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.
- Lynch syndrome web resources includes guidance for pathologists and colorectal MDTs.
- 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
- Bowel Cancer UK is a national charity which aims to save lives by raising awareness of bowel cancer, campaigning for best treatment and care and providing practical support and advice.
- Breakthrough Breast Cancer is a pioneering charity saving lives and changing futures, through research, campaigning and education – removing the fear of breast cancer for good.
- Breast Cancer Care is a UK charity which provides patient support, including information, online discussion forums, contact details and free telephone support groups for carriers of a breast cancer gene, who either have or have not had breast cancer.
- The Cancer Genetics StoryBank is an online collection of stories about cancer genetics. It consists of digital stories from patients covering topics such as living with the risk of cancer, compiling a family tree, telling a family member about a cancer diagnosis and making decisions about surgery and screening.
- Cancer Research UK is the world's leading charity dedicated to saving lives through research, by discovering new ways to prevent, diagnose and treat cancer.
- 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.
- TheEve Appeal funds research into gynaecological cancer to help develop effective methods of prediction, detection, treatment and care that will help save women's lives not only in the UK but throughout the world.
- The Haemochromatosis Society was set up to provide support and information for those affected by GH (Genetic Haemochromatosis).
- Macmillan Cancer Support provides quality assured, up-to-date cancer information, written by specialists for patients, relatives and carers. It also provides a free telephone service for questions about cancer and support.
- Ovacome is a nationwide support group providing information and support for everyone affected by ovarian cancer.
- 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.
- Target Ovarian Cancer is dedicated to achieving a long and good life for every woman with ovarian cancer.
- The Association for Multiple Endocrine Neoplasia Disorders (AMEND) is a resource for patients throughout the world who have the rare hereditary conditions of MEN Type 1 or Type 2.
- The St Mark’s Polyposis Registry is the oldest in the world and has the aim of studying polyposis and preventing cancer. They look after over 800 patients who belong to polyposis families and attend St Mark’s, but they are also available to speak to anyone who wishes to obtain information about polyposis.
- Prostate Cancer UK provides up-to-date specialist information for men affected by prostate cancer and their friends and families.
- VHL Family Alliance is dedicated to improving diagnosis, treatment, and quality of life, for individuals and families affected by Von Hippel-Lindau disease.
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.