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AHA Recommends Greater Oversight, Resources for Genetic Testing

NEW YORK (GenomeWeb News) – The American Heart Association sees genetic testing as offering powerful new possibilities for cardiovascular medicine, but it also believes that greater federal oversight and resources are needed to ensure that genetics are integrated into clinical care safely and securely, it said in a policy paper published in the journal Circulation yesterday.

Among a number of policy recommendations proposed by an AHA-assembled panel of experts was that the US Food and Drug Administration should take on oversight of genetic tests. It also calls for expansion of the Genetic Information Nondiscrimination Act of 2008, enhanced availability of genetic counseling, wider reimbursement for families affected by genetic diseases, and boosted funding for research into clinical genetics.

"Genetic testing provides a tremendous opportunity but also a challenge in being responsible with that information," Euan Ashley, chair of the AHA policy statement writing group and assistant professor and director of the Center for Inherited Cardiovascular Disease at Stanford University School of Medicine, said in a statement. "If the information is available, how best do we use it to really improve care for individual patients?"

The policy proposals were developed by a panel that included geneticists, physicians, nurses, genetic counselors, and other medical professionals who analyzed a number of genetic testing-related issues over a two-year period.

The AHA group recommended that all genetic tests, including lab-developed tests, should undergo an independent review process to confirm their analytic and clinical validity, a proposal that is consistent with a Secretary's Advisory Committee on Genetics, Health, and Society report from 2008.

"Because of the moderate-to-high complexity of many newer tests and their interpretation, testing requires the regulatory oversight by an authority capable of fully evaluating both the analytic validity and especially the clinical validity" of genetic tests on the market, the policy authors wrote. That authority should be FDA, the AHA maintains, "because it has the clear statutory authority, scientific expertise, and experience in regulating genetic tests," and the agency should be given appropriate resources to fulfill that mission, the group said.

The authors also said that the argument for gene patents "fundamentally rests on the notion that isolated DNA is distinct from its existence in nature." They dispute that suggestion, stating that "as scientists we do not believe the breaking of covalent bonds that occurs in the isolation of DNA to read sequence" is enough of a manipulation to demonstrate that it is a novel, and thereby patentable, function. They argue that further patenting of DNA sequences should not be approved in cases in which the invention is merely the "observation of functionally unaltered human DNA."

On the GINA law, the AHA recommends that the law be expanded to ensure that genetic and family history information will not be used to affect life insurance underwriting and that protections be put in place covering long-term care insurance and disability as well.

The AHA also said it "strongly" recommends that physicians and centers with expertise in cardiovascular disease genetics be involved in developing policies guiding clinical genetic testing, such as when these tests are appropriate and how their results should be interpreted.

Because of the increasing availability of genetic tests for mendelian cardiovascular diseases, the AHA report states that it is "imperative" that there be sufficient funding into CVD genetics at the National Institutes of Health and other agencies. This funding would support research to discover new genes, to improve the assessment of the pathogenicity of variants, to refine the correlations between genotype and phenotype, and to develop insights into the disease pathogenesis necessary to transform the clinical management of CVD.

Because pharmacogenomic tests, such as those linked to clopidogrel and warfarin, are expected to continue to offer new applications to cardiovascular diseases, AHA recommends that a consensus on such tests and their relevance to their paired drugs should be necessary before a clinical action is taken based on genotype.

"This will require input from multiple stakeholders, including professional societies, the FDA, the Pharmacogenomics Research Network, pharmacy benefits payers (including the [Centers for Medicare and Medicaid Services]), and patients," the report recommends.

Because of the potential complexities genetic tests pose to payers as they assess clinical utility, AHA proposes that CMS "should adopt a transparent, consistent, and evidence-based process for coverage, coding , billing, and payment of genetic tests under established benefits for testing."

The authors further suggest that CMS' processes in this area should support patient access to "accurate, reliable, and timely genomic testing, ensure continued investment and innovation in genetic and genomic technologies," and reward value, take scientific advances into account, and incentivize payers to use these tests.

The AHA also recommends the government make "a large investment in an infrastructure to catalog human genetic variation," an effort that would pay off by "leveraging the significant investment of many funding bodies in generating the disease-association data."

In closing, the AHA authors said that the "rapid pace of advancement offers great promise in its potential to transform patient care," and that polices and will need to be adapted to catch up with those advances. "We have laid out a framework to guide policy makers in the way we believe will best support our patients, as well as the scientists and physicians focused on cardiovascular health around the world."

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