Online medical genetics resources: a UK perspective

British Medical Journal, April 28, 2001 by Alison Stewart, Neva Haites, Peter Rose

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

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.

Methods

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 (www.ncbi.nlm.nih.gov/Omim/) 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 such as PubMed and GenBank.

The British Society for Human Genetics (www.bshg. org.uk) is a federation of professional associations representing genetics professionals. Its site includes information about training and accreditation in genetics, regional genetic centres, and the society's policy statements. It also hosts the minutes of the joint committee on medical genetics, the profession's main advisory body to the government and other organisations.

The Clinical Molecular Genetics Society (www. leeds.ac.uk/cmgs) provides a useful compendium of practical information. The site includes a searchable list of DNA tests offered by NHS based laboratories (and a link to the European directory of DNA laboratories), best practice guidelines for DNA tests for several different genetic diseases, and information on jobs and accreditation.

The European Society of Human Genetics (www.eshg. org) is an international professional association. Its well organised and frequently updated site includes information about courses and conferences, a page of links, and the policy documents formulated by the society's professional and public policy committee.

The human gene mutation database (archive. uwcm.ac.uk/uwcm/mg/hgmd0.html) is a comprehensive international database of genetic lesions that cause disease. It is regularly updated and may be searched by disease, gene name, or identifiers used by OMIM.

The familial cancer database (facd.uicc.org/) offers free software for downloading, which is designed to aid in the differential diagnosis of familial cancer. Registration is required.

Sites for other doctors and other primary care professionals

We could find no single site with comprehensive coverage of genetics topics of interest to professionals in primary care. A promising development is the planned addition of a "virtual genetics group" to the Royal College of General Practitioners clinical and special projects network. Its web page should be operational later this year (www.rcgp.org.uk/rcgp/ clinspec/index.asp).

The South West Thames Regional Genetics Service (www.genetics-swt.org/main.htm) operates from St George's Hospital Medical School in London. The site contains information on local services. The "GP forum" pages contain brief notes about topics such as taking a family history, inheritance patterns for single gene disorders, and familial cancers.

Two sites based in the United States offer courses on genetics for doctors that can be downloaded. Although they are tailored for American users, they are a useful resource for organisers of training courses for general practitioners and for doctors with a special interest in genetics.

Genetics and your practice (mchneighborhood. ichp.edu/wagenetics/906317226.html) is produced by the Washington State Department of Health. The course was last updated in August 2000.

Clinical genetics: a self-study guide for health care providers (med.usd.edu/som/genetics/curriculum/ Handspic.html) is produced by the University of South Dakota Medical School. The course is not dated.