Please find below a list of other resources which patients and professionals may find helpful.
Family History Questionnaire Service (FHQS)
Please see here for more information on the Family History Questionnaire Service (FHQS). Some patients with a personal or family history of cancer are asked to complete this questionnaire as part of their referral to Clinical Genetics.
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. Please note, recommendations (e.g. for screening) may vary between Australia and the UK.
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.
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.
Inheritance patterns
Below are patient information leaflets and information videos explaining different types of inheritance pattern.
Autosomal dominant inheritance
- Information guide (AD)
- GeNotes visual aid (AD)
- A video explaining autosomal dominant inheritance, from UCD Medicine, Dublin.
Autosomal recessive inheritance
- Information guide (AR)
- GeNotes visual aid (two carrier parents, AR)
- GeNotes visual aid (one affected parent, AR)
- A video explaining autosomal recessive inheritance, from UCD Medicine, Dublin.
X-linked recessive inheritance
- Information guide (XLR)
- GeNotes visual aid (carrier mother, XLR)
- GeNotes visual aid (affected father, XLR)
- A video explaining X-linked recessive inheritance, from UCD Medicine, Dublin.
Mitochondrial inheritance
- Information guide (Mito)
- GeNotes visual aid (mito)
- A video explaining mitochondrial inheritance, from Harvard Online.
Reciprocal translocations
- Information guide (Recip)
- GeNotes visual aid (Recip)
- GeNotes visual aid (Pregnancy outcomes, Recip)
- A video explaining reciprocal translocations (when one part of a chromosome is exchanged with another), from UCD Medicine, Dublin.
Robertsonian translocations
- Information guide (Rob)
- GeNotes visual aid (Rob)
- GeNotes visual aid (Pregnancy outcomes, Rob)
- A video explaining a type of translocation involving specific chromosomes, from UCD Medicine, Dublin.