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

NIH Expands Network Focused On How Genes Affect Drug Responses

The National Institutes of Health plans to spend $161.3 million over the next five years to expand the Pharmacogenomics Research Network (PGRN), a nationwide collaborative of scientists focused on understanding how genes affect a person’s response to medicines.

“Thanks to breakthroughs in genome sequencing technologies and our growing understanding of genetic variation among individuals, there has never been a better time to propel the field of pharmacogenomics,” said NIH Director Francis S. Collins, M.D., Ph.D. “Through these studies, we are moving closer to the goal of using genetic information to help prescribe the safest, most effective medicine for each patient.”

Pharmacogenetic Algorithm Accurately Predicts Warfarin Dosing

This article was written by Noelle K. LoConte, M.D.

Warfarin (brand name Coumadin) is one of the most commonly used anticoagulants (meaning a medication that thins the blood). It is used in a variety of medical situations, including atrial fibrillation, blood clots and when there is an increased risk of blood clotting due to genetic predisposition. When a patient is on warfarin, they need frequent blood draws to measure blood thinness and frequent dose adjustments until they have reached a stable level of blood thinning.


Gene Expression Can Predict the Survival of Lymphoma Patients

ResearchBlogging.orgA study published last week in the New England Journal of Medicine identified sets of genes in diffuse large B-cell lymphoma that influence the effectiveness of chemotherapy [1]. Researchers found that the tumor microenvironment, consisting of non-cancerous immune and structural cells along with tumor cells, has a significant influence on a patient’s response to treatment.