JAMA Article on Genomic Medicine

The latest issue of the Journal of the American Medical Association has an interesting article by Maren Scheuner et. al. entitled "Delivery of Genomic Medicine for Common Chronic Adult Diseases". Here is a sample:

The greatest public health benefit of advances in understanding the human genome will likely occur as genomic medicine expands its focus from rare genetic disorders to inclusion of more common chronic diseases, such as coronary heart disease, stroke, diabetes mellitus, and cancer. These diseases are generally due to complex interactions between variations in multiple genes and the environment and only rarely are due to single-gene forms of the disease. With genomics discoveries relating to common chronic diseases, numerous genetic tests may emerge that hold promise for significant changes in the delivery of health care, particularly in preventive medicine and in tailoring drug treatment.

Attempts to integrate genetic/genomic knowledge of common chronic conditions into clinical practice are in the early stages, and as a result, many questions surround the current state of this translation. These questions include, what are the outcomes of genomic medicine? What is the current level of consumer understanding about genomic medicine, and what information do consumers need before they seek services? How is genomic medicine best delivered? What are the challenges and barriers to integrating genomic medicine into clinical practice? By examining studies relevant to these questions, this systematic review attempts to synthesize available information on the delivery of genomic medicine for common adult-onset conditions.

.... The most important and consistent finding from our literature review is that the primary care workforce, which will be required to be on the front lines of the integration of genomics into the regular practice of medicine, feels woefully underprepared to do so. Remediation of this deficiency should be a top priority, and more studies are needed to test models for how this can be feasibly accomplished.

A second theme we identified is that consumers have unclear and dissonant notions about the value of genetic testing for common chronic disease. In general, consumers knew little about genetics/genomics but were interested in the prospect of this technology helping to better identify diseases for which they and their family members were at increased risk. Consumers were also worried about the possible adverse consequences of genetic testing, particularly the privacy issues and discrimination in health insurance and employment. Therefore, another research need is the development and testing of interventions to promote greater understanding of genomic medicine among consumers. Such interventions may need to be tailored for the needs of specific populations.

This article touches on a number of the challenges we must meet if we hope to effectively harness the important health benefits the genetic revolution could yield.

Cheers,
Colin