What guidelines exist for managing patients with a family history of genetic conditions?

Management of patients with a family history of genetic conditions involves thorough history-taking, risk assessment, appropriate referral, and provision of tailored information and support.

From age 16 to 45 years, take a detailed family history to identify genetic risks, including specific inherited conditions such as spinal muscular atrophy, cystic fibrosis, haemoglobinopathies, Fragile X syndrome, and Tay-Sachs disease, as well as ethnic background and consanguinity.

Obstetric history including pregnancy losses and congenital abnormalities should also be recorded.

Referral to a healthcare provider with genetics expertise is recommended for couples with a personal or family history of inherited genetic disorders, previous affected pregnancies, consanguinity, or recurrent pregnancy losses to allow risk assessment, evaluation, and consideration of diagnostic testing.

Carrier screening and counselling are ideally performed preconception to inform reproductive options.

For familial breast cancer, take a detailed first- and second-degree family history including age at diagnosis, presence of bilateral or male breast cancer, ovarian cancer, Jewish ancestry, and other related cancers.

People without a personal history of breast cancer but with low-risk family history (e.g., only one first- or second-degree relative diagnosed over age 40 without other risk factors) can be managed in primary care with standard written information and breast awareness advice.

Referral to secondary care or specialist genetic clinics is indicated for higher-risk family histories, such as early-onset breast cancer, multiple affected relatives, male breast cancer, or known gene mutations (e.g., BRCA1, BRCA2, TP53).

Specialist genetic clinics provide multidisciplinary care including genetic counselling, risk assessment using validated tools (e.g., BOADICEA), and support for decision-making about genetic testing and risk-reducing options.

For familial hypercholesterolaemia, do not use standard CHD risk tools; instead, identify very high-risk individuals (e.g., family history of premature CHD) and refer to specialists for management including lipid-lowering therapy and lifestyle advice.

Throughout, provide tailored information, psychological support, and ensure patients are involved in informed decision-making about their care.

These recommendations are based on NICE guidelines and expert consensus, emphasizing the importance of specialist referral for risk assessment and counselling, and the role of primary care in initial history-taking and low-risk management.

References: ¹,²,³,⁴