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Saturday, March 3, 2012


New NIH Database Brings Clarity to Genetic Tests

Hoping to clear up confusion about the growing welter of genetic tests, the National Institutes of Health (NIH) today unveiled a new database that lists thousands of tests voluntarily submitted by companies and non-profit labs.

Genetic tests now exist for some 2500 diseases, from cystic fibrosis to APOE, which raises the risk of Alzheimer's disease. NIH created the Genetic Testing Registry for physicians, patients, and researchers after experts suggested that such a database could improve transparency about genetic tests. Run by NIH's National Center for Biotechnology Information (NCBI), the database can be searched by condition, test, gene, and lab and includes information such as whether the test sequences the entire gene for mutations or looks for specific errors. Links lead to resources like NCBI's GeneReviews, which are brief descriptions of specific inherited diseases and how to test for them.

Most genetic tests don't have to be approved by the Food and Drug Administration as long as they're performed as a lab service and not marketed as a medical device. NIH does not verify the information in the registry, but the submitter must attest that the data are accurate. "It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," said NIH Director Francis Collins in a press release timed with NIH's celebration of Rare Disease Day.

The tests listed so far cover mostly Mendelian diseases and genes that affect how people metabolize medicines. Missing are exome and whole-genome sequencing tests, mutations found in tumors, and direct-to-consumer tests, like 23andMe's genome-wide scan for disease risk markers. Those may come later, NIH says.


U.S. to Boost Alzheimer’s Research Funding by $50 Million

Feb. 7 (Bloomberg) -- The Obama administration is boosting funding for Alzheimer’s research by $50 million this year to further investigate the genetic underpinnings of the disease and test drugs that may arrest its development.

About 5.1 million Americans suffer from the condition and caseloads are expected to double by 2050, according to the U.S. Department of Health and Human Services. The cause of the degenerative condition is unknown and there is no cure.

Patient advocacy groups have intensified lobbying efforts in the last two years, arguing that federal research efforts are underfunded and the disease poses a long-term economic threat, said George Vradenburg, chairman of UsAgainstAlzheimers, a Washington nonprofit.

“If you look at it over the next 10 years, the aggregate cost is about $2 trillion -- which in fact is about the amount we’re supposed to be trying to reduce our operating deficit by,” Vradenburg said. “It is of that kind of scale.”

Medicare and Medicaid, the U.S. health programs for the elderly and the poor, spend about $130 billion combined each year treating Alzheimer’s patients, Vradenburg said.

The National Institutes of Health, the largest source of biomedical research funding in the world, expected to spend about $450 million on Alzheimer’s research this year before today’s announcement. The agency will spend about $3.1 billion on HIV/AIDS research this year and $5.8 billion on cancer.

Critical Challenge

Alzheimer’s “has quickly become one of our nation’s most critical health challenges,” Health and Human Services Secretary Kathleen Sebelius said at an event in Washington today announcing the new funding.

About half of the $50 million will be used to sequence the genomes of people with Alzheimer’s to try to identify genes and gene changes connected to the disease, said Richard Hodes, director of the National Institute of Aging in Bethesda, Maryland, the arm of NIH that directs Alzheimer’s research. The rest will be dedicated to the “most meritorious” Alzheimer’s projects at NIH’s 32 institutes, Hodes said by phone.

Vradenburg, whose wife’s mother died of Alzheimer’s, founded his organization in the fall of 2010 and has since joined with Eric Hall, president and CEO of another advocacy group, Alzheimer’s Foundation of America, to create Leaders Engaged in Alzheimer’s Disease, an umbrella organization.

The groups produced a report last May that criticized funding for the National Institute of Aging as “miniscule and declining” and called for an increase of $300 million per year, to $1.4 billion, for the office.

National Plan

President Barack Obama signed a law in January 2011 that creates a national plan to address Alzheimer’s. Vrandenburg and Hall sit on a board advising Sebelius’ department on the plan, which will be completed in May, Vrandenburg said.

Advocacy efforts for Alzheimer’s patients haven’t previously been as robust as those for cancer and AIDS patients because people with dementia often aren’t able to speak for themselves, Hall said.

Cancer, for example, “has survivors -- the people with the disease are able to raise their voice and engage,” he said. “Alzheimer’s disease is rather unique in that yes, some folks with Alzheimer’s in the early stage are able to speak. But generally they lose that ability; they’re not able to rally, if you will.”

Research breakthroughs are also driving the increased funding, Vradenburg said.

Suspect Protein

Scientists sponsored by NIH reported on Feb. 2 that for the first time they were able to track a protein associated with Alzheimer’s, called tau, as it spread through the brains of mice, destroying neurons. That and other recent developments have inspired confidence that new treatments may be found, said Francis Collins, director of the NIH.

Much of the new research may examine ways to prevent or slow the onset of Alzheimer’s, rather than treatments once it is established, Hodes said.

“The strong sense is that failure to make important in- roads to date is at least in part due to the fact treatment has been directed at established disease,” Hodes said.

Obama plans to ask for an extra $80 million for Alzheimer’s research in his fiscal 2013 budget, to be released next week, Sebelius said. Sebelius’ department also plans to spend $26 million this year for Alzheimer’s efforts unrelated to research, such as support for patient families.

By Alex Wayne

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