The American Heart Association (AHA) has issued a new policy statement on the use of genetic information in cardiovascular medicine and research, making recommendations on everything from the legality of patenting genes with significance to cardiovascular disease to the role of genetic testing and genetic-variant genotyping for cardiovascular risk prediction.
In the statement, published online May 29, 2012 in Circulation, chair of the AHA writing committee Dr Euan Ashley (Stanford University School of Medicine, CA) and colleagues state that the mapping of the human genome and the development of high-throughput methodologies have the potential to change how physicians and researchers think about genetic predispositions to disease. "This represents a great opportunity to improve human health," they write. "Yet these recent technological advances also create new moral, ethical, and legal challenges that must be addressed before the opportunities to improve human health can be fully realized."
In terms of specific recommendations, the writing group recommends that the patenting of DNA sequences no longer be approved in cases where the " 'invention' involves the observation of functionally unaltered human DNA" and calls for an expansion of the Genetic Information Nondiscrimination Act (GINA). The AHA also recommends that all genetic tests undergo independent review to confirm their analytic and clinical validity and believes the US Food and Drug Administration (FDA) should be responsible for such reviews, given its statutory authority, expertise, and experience. Genetic testing, however, should be left to the domain of experience centers.
"We strongly advocate the involvement of physicians and centers with expertise in cardiovascular genetics to guide appropriate initiation, interpretation, and implementation of genetic testing," write Ashley and colleagues. "Such experienced centers are ideally positioned to assist with difficult management decisions, including when to pursue clinical genetic testing, how to interpret results, and how results may impact management of both the patient and the family."
Regarding genetic polymorphisms that contribute to the variability of drug effects, the writing committee states there is a need for consensus on the identified pharmacogenomic effect with any given drug before clinical actions should be recommended. They cite clopidogrel and the CYP2C19 loss-of-function variants, noting that these genetic variants definitely contribute to patient outcomes, but the "implementation of a genotype-guided treatment is not straightforward." According to the AHA, there is a need for rapid, reliable genotyping and point-of-care decision support, given the impracticalities of relying of physicians to remember recommended actions on the basis of delivered genotype information.
In addition to these recommendations, the writing committee states there is a need for reimbursement codes for screening family members of those affected with genetic disease and a need for increased funding in clinical research. The group also provides guidance on the education of physicians, nurses, pharmacists, and genetic counselors and highlights the promise and challenges of future technologies.
Michael O’Rordan, HeartWire