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  1. Roberta A Pagon, professor of paediatrics (bpagon@u.washington.edu),
  2. Linda Pinsky, assistant professor of internal medicine,
  3. Christine C Beahler, librarian
  1. University of Washington School of Medicine, Seattle, WA 98195, USA
  1. Correspondence to: R A Pagon, GeneClinics, Seattle, WA 98115, USA

    Over the past decade daily advances in gene discovery fuelled by the human genome project have propelled molecular genetic testing into mainstream medicine. Molecular genetic testing is a sensitive, cost effective means of diagnosis, testing for carrier status, and prenatal diagnosis for many inherited disorders, and it is increasingly used for predictive and predispositional testing. Those who rely on genetic testing find it a challenge keeping up to date with information, particularly when guidelines for use lag behind the availability of tests. We looked critically at online resources relevant to geneticists, providers of primary care (who have been identified by their patients as the primary source of information on genetic testing (www.ama-assn.org/ama/pub/article/2304-2937.html)), and informed patients. 1 2

    Summary points

    For geneticists, web based resources describe mendelian disorders, genetic testing in specific inherited disorders, ethical issues and resources, and protocols for screening newborn infants

    Few resources exist for providers of primary care, who need tools to identify high risk patients and guidelines on effective interventions

    Websites and directories provide information for consumers on lay organisations, the management of disease, patient advocacy, and support services

    Methods

    We relied on our experience as medical geneticist, teachers of medical students, residents and physicians in internal medicine and family practice, and medical librarians; our participation in genetics resources on the web (GROW), which promotes the development of high quality accessible internet resources on genetics3; and the genetics in primary care project, administered by the Society for Teachers of Family Medicine and cofunded by the Health Resources and Services Administration, the National Institutes of Health, and the Agency for Health Care Policy and Research (www.mchb.hrsa.gov/html/genetics.html). We selected resources that we determined to be of high quality by using the Mitretek criteria for evaluating health information on the internet (see BMJ's website).4

    Uses of molecular genetic testing

    Diagnosis (Friedreich's ataxia, …

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