Oncologists Have Mixed Attitudes on the Use of Genomic Testing

Predictive genomic testing has the potential to usher in an era of personalized cancer care for patients. However, a recent study finds that not all physicians are eager to embrace the technology.

Cancer genomic testing

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 Announces Genetic Testing Registry

The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.

Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap.

The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. As such, the registry will have several key functions:

  • Encourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests
  • Provide an information resource for the public, including researchers, health care providers and patients, to locate laboratories that offer particular tests
  • Facilitate genomic data-sharing for research and new scientific discoveries

NIH Director Francis S. Collins, M.D., Ph.D., said:

The need for this database reflects how far we have come in the last 10 years. The registry will help consumers and health care providers determine the best options for genetic testing, which is becoming more and more common and accessible. Our combined expertise in biomedical research and managing such large databases makes NIH the ideal home for the registry.

The GTR project will be overseen by the NIH Office of the Director. The National Center for Biotechnology Information (NCBI), part of the National Library of Medicine at NIH, will be responsible for developing the registry, which is expected to be available in 2011. GTR genetic test data will be integrated with information in other NIH/NCBI genetic, scientific, and medical databases to facilitate the research process. This integration will allow scientists to make, more easily and effectively, the kinds of connections that ultimately lead to discoveries and scientific advances.

During the development process, NIH will engage with stakeholders — such as genetic test developers, test kit manufacturers, health care providers, patients, and researchers — for their insights on the best way to collect and display test information. In addition, other federal agencies, including the Food and Drug Administration and the Centers for Medicare and Medicaid Services, will be consulted.

More information about the Genetic Testing Registry and NCBI is available at: http://www.ncbi.nlm.nih.gov/gtr/.

Source: NIH News