The Strategic Plan: An Interview with NHGRI Director Eric Green

In January, we reported on the National Human Genome Research Institute (NHGRI) Vision to Move Genomic Medicine from Base Pairs to Bedside. Written by Eric D. Green, M.D., Ph.D., Director of the NHGRI, Mark Guyer, Ph.D., Director of the Division of Extramural Research and Acting Deputy Director of the NHGRI, and others at the NHGRI, the plan maps the next steps the field of genomic research must take to discover medical secrets hidden within the human genome and transfer them to physicians and patients [1].

Interestingly, the strategic plan really isn’t a strategic plan but a list of issues to be addressed. And on this note, Daniel MacArthur, a genomics researcher and author of Wired’s Genetic Future, found the NHGRI document frustrating to read [2]:

… this is an impressive, worthwhile and highly readable piece of work, but one that ultimately feels unfinished. As research dollars begin to get tighter, there is an urgent need for an actual strategic plan for building the resources and tools required to make genomic medicine a reality within a realistic budget.

In other words: a specific NHGRI funding plan to overcome the issues. This could prove difficult in the current U.S. fiscal environment. Even though President Obama has resisted cuts to biomedical research funding in his 2012 budget proposal, the outlook isn’t bright. Decreasing NIH funding for short-range budget goals will disrupt five-year-long longitudinal studies make it impossible to start new research [3]. Moreover, it will hurt U.S. standing as the world leader in biomedical advances.

NHGRI Vision to Move Genomic Medicine from Base Pairs to Bedside

A new strategic plan from an arm of the National Institutes of Health envisions scientists being able to identify genetic bases of most single-gene disorders and gaining new insights into multi-gene disorders in the next decade. This should lead to more accurate diagnoses, new drug targets and the development of practical treatments for many who today lack therapeutic options, according to the plan from the National Human Genome Research Institute (NHGRI).

Base pairs to bedside

1000 Genomes Project Publishes Analysis of Completed Pilot Phase

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. Recently in the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.

NIH to Hold Conference on Family History

People who have family members with certain diseases are more likely to develop those diseases themselves. Indeed, many common disorders, including cancer, diabetes, heart disease and stroke, have genetic, environmental, behavioral and lifestyle causes that are shared between family members and together contribute to an individual’s risk for developing disease.

A family health history is a written or graphic record of these factors and includes information on diseases and health conditions of biological relatives, the age at diagnosis, and the age and cause of death of deceased family members. Family health history information collected from patients has long been used by healthcare providers in the U.S. as a risk assessment tool, and has gained renewed attention with efforts in personalized medicine. Americans recognize the importance of family history to health. A recent survey found an overwhelming 96% of respondents believe their family history is important for their own health; nevertheless, only 30% have actively collected health information from their relatives to develop a family history [1].

Despite the widespread and longstanding use of family health history, important questions regarding the effectiveness of family history information for disease prediction and improvement of health outcomes remain.

Francis Collins Nominated to Head NIH

Last week, President Barack Obama nominated physician and geneticist Francis Collins as the next Director of the National Institutes of Health (NIH) [1]. From 1993 — 2008, Dr. Collins was the first Director of the NIH’s National Human Genome Research Institute (NHGRI). He led the U.S. government’s Human Genome Project, which decoded the DNA sequence of 20,000 — 25,000 genes.

francis-collins

In the past, Collins’ research laboratory at the University of Michigan has identified a number of important genes, including those responsible for neurofibromatosis, cystic fibrosis, Huntington’s disease and genes for adult onset (type 2) diabetes. More recently, Collins has been a proponent of personalized medicine or genomic medicine, which leverages specific genetic knowledge for the delivery of effective healthcare. Medscape interviewed him about genomic research and personalized medicine two years ago, where he said that incorporating individualized medicine into the mainstream will necessitate a change in healthcare economics. As NIH Director he will undoubtedly have a voice in the ongoing healthcare reform debate in Washington.

In his announcement on Wednesday, President Obama said [1]:

The National Institutes of Health stands as a model when it comes to science and research. My administration is committed to promoting scientific integrity and pioneering scientific research and I am confident that Dr. Francis Collins will lead the NIH to achieve these goals. Dr. Collins is one of the top scientists in the world, and his groundbreaking work has changed the very ways we consider our health and examine disease. I look forward to working with him in the months and years ahead.