Precision Medicine Initiative proposed by President Barack Obama last week would focus on a huge new biobank medical records and genetic information to perhaps one million Americans. It would not be created from scratch by signing up new volunteers, however, but would rather bring together existing studies into a gigantic database.
who according to several scientists familiar with the broad outlines of the project who spoke on background with science Insider. The biobank would be used for studies ranging from research of new combinations of genetic diseases to work out how to use genomic molecular and other information in routine medical care. On Friday, the White House should reveal the details of the initiative, which would have cost hundreds of millions of dollars.
Such a national biobank would put the US in line with other countries such as the United Kingdom, Iceland and Japan, which built large population databases for research and care medical. A biobank similar US has long been on the list of National Institutes of Health (NIH) Director Francis Collins, who led the Human Genome sequencing effort as director of the National Institute for Research on the human genome (NHGRI).
The term "precision medicine", however, is relatively new. It comes from a 2011 report of the National Research Council National Academies of Canada (NRC) that called for combining medical records and molecular genetic data and other for large groups of people in a single "network knowledge "that would be used for understanding the disease and adapt treatment.
Keith Yamamoto, a member of the NRC panel and vice chancellor of research at the University of California, San Francisco, insists that the accuracy of medicine is not just a new buzzword to "personalized medicine". instead, it is a much larger company, as it would integrate a wide range of biological data, such model organisms. Researchers and clinicians base could draw on the network, he said. "It is a giant integration mill from which things would fall to the bottom than new knowledge," says Yamamoto, who conferred witht the White House Office of Science Policy and Technology on the subject.
As a pilot project, NRC has suggested building a large research database with medical and genetic data of 1 million adults. This seems to be reflected in precision medicine initiative. The plan is to link the cohort studies NIH-sponsored and existing large biobanks created by health care providers. They can range from the Heart celebrates Study 67 years Framingham, Massachusetts, funded by the National Heart, Lung, and Blood Institute (NHLBI) construction ongoing research databases by the Marshfield Clinic in Wisconsin and Kaiser Permanente in San Francisco that are linking genetic data with health records.
Some wondered if it is possible to combine medical records from different sources for research data are often missing or collected in different ways. "There is a lot of blurring," said the researcher of heart disease Dan Roden, who heads BioVu biobanking of Vanderbilt University in Nashville. But a project funded by the NIH called Emerge combining the medical records of Vanderbilt and eight medical centers showed that "this can be done," said Roden.
questions machine for megabiobank is that cohorts included, says human geneticist David Goldstein of Columbia University, a member NRC panel 2011. for example, "you absolutely must have recontactability" or permission of patients to be called and asked to come to a clinic for further examinations and tests. Some biobanks, such as Vanderbilt, not the consent of the participants, Roden note.
Assemble a representative cohort of the diversity of the population of the United States will also be important. For this reason, one of the largest US-planned biobanks Veterans Affairs Million Veteran Program not-would not be enough, because it is mostly men.
Another question is whether the whole genome sequence of participants, or only 1% that encode proteins, which would be less costly. Researchers also need to find ways to share genomic data securely, maybe shoot the efforts to develop standards.
In addition to the creation of the biobank will be questions about how useful it will be. Many feel the promise of genomic medicine has not yet been realized. A search for underlying major diseases common mutations found that most of these variants raise the risk only slightly and are of little use to predict whether an individual will develop a disease. Pharmacogenomics, or using genetic variants to determine how a patient will respond to a particular drug, has been so successful joint test has not improved assay for the anticoagulant warfarin, for example.
So far, the clearest success in genomic medicine is to find genes underlying rare diseases and for the treatment of cancer patients whose tumors can sometimes be genetically tested to find defects that suggest a specific drug. For this reason, the United Kingdom has chosen to focus on cancer and rare diseases with a project that sequenced the genomes of 100,000 patients for medical care.
But Goldstein thinks for some diseases, such as disease and epilepsy, genetics of Lou Gehrig will ultimately pay. Roden and points to a new wave of studies that find rare mutations that increase more dramatically or lower risk. For example, the discovery of rare variants in a gene called PCSK9 that regulates cholesterol led to a new class of potential drugs for lowering cholesterol.
To study these extremely rare mutations requires "a very large denominator", or a large number of subjects, said Roden.
Congress, which seems to date in favor of the initiative of precision medicine, will have to approve the proposed financing in the president's budget proposal next week for 2016 fiscal year, which begins in October. it is not known how much will be "new" money and how much is reprogrammed or offset programs existing. it is unclear how the funding will go to specific institutes such as the National cancer Institute
Yet NIH seems ready to move forward :. NHGRI and NHLBI hold a meeting 2 weeks from now about how to build a large US cohort study.
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