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Collins and Varmus Outline Potential of Precision Medicine Initiative in NEJM Perspective

NEW YORK (GenomeWeb) – Following President Obama's proposed $215 million Precision Medicine Initiative last week, the heads of the National Institutes of Health and the National Cancer Institute weighed in on how it might be implemented.

In a Perspective in The New England Journal of Medicine published on Friday, NIH Director Francis Collins and NCI Director Harold Varmus outlined what the initiative might be able to achieve.

As a concept, precision medicine is not new, they said – blood typing has been used for more than 100 years to stratify patients, for example.

The new initiative has two main parts, a near-term one that will focus on cancer and a longer-term one that will concentrate on other types of disease. "Both components are now within our reach because of advances in basic research, including molecular biology, genomics, and bioinformatics," they wrote.

In oncology, knowledge about molecular lesions in tumors has already influenced risk assessment, cancer diagnosis, and treatment, in particular through targeted therapies and new immunological approaches. To build on this further will require the analysis of "many more" cancer genomes, clinical trials with novel designs, and "more reliable" models for preclinical testing, as well as a "cancer knowledge network" to store the information, they wrote.

Overall, the initiative will "enrich and modify, but not replace, the successful staples of oncology – prevention, diagnostics, some screening methods, and effective treatments."

With regard to other disease areas, precision medicine will most likely be applied to inherited genetic disorders and infectious diseases, though it has promise in other areas.

The broader part of the initiative will develop new ways for collecting and analyzing "a wide range of biomedical information." Future applications could include, for example, measuring "hundreds of distinct types of immune cells" in the blood; real-time monitoring of glucose, blood pressure, and heart rhythm; genotyping to detect protective variants; fecal sampling to identify microbes involved in obesity; or early detection of cancer through blood tests.

While initial pilot studies will take advantage of existing studies and trials, the ultimate goal is to assemble a longitudinal cohort of at least 1 million US participants willing to contribute to research. They will be studied in great detail, including "cell populations, metabolites, RNA, and DNA – including whole-genome sequencing, when costs permit" as well as behavior, and their data will be linked to electronic medical records.

The research will leverage existing cohorts that have already collected data and will involve "strong partnerships among existing cohorts, patient groups, and the private sector."

Regulatory frameworks will need to be adjusted. The NIH is already working with the Department of Health and Human Services "to bring the Common Rule, a decades-old rule originally designed to protect research participants, more in line with participants' desire to be active partners in modern science," the authors noted, and the Food and Drug Administration will make sure "its oversight of genomic technology supports innovation, while ensuring that the public can be confident that the technology is safe and effective."

The greatest benefits of the new initiative, which Collins and Varmus would like to see connect with similar projects around the world, might only arrive "years down the road," they cautioned, though "there should be some notable near-term successes." In addition to cancer, benefits are expected in pharmacogenomics. Also, the study of rare protective mutations may lead to new drug targets for use in the general population, and using mobile technology may improve prevention and treatment of chronic diseases.

"Ambitious projects like this one cannot be planned entirely in advance; they should evolve in response to scientific and medical findings," they noted, and "much of the necessary methodology remains to be invented."

Finally, the financial resources required for the initiative "should not compete with support of existing programs, especially in a difficult fiscal climate," they wrote.