Below we list some websites and organisations that provide helpful information for patients and professionals on genetics, genetic conditions and genetic testing. This list is by not meant to be exhaustive, and is largely confined to organisations based in the UK. We accept no responsibility for the information provided by these resources.
GIG - Genetic Interest Group (UK). http://www.gig.org.uk. A not-for-profit national alliance of UK patient organisations which support children, families and individuals affected by genetic disorders. The site includes accessible general information on genetics and testing.
OMIM- Online Mendelian Inheritance in Man (US) National Institutes of Health database of research articles on human genes and genetic disorders. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
PHGU - Public Health Genetics Unit (UK). http://www.phgufoundation.org PHG Foundation is an international, independent charity that works with partners to achieve better health through the responsible and evidence-based application of biomedical science.
WHO Genomic Resource Centre. http://www.who.int/genomics/public/geneticdiseases. A World Health Organisation website providing information on genetic diseases for patients and the public.
NELH - National Electronic Library for Health (UK). www.nelh.nhs.uk A digital library for the NHS providing access to evidence-based information on conditions and treatment. Patient users are welcome, although NELH recommends NHS Direct Online for www.nhsdirect.nhs.uk
DIPEX - Database of Patient Experiences. (UK) www.dipex.org Oxford-based charity providing resources on the patient experience of a range of health conditions.
Patient UK. www.patient.co.uk (UK) Online directory of websites providing patient information on a range of health conditions.
Contact a Family. www.cafamily.org.uk (UK) National charity providing advice, information and support to the parents of all disabled children.
DISCERN Treatment - www.discern.org.uk
Charnock D, Shepperd S, Needham G, Gann R. DISCERN: An instrument for judging the quality of written consumer health information on treatment choices. Journal of Epidemiology and Community Health 1999, 53:105-111.
The DISCERN Handbook Quality criteria for consumer health information. User guide and training resource. Compiled by D. Charnock. Radcliffe Medical Press:Abindgon, 1998.
Charnock D, Shepperd S. DISCERN on the internet. Quality criteria for online consumer health information on treatment choices. He@lth Information on the Internet 1999, 7:6-7.
Charnock D, Shepperd S. DISCERN and its role in the future of consumer health information. Health Libraries Review, 2000, 17: 56-58.
Clisby N, Charnock D. DISCERN/CASP Workshops 2000. Final Project Report, October 2000. Critical Appraisal Skills Programme (CASP), Institute of Health Sciences, Oxford.
Shepperd S, Charnock D, Cook A. A 5-star rating system for rating the quality of information based on DISCERN. Health Information and Libraries Review, 2002, 19, 201-205.
Charnock D, Shepperd S. DISCERN on the internet: workshop participants' views and experiences. Health Education Research. 2004, 19, 440-446.
Shepperd, S., Farndon, P., Grainge, V., Oliver, S., Parker, M., Perera, R., Bedford, H., Elliman, D., Kent, A., Rose, P. DISCERN-Genetics: quality criteria for information on genetic testing. In press European Journal of Human Genetics
Shepperd S, Charnock D, Gann B. Helping patients access high quality health information. British Medical Journal, 1999, 319: 764-766.
Shepperd S, Charnock D. Against internet exceptionalism. (Editorial) British Medical Journal, 2002, 324: 556-557.
Basic Skills Agency (UK) www.basic-skills.co.uk Government funded organisation working to improve literacy and numeracy. The Agency provides advice on best practice for producing information
Disability Discrimination Act 2005 (UK) London: The Stationery Office Limited. ISBN 0 10 541105 1. www.opsi.gov.uk/acts/acts2005/20050013.htm
Lazarus W, Lipper L, Roberts K, Fireman R, Rose M. (US) The search for high quality online content for low-income and underserved communities. The Children's Partnership, October 2003. Available online through the Content Bank www.contentbank.org/AM/Template.cfm?Section=Home&Template=/CM/ContentDisplay.cfm&ContentFileID=1050
Multikulti - www.multikulti.org.uk (UK) Multikulti aims to support citizenship through the delivery of culturally appropriate and accurately translated information in the following areas of welfare law - debt, employment, health, housing, immigration and welfare benefits.
National Cancer Institute (US) Research based usability guidelines. www.usability.gov/guidelines/
National Library for the Blind gateway to accessible sites (UK) www.a-sites.org
Publicly Available Specification (PAS 78) (UK).Guidelines developed by the Disability Rights Commission (DRC) in collaboration with the British Standards Institution (BSI) outlining good practice in commissioning websites that are accessible to and usable by disabled people. It is available to purchase from BSI at www.bsi-global.com
Plain English Campaign (UK) www.plainenglish.co.uk/index.html. Provides guidelines and evaluations for information clarity, and also produces the Plain English Guide to Designing Clear Websites which addresses issues such as navigation, text, colour, page design
RNIB - Royal National Institute for the Blind (UK). www.rnib.org.uk. National charity for the blind and sight-impaired. RNIB produces guidelines for production of print and online materials that are in accordance with legislation and best practice.
W3C - World Wide Web Consortium www.w3.org The W3C Website Content Accessibility Guidelines (WCAG 2.0 www.w3.org/WAI/GL/WCAG20) have been adopted internationally to enable universal accessibility, and are being implemented as part of the UK Disability Discrimination Act 2005.
Wright P. Comprehension of printed instructions. In D. Wagner, R Venezky & B.Street (Eds) Literacy: an international handbook. Boulder Co: Westview Press. 1999.
Flesch RF. A new readability yardstick. Journal of Applied Psychology 1948; 32:221-33.
Gunning R. FOG Index. The Technique of Clear Writing. New York: McGraw-Hill Book Company, 1973.
McLaughlin G. SMOG Grading: A new readability formula. Journal of Reading, 1969, 12 (8), 639-646.
British Medical Journal Special issue on Risk Communication. British Medical Journal, 2003, 327 (27 September)
Bennett P, Calman K (eds). Risk communication and public health. Oxford University Press, Oxford: 1999.
Department of Health (DoH). Communicating about risks to public health. Pointers to good practice. 1997. www.dh.gov.uk
Gigerenzer G. Reckoning with Risk. Learning to live with uncertainty. Penguin Books, London: 2002