By Turna Ray
Muin Khoury must have seen it coming.
About a week before the US Centers for Disease Control and Prevention announced that it was slashing funding for its Office of Public Health Genomics by 90 percent in the next fiscal year, Khoury, the center's director, published an editorial in Genetics in Medicine defending the critical role public health researchers and regulators can play in advancing genomics.
"Many have questioned the role of public health in [genomic medicine]," Khoury wrote. "After all, the mission of public health is to improve health from a population perspective and its unit of intervention is the 'population,' an approach seemingly at odds with the 'one person at a time' vision of genomic medicine. Some suggest that applications of human genomics will be made at the clinical level, not through population screening. Some have even argued that there will be very little role for genomics in public health once we know the environmental and social causes of disease."
Khoury believes that the government has a critical role to play in promoting safe and effective genomic medicine products from a public health perspective. "The public health functions provide an important basis for providing an appropriate balance between the forces of 'premature translation' (i.e., use of nonvalidated or potentially harmful genomic information in practice) versus 'lost in translation' (i.e., the endless study and evaluation of new technology with limited access across the population)," he wrote in the editorial.
Whether others responsible for prioritizing funding at the CDC agree with this view is questionable.
In its fiscal year 2012 budget request to the US Congress, CDC notes that its total request represents an 11.6 percent increase from the FY 2010 level. This boost includes $560.7 million for the Affordable Care Act Prevention and Public Health Fund. However, the report also notes that CDC's request includes $100 million in "targeted administrative savings" compared to FY 2010. OPHG appears to be one of the areas that shouldered these cuts.
CDC's FY 2012 budget request reflects a reduction of $11.5 million to OPHG's share, which would reduce the office's FY 2012 resources to around $749,000. With this shoestring budget, the office is expected to continue to "provide expertise on [genomics] issues as they arise," the CDC said in its report to Congress.
CDC attempts to justify reducing OPHG's funds, saying that the office's "genomic activities overlap with other federal agencies," and that CDC is trying to "focus the staff on the implementation of proven applications of genomics to areas of public health importance."
However, OPHG's main mission before the budgetary shortfall was to identify which genomics applications were of public health importance. Through efforts such as the Evaluation of Genomic Applications in Practice and Prevention working group and the Genomic Application in Practice and Prevention Network, OPHG spearheaded the review of available evidence on genomic medicine products and issued recommendations and guidelines on their use.
These activities made OPHG a "convener and honest broker to inform providers, the public, and policy makers whether the deployment of [genomic] technology for a particular intended use can have a net positive health impact on the population," Khoury wrote in the editorial. "Because of the potential for conﬂicts of interest among various groups, public health can serve as an unbiased convener of stakeholders."
OPHG is the second genomics-related entity under HHS to be undercut in recent months. The HHS Secretary's Advisory Committee for Genetics, Health, and Society charter was allowed to expire last year (PGx Reporter 09/29/10). Khoury, along with the heads of other genomics-focused HHS groups, was a member of SACGHS.
Speaking with PGx Reporter, Khoury would not speculate as to the reasons for why genomics programs might be on the chopping block. "I don't know if these things are coincidental or not," he said. "I know the budget is tough."
Simultaneous with the budget crunch, there is a growing sentiment among many in the life sciences field that in the decade since the sequencing of the first human genome, researchers, industry players, the government, and the media have all made unrealistic promises regarding the near-term impact of genomics on healthcare.
In the Feb. 18 issue of Science, four experts in the field of genetics and bioethics — James Evans, genetics professor at the University of North Carolina, Chapel Hill; Eric Meslin, director of Indiana University's bioethics center; Theresa Marteau, health psychology professor at Kings College, UK; and Timothy Caulfield, research chair in health law and policy at the University of Alberta, Canada — warned against overhyping the promise of the field. The article was the latest in a series of similar reflections this year by prominent genomics researchers to mark the ten-year anniversary of the Human Genome Project.
In the article, titled "Deflating the Genomic Bubble," the authors recommend that those in charge of funding reevaluate how money is allocated to focus on behavioral research. According to the authors, when it comes to personalized medicine, more important than identifying the right patient for a drug with the help of genetic tests is making sure that the patient actually takes the drug.
In a statement issued by the PHG Foundation bemoaning the defunding of OPHG, Chairman Ron Zimmern wrote that the move suggests that top-level public health officials at HHS don't get the importance of modern biomedical science. "They will consequently be ill prepared for the genomic revolution and its role in improving the health of populations across the world," Zimmern wrote.
"In making these statements we are not complacent about the fact that, to date, despite the hype, the complexities of modern biology are such that the improved health outcomes that can be directly attributed to genomic research are relatively limited – even though there are spectacular successes, such as the single-gene subsets of various common cancers, or the part played in stemming epidemics such as SARS and influenza," he noted.
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Of course, categorizing OPHG as part of the genomics hype machine would be inaccurate and undeserved. Through all its efforts, OPHG, led by Khoury, has urged for caution and more evidence before making any genomics applications broadly available to the public.
Finding the clinical evidence lacking for many genetic tests, EGAPP has on multiple occasions recommended against the use of these interventions in medical practice. Gene expression testing for breast cancer, UGT1A1 genotyping in metastatic colorectal cancer, and prognostic genomic tests for cardiovascular illnesses are some of the tests that have received unfavorable reviews from EGAPP (PGx Reporter 11/10/10).
Although in recent months there has been growing interest in direct-to-consumer genomic testing through firms like 23andMe, Khoury has consistently played the role of a hype-quasher. "The promise of genomics in the practice of medicine is great and exciting, but today the use of personal genomic tests is still not ready for prime time," Khoury said in a video address to doctors and the general public last year (PGx Reporter 08/11/10).
In that video, posted on the CDC's website, Khoury advised doctors whose patients ask about DTC genomic tests to tell them that instead of paying for these tests with limited proven utility, they would be better off with a healthier diet, exercise, and by keeping an accurate family medical history.
Despite its paltry budget, a few OPHG programs may not entirely vanish. During the 2012 fiscal year, which begins Oct. 1, 2011, OPHG plans to keep a minimum staff presence, and enlist the help of other agencies and non-governmental entities who can pick up some its projects.
Khoury told PGx Reporter that OPHG's GAPPNet program will be taken over by the non-profit Genetic Alliance. "As of a few months ago we partnered with Genetic Alliance to try to get them to do the stakeholder engagement and coordination of GAPPNet," Khoury said. "They're developing a business plan for public/private partnerships. I'm hopeful that GAPPNet will continue with or without funding from CDC because it is a collaborative venture."
OPHG leaders will discuss with the EGAPP steering committee this week about how to move forward with its activities.
"With the drastic change in funding we're taking a long and hard look at everything we've done over the last 10 years," Khoury said.
"You need public health for genomics to advance, and you'll need it even more going forward for the next ten years," he reflected. "The office will be downsized and restructured, but I'm still going to be here."
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