A genetic policy statement from the American Heart Association

As we struggle with how to handle the increasing permeation of medicine by new genetic technologies and knowledge, we geneticists have often felt lonely. It is therefore nice to see a thoughtful, detailed, and broad-ranging analysis along with a set of policy recommendations from the American Heart Association (AHA).

The AHA panel, chaired by Euan Ashley of Stanford University, advocates for expansion of antidiscrimination legislation, for genetic testing and counseling to take place at specialized centers, and for an evidence-based assessment of pharmacogenomic applications before clinical actions are based on genotype. The statement provides an intelligent discussion of the role of genome-wide association study–identified risk single-nucleotide polymorphisms in clinical medicine and encourage further research before such risk factors for common disease are acted on clinically. The panel also called for a large investment in infrastructure to catalog human genetic variation as well as for genetic research in general.

Ashley states, “Genetic testing provides a tremendous opportunity but also a challenge in being responsible with that information. If the information is available, how best do we use it to really improve care for individual patients?”

The panel has done an admirable job of reflecting excitement about the potential of genetics without devolving into hype or wishful thinking; throughout the document they strongly advocate for an evidence-based approach to the incorporation of genetics into cardiology. I highly recommend its report, which can be found at: http://circ.ahajournals.org/content/early/2012/05/24/CIR.0b013e31825b07f8.citation.

—James P. Evans, Editor-in-Chief

Complex-disease risk predictions may not change with genetic data

A new statistical analysis may let the wind out of the sails of medical geneticists and physicians expecting genetic data to help guide clinical decision making for common yet complex diseases. Much of the payoff from mass genomic screening is expected by many to lie in the development of statistical algorithms that take into account the synergistic effects of genetic and environmental factors. But when a research team from the Harvard School of Public Health ran a series of simulations designed to test the power of synergistic interactions among common diseases, they found that those interactions modified disease risk by a paltry 1–3%. The research team studied three diseases for which there are known genetic and environmental factors: breast cancer, rheumatoid arthritis, and type 2 diabetes. They compared statistical models that included simulated gene–environment interactions with models that included only marginal effects—effects that contribute only small, individual, and incremental data to classifying disease risk factors. The authors conclude that teasing out those interactions, even if possible, will probably not change the advice that doctors give patients for most common diseases. However, they note that the study is relevant for only common, multifactorial disease and should not discourage research to understand the interplay between genes and the environment, which can lead to a better understanding of disease origins and improve prevention strategies. The study appeared in the American Journal of Human Genetics online on 24 May 2012 and in the 8 June 2012 print issue. —Karyn Hede, News Editor

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Genetics in Medicine is a monthly journal committed to the timely publication of:

• Original reports which enhance the knowledge and practice of medical genetics

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