing out in understanding cancer-gene variants. This proposal builds on that work by exploring the creation of a knowledge commons for inherited cancer variants (“cancer genomic variant commons”). We focus on inherited cancer risk in this proposal because efforts to create a cancer genomic variant commons are already underway, but incomplete. We are hopeful that our results can also inform the creation of genomic commons for other conditions. The ultimate success of any knowledge commons will hinge on the development of policies to address disincentives for sharing, as well as implementation challenges.
The overall goal of this project is to produce a foundation of empirical knowledge, on which we can build policy options to address the challenges that confront the nascent knowledge scommons concerning variants associated with inherited cancer risk. We will map those options to institutions and those with authority to act on them.
This study will be guided by an advisory committee with diverse expertise and perspectives, borrowing features of expert committee-based policy methods employed by Dr. Cook-Deegan when he was at the former Office of Technology Assessment (OTA) and National Academy of Sciences, Engineering and Medicine (NASEM). The empirical methods build on our experience with two related studies: “PoliSeq” (McGuire R01 HG006460) addressed the clinical integration of genomic sequencing using a modified policy Delphi process analogous to Aim 3 below, and “Building the Medical Information Commons (MIC)” (McGuire R01 HG008918) addressed issues confronted in fulfilling the aspirations of the 2011 NASEM report on Precision Medicine, here in a domain—cancer genomic variants—likely to be a harbinger of genomic medicine more generally.
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Describe data sharing structures and practices for inherited cancer-risk variants.
Formulate policy options to address the most important challenges identified in Aim 2, and map policy options to institutions and actors who can act on them.
Translate findings and options from Aims 1-3 by engaging with policy-makers and other actors.
We will employ careful historical methods, informational interviews, network analysis of publications and patents, citations to publications and patents, and other methods to produce a case study of the nascent commons that exists in cancer variant genomics, while also noting alternative frameworks on the continuum between fully public resources and proprietary data.
Using established design principles (e.g., the Institutional Analysis and Development (IAD) framework for successful commons) and principles that have emerged from our previous work, we will identify barriers and gaps in the data sharing structures and practices described in Aim 1. We will explore these and other relevant challenges through in-depth interviews with: patients, families, advocacy organizations; testing laboratories; databases, data resources; curators, annotators, variant interpreters; and genetic counselors, clinicians and researchers (professional users of the data).
We will employ a Mdified Policy Delphi process with our advisory committee members to rank the challenges identified in Aim 2 according to importance and tractability and to explore policy options to address those ranked most important and tractable. We will then map the options to institutions and actors who can act on them. (Go to Modified Policy Delphi for more info)
We will host a final meeting of our advisory committee and reach out to those institutions and actors who can implement policy options as identified in Aim 3. Target audiences are likely to include agency officials (e.g., NIH, FDA, CDC, CMS), members and staff in Congress, nongovernment organizations, and health professional and trade organizations. We will generate materials tailored to the specific needs of different audiences.