Patient support & other useful information

Please find below a list of other resources which patients and professionals may find helpful.

Unique

Unique are a charity who provide free information guides for a large number of chromosomal disorders (e.g. microdeletions and -duplications) and single gene disorders. A list of available guides can be found on their website.

ScotGEN

The Scottish Genetics Education Network also provide some patient information leaflets for specific conditions.

UKCGG

The UK Cancer Genetics Group provide useful information leaflets on a number of cancer predisposition genes, including BRCA1/2, PALB2, BRIP1, FLCN, FH, RAD51C/D, PTEN, lynch syndrom,e and chemoprevention in moderate and high-risk women. These leaflets are aimed at health professionals, but they provide information which patients may also find helpful.

eviQ

EviQ is an Australian resource which provides a wide range of information leaflets on cancer predisposition genes and disorders including ATM, BRCA1/2, BRIP1, CDH1, CDKN2A, CHEK2, Lynch Syndrome, Gorlin Syndrome, RAD51C/D, SDHx, TP53, BAP1, Birt-Hogg-Dube Syndrome, PTEN, DICER1, Familial Adenomatous Polyposis, HLRCC, HPT-JT, Juvenile Polyposis Syndrome, MEN1/2, NF1/2, Peutz-Jeghers syndrome, Serrated Polyposis syndrome and VHL.

Insurance and genetic testing

For information on genetic testing and insurance implications, please see information provided by Genetic Alliance and the Association of British Insurers.

Insurance, family history and genetic testing | Genetic Alliance UK

Code on Genetic Testing and Insurance | ABI

Genetics FAQs | ABI

BRCA Link NI

BRCA Link NI are “a voluntary organisation in Northern Ireland helping people to access information and support about BRCA genetic mutations whilst raising awareness of Hereditary Breast and Ovarian Cancer”. As well as support and information, they organise regular formal and informal events.

NiCan

The Northern Ireland Cancer Network is a “strategic clinical network which brings together those who use, provide and commission services to make improvements in patient pathways using an integrated, whole system approach.” As well as support and information, they organise regular events.

NIRDP

The Northern Ireland Rare Disease Partnership (NIRDP) is a charity which “aims to work with stakeholders and service delivery organisations to find practical ways of improving the quality of life, treatment and care for those with rare diseases in Northern Ireland.” They can be contacted for support, signposting and information.

Antenatal Results and Choices

Antenatal Results and Choices (ARC) are a national charity “helping parents and healthcare professionals through antenatal screening and its consequences”. They aim to offer “impartial information and support to expectant parents facing decisions about antenatal tests and results” and to “provide independent, accurate, unbiased information so that parents can take the decisions that are right for them”.

Gene People

Gene people “provide a free genetic counsellor-led helpline for all genetic conditions. Their helpline is for patients, family members, professionals and the public with questions or concerns about a genetic condition, diagnosis, testing, referrals or support. It is a free, confidential and non-judgemental service available for people whenever questions come to mind or they feel ready to talk and understand more”.

Eurogems

Eurogems brings together a large number of education resources, related to genetics and genomics. They provide signposting to resources for genetics professionals, non-genetic specialists and primary care, patients and families and educational institutions.