Genomics toolkit
Genetics usually refers to the study of single-gene disease, whereas Genomics refers to the study of the entirety of a person's DNA including genes and the DNA in between, known as the genome.
Guidance
NICE guidance
Familial Breast Cancer – includes sections on management in primary care, contraception and HRT, and chemoprophylactic Tamoxifen and Anastrazole.
- Familial breast cancer: NICE Guidance
- Familial hypercholesterolaemia: NICE Pathways
British Gastroenterology Society Guidance
Section Guidance On Large Bowel Surveillance For Individuals With A Family History Indicating A Moderate Risk PP15-16, outlines family histories which should be referred to secondary care, and those who should be cared for in primary care.
UKMEC
includes guidance for breast conditions, family history of breast cancer, and carriers of known gene mutations.
- UK Medical Eligibility Criteria for Contraceptive Use
- UK Medical Eligibility Criteria For Contraceptive Use – Full book
Neurofibromatosis Society guidance for review of NF1 patients in primary care. Managing chronic genetic conditions in practice.
- Guidance: Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81–88. doi:10.1136/jmg.2006.045906
RCGP Position statement on Direct-to-consumer testing (PDF).
Audit and quality improvement guidance
- Case-finding in familial hypercholesterolaemia
- RCGP QI guide
- RCGP appraisal and revalidation guidance
Consent and confidentiality in genomic medicine guidance: illustrates consent and confidentiality issues through discussion of case scenarios.