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.

Genetic Signatures that Distinguish Cancer and Non-cancer Patients

A group of researchers led by scientists from the Virginia Bioinformatics Institute (VBI) at Virginia Tech have developed a new technology that detects distinct genetic changes differentiating cancer patients from healthy individuals [1]. The technology is described in a recent study published in the journal Genes, Chromosomes and Cancer and may one day serve as the basis for a cancer predisposition test.

IU Announces Plans for a Personalized Medicine Institute

Earlier this month, Indiana University announced a major commitment to research in one of healthcare’s most promising fields, personalized medicine. The Indiana Institute for Personalized Medicine will pursue genome-based and pharmacogenomics studies in cardiology, pediatrics, obstetrics and cancer, as well as other areas [1]. The emergence of personalized medicine, which targets individualized treatment and care based on personal and genetic variation, is creating a thriving market. Indeed, the market for personalized medicine in the United States is $232 billion and is projected to grow 11% annually [2].

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

Crizotinib: Another Step Towards Personalized Cancer Care

Tyrosine kinases are signaling molecules that are frequently mutated as cells become tumorigenic. One of their responsibilities is regulating a cell’s growth based on the extracellular signals they receive. The presence of extracellular growth factors tells them to induce the cell to grow more rapidly, while a lack of oxygen or nutrients tells them to grow more slowly. When these kinases are mutated they make the cell grow uncontrollably, divorcing growth from the conditions outside the cell. In some cases, this mutation is what makes a cell cancerous.