Delivery of Genomic Medicine for Common Chronic Adult Diseases
A Systematic Review
Maren T. Scheuner, Pauline Sieverding, Paul G. Shekelle
JAMA, March 19, 2008—Vol 299, No. 11 American Medical Association
PDF file at: http://jama.ama-assn.org/cgi/reprint/299/11/1320.pdf
Context The greatest public health benefit of advances in understanding the human genome may be realized for common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation.
Objective To synthesize current information on genetic health services for common adult-onset conditions by examining studies that have addressed the outcomes, consumer information needs, delivery, and challenges in integrating these services.
Data Sources MEDLINE articles published between January 2000 and February 2008.
Study Selection Original research articles and systematic reviews dealing with common chronic adult-onset conditions were reviewed. A total of 3371 citations were reviewed, 170 articles retrieved, and 68 articles included in the analysis.
Data Extraction Data were independently extracted by one reviewer and checked by another with disagreement resolved by consensus. Variables assessed included study design and 4 key areas: outcomes of genomic medicine, consumer information needs, delivery of genomic medicine, and challenges and barriers to integration of genomic medicine.
Data Synthesis Sixty-eight articles contributed data to the synthesis: 5 systematic reviews, 8 experimental studies, 35 surveys, 7 pre/post studies, 3 observational studies, and 10 qualitative reports. Three systematic reviews, 4 experimental studies, and 9 additional studies reported on outcomes of genetic services. Generally 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 systematic review, 1 randomized controlled trial, and 14 other studies assessed consumer information needs and found in general that genetics knowledge was reported to be low but that attitudes were generally positive. Three randomized controlled trials and 13 other studies assessed how genomic medicine is delivered and newer models of delivery. One systematic review and 19 other studies assessed barriers; the most consistent finding was the self-assessed inadequacy of the primary care workforce to deliver genetic services. Additional identified barriers included lack of oversight of genetic testing and concerns about privacy and discrimination.
Conclusion Many gaps in knowledge about organization, clinician, and patient needs must be filled to translate basic and clinical science advances in genomics of common chronic diseases into practice……”.
Delivery of Genomic Medicine for Common Chronic Adult Diseases
http://rand.org/pubs/research_briefs/RB9338/index1.html
“…..The greatest public health benefit from increased understanding of the human genome will probably come from translating advances in basic and clinical science into effective care for common chronic diseases, such as cardiovascular disease, diabetes, and cancer. Is the
The health care workforce is not adequately prepared to help integrate genomics into routine clinical practice. There are too few genetic specialists for common chronic diseases. Other health professionals, such as primary care clinicians and nurses, lack the knowledge and confidence to provide genetic services, including recognition of familial patterns of disease and ordering and interpreting genetic tests.
Consumers are optimistic yet cautious about genomic medicine. Consumers know little about genetics/genomics, but they are optimistic that genomic medicine will help identify and manage common chronic diseases for which they and their families are at risk. But consumers are also concerned that genetic information could be used to discriminate against them in health insurance or employment.
There is limited evidence about the health outcomes of genomic medicine for common chronic diseases. Most studies assessed the psychological well-being associated with genomic medicine; few focused on clinical outcomes. Among studies that focused on outcomes, there is no evidence that genetic counseling and testing cause psychological harm. Some studies identified health benefits from genetic information, such as preventive surgery for women with BRCA mutations (inherited alterations in specific genes that are involved in many cases of hereditary breast and ovarian cancer) and greater weight loss when diet recommendations are informed by genetic tests….”
Editorial: Genetics and Genomics for Clinicians
JAMA, March 19, 2008—Vol 299, No. 11 - American Medical Association
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