What are the key genetic tests available for common hereditary conditions in primary care?

In primary care, key genetic tests available for common hereditary conditions focus primarily on carrier screening and risk assessment for inherited disorders with significant population impact and familial cancer syndromes. Carrier screening is routinely offered for haemoglobinopathies such as sickle cell disease and thalassaemia, especially in pregnant women from high-prevalence ethnic groups or areas, using blood tests supported by the Family Origin Questionnaire to identify carriers and guide partner testing if needed ⁴.

Pre-conception genetic risk assessment involves taking a detailed family history to identify risks for conditions like cystic fibrosis, spinal muscular atrophy, Fragile X syndrome, and Tay-Sachs disease, with referral to genetics specialists for counselling and testing when indicated, particularly in cases of consanguinity, recurrent pregnancy loss, or known family history of genetic disorders ¹.

Familial cancer syndromes are another key area where genetic testing is relevant. In primary care, patients with a family history suggestive of hereditary breast and ovarian cancer syndromes (e.g., multiple relatives with breast cancer diagnosed at a young age, ovarian cancer, or male breast cancer) should be referred for specialist genetic counselling and testing for mutations in genes such as BRCA1, BRCA2, and TP53 ³,². Testing is ideally initiated in an affected family member to identify pathogenic variants before predictive testing in unaffected relatives ³.

For ovarian cancer risk, primary care should refer individuals with first- or second-degree relatives diagnosed with ovarian cancer or those meeting specific clinical criteria for genetic testing of mismatch repair genes and BRCA mutations ².

Emerging evidence from recent literature also highlights the growing role of genetic testing in other cancers such as prostate cancer, where primary care may be involved in identifying patients for referral based on family history and clinical risk factors, although testing and management remain largely specialist-led (Giri et al., 2022).

Overall, genetic testing in primary care is primarily focused on identifying individuals at increased risk through family history and ethnicity-based screening, with subsequent referral to genetics services for counselling and confirmatory testing. Direct testing in primary care is limited and should be accompanied by appropriate pre- and post-test counselling to ensure informed decision-making ¹,³.