Putting Genomic Medicine Together With Clinical Practice

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Main Category: Genetics
Also Included In: Cancer / Oncology;  Cardiovascular / Cardiology;  Public Health
Article Date: 19 Mar 2008 - 0:00 PDT

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In a recent review published in JAMA, researchers claim that although we know quite a bit about genomic medicine, it is still not being integrated into clinical practice. In a systematic review, Maren T. Scheuner, M.D., M.P.H. (RAND Corporation, Santa Monica, Calif.) and colleagues argue that genomic medicine should be a part of the risk assessment and treatment of common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer.

"The greatest public health benefit of advances in understanding the human genome will likely occur as genomic medicine expands from its focus from rare genetic disorders to inclusion of more common chronic diseases, such as coronary heart disease, stroke, diabetes mellitus, and cancer," write the authors. "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."

In this systematic review, Dr. Scheuner and colleagues examined research articles and other systematic reviews from the medical literature that were published from January 2000 to February 2008 and that focused on common, chronic, adult-onset conditions. The search resulted in 68 articles that assessed four specific areas:

1. Genomic medicine outcomes
2. Information needs of consumers
3. Genomic medicine delivery
4. Challenges and barriers to integrating genomic medicine

The researchers found that there were, "Modest positive effects on psychological outcomes such as worry and anxiety, behavioral outcomes have shown mixed results, and clinical outcomes were less well studied." One important and consistent finding from the 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."

Consumers also lack confidence and knowledge about genetic testing. They are generally concerned with privacy and the possibility of discrimination in health insurance and employment. However, consumers were interested in the genomic technology that can lead to better diagnosis and care for certain diseases - the ones for which they and their family members are at increased risk.

The authors claim that we still do not completely understand the results of interventions that use genomic medicine. "More research describing clinical outcomes is needed: do patients who receive counseling and testing have better clinical outcomes in terms of mortality, decreases in incidence of disease, and better clinical responses to pharmaceuticals? And at what cost?"

Along with the noted unpreparedness of the primary care workforce, there are several other barriers to integrating genomic medicine with the traditional methods for treating and preventing common chronic diseases. "The most prominent of these include health professionals' lack of basic knowledge about genetics and their lack of confidence in interpreting familial patterns of disease, which limits their ability to appropriately counsel their patients, order and accurately interpret genetic tests, and refer their patients for genetics consultation."

"It will be a lost opportunity if the health services research components of genomic medicine fail to keep pace with the rapid basic science advances and clinical discoveries," conclude the authors.

Delivery of Genomic Medicine for Common Chronic Adult Diseases
Maren T. Scheuner, MD, MPH; Pauline Sieverding, MPA, JD, PhD; Paul G. Shekelle, MD, PhD
JAMA (2008). 299[11]:1320-13334.
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Written by: Peter M Crosta
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