https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/clinical-genetics-information-parents-and-visitors/support-and-information/
Clinical Genetics support and information
Information for health professionals
- Genetic tests in England are funded centrally through the NHS Genomic Medicine Service to endure equitable access. Full details of all available tests and relevant eligibility criteria can be found in the National Genomic Test Directory.
- Genetic samples from most hospitals in the region are sent to the North Thames Genomic laboratory hub at Great Ormond Street Hospital, where test request forms for the genomic laboratory hub are also available.
- The NHS North Thames Genomic Medicine Service (GMS) Alliance is one of seven alliances launched by NHS England in January 2021, created to support the systematic implementation of genomic medicine into the mainstream healthcare system. The GMSA provides education resources to support clinicians and patients
- The NHSE Genomics Education Programme provides numerous education resources, information leaflets and details regarding additional training and qualifications in genetics, including GeNotes for instant-access concise genomics information
- Future Learn provides free courses including: ‘What is genetic counselling?’
- The future of genetics in medicine contains information on how developments in genomics are transforming knowledge and treatment of conditions such as diabetes.
- For up to date guidance on current cancer genetics patient care please review the UK Cancer Genetics Group resources.
- The ISRCTN registry is a primary clinical trial registry recognised by WHO and ICMJE that accepts all clinical research studies (whether proposed, ongoing or completed), providing content validation and curation and the unique identification number necessary for publication. All study records in the database are freely accessible and searchable. ISRCTN supports transparency in clinical research, helps reduce selective reporting of results and ensures an unbiased and complete evidence base.
- The UK National Screening Committee website has information on all national programs, including antenatal and newborn screening.
- Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr Victor A McKusick and his colleagues at Johns Hopkins and elsewhere.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs.
- The Association of British Insurers has produced an information leaflet for consumers regarding the current moratorium on genetic testing and insurance.
Information about genetics for patients and families
Modes of inheritance:
Additional useful resources for families:
- Genetic Alliance UK: the national charity of over 130 patient organisations, supporting all those affected by genetic conditions. The website contains an introduction to genetics and genetic conditions and has many patient information leaflets.
- Unique Rare Chromosome Disorder Support Group provides information and support to families and individuals affected by any rare chromosome disorder.
- Contact a Family provides support, advice and information for families with disabled children, no matter what their condition or disability.
- Antenatal Results and Choices (ARC) is a national charity which provides non-directive support and information to parents throughout the antenatal testing process.
The information leaflet below may also be helpful:
Other Support Groups for patients and families
- There are many charity and patient support groups for patients and families with hereditary cancer predisposition syndromes. More information can be found at the UK Cancer Genetics Group patient resources
- Children Living with inherited Metabolic Diseases(Climb) is the United Kingdom's foremost provider of free metabolic disease information to young people, adults, families, professionals and other interested groups.
- The Haemochromatosis Society was set up to provide support and information for those affected by GH (Genetic Haemochromatosis).
- Syndromes Without a Name (SWAN UK) is a project run by Genetic Alliance UK offering support and information to families of children with undiagnosed conditions.
Learn more about genome sequencing in our videos.
Genome sequence part 1
Discover what your genome is and how the technology behind whole genome sequencing works. This short animation, aimed at young people, explains what genome sequencing is and what happens when patients have their genome sequenced. It is of relevance to patients, their parents and anyone else who wants to learn more about the world of genetics.
Genome sequence part 2
Understand more about how having your genome sequenced can help doctors to find the cause of your condition. In the second animation in our series "My Genome Sequence", we also explain some of the current limitations and uncertainties of genome sequencing.