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Review of Literature Finds Hurdles Remain for Genomic Medicine

NEW YORK (GenomeWeb News) – While advances in genomic research are promising, there are still hurdles to overcome before the knowledge gained through such studies is effectively and consistently integrated into clinical practice, new research suggests.
Researchers from California-based non-profit organization RAND Corporation, the Department of Veterans Affairs in Washington, DC, and Veterans Affairs in Los Angeles reviewed dozens of studies of common, adult onset diseases to see how well genetic and genomics data are incorporated into clinical practice. Their results, published in tomorrow’s issue of the Journal of the American Medical Association, suggest there is a ways to go before the burgeoning field of genomic medicine is consistently applied to clinical practice.
“Genetic testing increasingly will be available to aid in the diagnosis, prevention and treatment of common chronic diseases, not just rare genetic diseases,” lead author Maren Scheuner, a RAND Corporation researcher, said in a statement. “What requires attention now is how we will provide these services to an increasing number of patients.”
In an effort to understand the current state of genomic medicine for common, adult-onset conditions such as heart disease, diabetes, and cancer, Scheuner and her colleagues analyzed 68 peer-reviewed research articles and reviews published between January 2000 and February 2008. Specifically, they focused on study design, patient outcomes, consumer information, genomic medicine delivery, and the barriers that remain for integrating genomic medicine into clinical practice.
Interestingly, most of the research related to genomic medicine outcomes focused on patients’ psychological well being and/or behavioral outcomes after genetic tests. In contrast, there was a dearth of data on clinical outcomes and long-term effects that the tests had on patient health, if any. Just one randomized control trial — a study of warfarin dosing with respect to genetic polymorphisms — measured a clinical outcome.
They found that although physicians and other healthcare workers are usually enthusiastic about the promise of genetics, they often do not have the time, skill, or knowledge to refer at-risk patients to specialists for genetic tests and/or consultation. The results overwhelmingly point to healthcare workers who feel under-prepared to deal with genetic and genomic data in their practice. In addition, the authors cited two studies suggesting that, in some cases, potentially useful data regarding a patient’s family history was missing from their medical charts.
Likewise, many patients are curious about their own genetics, but are uncertain about the necessity or value of various genetic tests. For instance, of the more than a dozen articles addressing consumer information needs, five found that “genetic knowledge was low, but attitudes about genetics were positive.” Many cited privacy concerns, particularly related to potential insurers or employers. An individual’s family history also played a role, but depended on his or her own experiences with relatives who were ill.
Based on the results, the authors propose an overhaul of genetic testing research and education. In particular, they call for better training and preparation for primary health care workers, better patient education, and more research on the clinical outcomes associated with genetic and genomic interventions.
“Training and educating the healthcare workforce about the role of genetics in their clinical practice and increasing the size of the genetics specialty workforce are potential solutions to barriers we identified,” Scheuner said.

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