A Behind-the-Scenes Story of Precision Medicine

Let me start with a few words about the goals and intended audience for this introduction to republication of two reports of the U.S. National Research Council (NRC) -Mapping and Sequencing the Human Genome (1988) and Toward Precision Medicine (2011).I do not intend to summarize what the reports say.They are both short, well written, and can speak for themselves.I encourage readers who want a quick summary to read these reports the way most policy-makers do: start with the Executive Summaries, particularly the Conclusions and Recommendations.NRC committees write these summaries with great care since they are read far more widely, and by a more influential audience, than the bodies of the reports.With respect to audience, I assume this book will be of greatest interest to scientists and policy-makers interested in how the policy-making apparatus in the United States works and how it shaped two key initiatives in biology and medicine during their formative stages.A scientist myself, now retired from active research, I am the only person who served on both the Mapping and Sequencing and Precision Medicine Committees.My active research career happened to span the remarkable quarter century during which we sequenced the first human genome and learned enough about it to be ready to launch a major effort to apply this knowledge to mainstream medicine.Because of this fortuitous timing, I was able to serve as one of the most junior members of the Mapping and Sequencing Committee and one of the most senior members of the Precision Medicine Committee.What I hope to add to this republication is an insider's view of the way these committees came into existence and how they functioned.It is one scientist's view.There are many stakeholders in the science-policy process: scientists, agency administrators, Congressional staff, politicians, special interest groups, and the general public.However, a hallmark of the NRC process is that active scientists volunteer their time to participate in policy-making at a formative level.It is an exemplary process that has proven itself repeatedly across the whole range of scientific and technical issues that arise in modern economies and political systems.I think the involvement of active scientists in the initial stages of policy-making is the most important reason the system has been so successful.There are other reasons, relating to the culture of NRC deliberations: the committees are carefully selected after extensive consultation with knowledgeable advisers; they deliberately include scientists known to differ in their attitudes toward, opinions about, and experience with the subjects under study; it is a consensus process that involves extensive face-to-face discussion among people who respect each other even though they often disagree.The risk of emphasizing consensus as strongly as the NRC process does is that committees will only be able to agree on a bland set of recommendations.However, time and again, NRC committees make bold, innovative recommendations that influence subsequent developments.My hope is that the mixture of historical perspective, anecdote, and considered opinion I offer in this Introduction will