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Clinical Review

Online medical genetics resources: a US perspective

BMJ 2001; 322 doi: (Published 28 April 2001) Cite this as: BMJ 2001;322:1037
  1. Alison Stewart, chief knowledge officera (,
  2. Neva Haites, professorb,
  3. Peter Rose, lecturerc
  1. a Public Health Genetics Unit, Strangeways Laboratory, Cambridge CB1 8RN
  2. b Department of Medical Genetics, University of Aberdeen, Aberdeen AB25 2ZD
  3. c Department of Primary Health Care, University of Oxford OX3 7LF
  1. Correspondence to: A Stewart
  • Accepted 23 March 2001

Health professionals, patients, and the general public need authoritative, up to date information on genetics to enable them to understand and apply advances in this discipline. The immediacy and accessibility of the world wide web make it the perfect vehicle for this information. Identifying high quality resources tailored to the requirements of particular users among the vast number of sites is not easy. We have compiled a list of useful web resources from the perspective of users based in the United Kingdom.

Summary points

Several websites provide information for geneticists on genetic disease, genetic services, and professional training

Two UK sites act as gateways to information on specific diseases and support groups, suitable for patients and their carers

Public health professionals and policymakers are well served by sites maintained by the Department of Health and the NHS

Good web based information on genetics for general practitioners and non-geneticist clinicians is lacking

Ethical, legal, and social issues in genetics are covered in sites maintained by national and international regulatory bodies in bioethics


We selected sites on the basis of those used most often by our colleagues in different specialist areas of genetics. This article represents a consensus of their views. Sites are grouped by their major user communities; there is overlap, but the contents of the site give a good indication of those with wider relevance. We have also included both national and international online resources for bioethics.

Sites for genetics professionals

OMIM—Online Mendelian Inheritance in Man ( is the “Bible” for all geneticists. The site contains constantly updated information on over 12 000 genetic diseases, their symptoms, inheritance patterns, and associated genetic loci (where known). It is easy to search and is now linked to the National Center for Biotechnology Information's “Entrez” system, so that it can be queried in the same way as other resources …

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