Genomics in the Scientific Literature [27] - Personalized Medicine

Genomics in the Scientific Literature
Topics in the Scientific Literature

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Personalized Medicine
1. Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers
Lachance CR, et al.
Genet Med 2010 Apr

Genet Med. 2010 Apr 9. [Epub ahead of print]

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers.
Lachance CR, Erby LA, Ford BM, Allen VC Jr, Kaphingst KA.

From the 1Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; and 2Department of Health, Behavior and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.

Abstract
PURPOSE:: As direct-to-consumer genetic testing becomes more available, a diverse group of consumers, including those with limited health literacy, may consider testing. In light of concerns raised about direct-to-consumer genetic testing, this study sought to critically examine whether the informational content, literacy demands, and usability of health-related direct-to-consumer websites met existing recommendations. METHODS:: A content analysis was performed on 29 health-related direct-to-consumer websites. Two coders independently evaluated each website for informational content (e.g., benefits, limitations), literacy demands (e.g., reading level), and usability (e.g., ease of navigation). RESULTS:: Most sites presented health conditions and some markers for which they tested, benefits of testing, a description of the testing process, and their privacy policy. Fewer cited scientific literature, explained test limitations, or provided an opportunity to consult a health professional. Key informational content was difficult to locate on most sites. Few sites gave sample disease risk estimates or used common language and explained technical terms consistently. Average reading level was grade 15. CONCLUSION:: The quality of informational content, literacy demands, and usability across health-related direct-to-consumer websites varied widely. Many users would struggle to find and understand the important information. For consumers to better understand the content on these sites and evaluate the meaning of the tests for their health, sites should lower the demands placed on users by distilling and prioritizing the key informational content while simultaneously attending to the reading level and usability elements. In the absence of regulation compelling such changes, government agencies or professional organizations may need to increase consumer and provider awareness of these issues.

PMID: 20386454 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20386454?dopt=Abstract


2. The past, present, and future of direct-to-consumer genetic tests
Helgason A & Stefansson K
Dialogues Clin Neurosci 2010;12(1):61-8

Dialogues Clin Neurosci. 2010;12(1):61-8.

The past, present, and future of direct-to-consumer genetic tests.
Helgason A, Stefánsson K.

deCODE Genetics, Reykjavik, Iceland. agnar@decode.is

Abstract
Technological advances in the field of human genetics have resulted in a wave of discoveries of common DNA sequence variants that are associated with a risk of common complex diseases, such as heart attack, that account for a substantial proportion of morbidity, mortality, and health care costs in most contemporary populations. The overall predictive power of these sequence variants can be considerable, due to the high incidence of these diseases and the sheer number of associations that have been discovered. Health care providers have been slow to utilize this knowledge for preventative medicine. However, several companies have taken on a translational role by offering genetic tests based on these discoveries direct to consumers. In this paper, we review the current state and future prospects of such genetic tests, as scientists involved both in the discovery of disease associations and the development of genetic tests.

PMID: 20373667 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20373667?dopt=Abstract