Patient support & other useful information
Please find below a list of other resources which patients and professionals may find helpful.
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.
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
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.
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.
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”.
Below are patient information leaflets and information videos explaining different types of inheritance pattern, from UCD Medicine, Dublin.
Autosomal dominant inheritance
A video explaining mitochondrial inheritance from Harvard Online.
A video explaining reciprocal translocations (when one part of a chromosome is exchanged with another), from UCD Medicine, Dublin.
A video explaining a type of translocation involving specific chromosomes, from UCD Medicine, Dublin.