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Welcome to NHS Evidence - genetic conditions

NHS Evidence, provided by NICE, is an information portal which will develop, enhance and expand the services that were previously provided by the National Library for Health (NLH). The aim of this specialist collection is to provide, for each condition, a selection of evidenced-based resources of different types, level and length that will support the differing needs of health care professionals requiring access to genetic information for themselves and their patients.  Currently the main audience for the library is likely to be staff in non-genetic disciplines, but it is also hoped that geneticists, particularly those in training may also use the site to compliment the existing specialist genetic databases and websites.

NEWS & EVENTS

Orphanet News 3 February
Orphanet list of European genetics meetings and conferences February 2010 - October 2010

Health ministers in England have agreed to national commissioning of services, effective 1 April 2010, for patients with the following disorders: neuromyelitis optica; Biedl-Bardet syndrome; Barth syndrome; Xeroderma pigmentosum; type 2 neurofibromatosis; cryopyrin associated periodic syndrome (Muckle Wells disease); and glycogen storage type V disease (McArdle disease). National commissioning establishes national centres of expertise for a specific disease and streamlines funding to one centralised source rather than being scattered amongst different local budgets (from Orphanet News 03/02/10 - For details of  proposed centres click here)

phgf: Project to study genetic origins of childhood cancers (1 February 2010) 

Behind the headlines: Genes 'affect cancer treatment'  (25 January) [Source: Nature medicine] 

BBC: Genes reveal 'biological ageing' (8 February) [Source: Nature genetics] New item

National Office of Public Health Genomics: Genomics &  health weekly update (28 January)

This section last updated  Tuesday 9 February 2010

RECENT ADDITIONS TO THE COLLECTION

Detail of new items added to the collection November 2009 - January 2010 can be found by clicking here or clicking on the News option in the menu bar. There are new resources on the following conditions: Breast & Ovarian cancer (1), Cystic Fibrosis (1), Diabetes (1), Down syndrome (1), Duchenne (1), Edwards (1), Familial hypercholesterolaemia (1), Klinefelter (1), Marfan syndrome (1), Neurofibromatosis (1), Osteogenesis Imperfecta (1), Patau (1), sickle cell disease (1), Triple X (1)

NEW PUBLICATIONS

The latest issue of Developmental Disabilities Research Reviews is a special issue on Cognitive profiles in sex chromosome disorders. Click here for more information.

A major international consensus document setting out best practice in care for Duchenne muscular dystrophy (DMD) has recently been published. The product of an extensive review process by 84 international experts in DMD diagnosis and care, this document is a unique guide to expert recommendations on the care that all individuals with DMD should receive. Click here for more information.

A consensus document on the definitions of the phenotypic manifestations of sickle cell disease has just been published. Click here for more information

This section last updated  Thursday 28 January 2010

2009 ANNUAL EVIDENCE UPDATE ON FAMILIAL HYPERCHOLESTEROLAEMIA

An extensive literature search has been carried out to identify the best clinical information on familial hypercholesterolaemia published since the 2008 NICE guidelines, to produce the 2009 Annual Evidence Update on familial hypercholesterolaemia. The results of the search are presented here organised by topic.

This section last updated 14 December 2009

WHAT'S IN THE COLLECTION

The genetic conditions specialist collection is being developed as a "one-stop" resource bringing together high quality, evidence-based information on all of aspects of genetic conditions, including their treatment and management and the impact they have on patients and their families.

The collection facilitates access to the best currently available evidence on genetics and genetic conditions in order to support and inform clinical care in NHS England as provided by doctors, clinicians, nurses, genetic counsellors and others. Patients, carers, support groups and the general public are welcome to use this site.

The collection provides access to online resources produced, commissioned or licensed by the NHS (e.g. Health Technology Assessment reports, NICE guidelines, National Service Frameworks, Centre for Reviews and Dissemination abstracts, the Cochrane Library); and professional body publications. Key research findings (as presented in peer-reviewed articles) that have shaped current clinical thinking and current practice are also being added to the collection. The collection also includes a number of commissioned Introductory briefings on some common individual conditions and carefully selected patient support information.

The collection is run by the National Genetics Education and Development Centre, which is based at the Birmingham Women’s NHS Foundation Trust. The collection  will continue to evolve and grow and if you have any questions, comments and/or suggestions, please get in touch with us via the feedback form. We regret that we are unable to respond to personal medical queries and such messages will not be answered. For such matters we would advise you to access the NHS choices website (which has recently been integrated with NHS Direct Online) or your usual doctor.

This section last updated 2 April 2009