What is the role of genetic testing in the management of inherited metabolic disorders in primary care?

Role of Genetic Testing in Inherited Metabolic Disorders within Primary Care

Genetic testing plays a crucial role in the diagnosis and management of inherited metabolic disorders by helping to confirm a suspected diagnosis, guide further specialist referral, and inform family risk assessment and counselling. In primary care, genetic testing should be considered when there is a clinical suspicion of an inherited metabolic disorder based on family history or presenting features, but testing and interpretation should be coordinated with specialist genetic services.

Before genetic testing, it is essential to discuss the purpose, potential outcomes, and implications of the test with the patient and their family, ensuring informed consent and appropriate genetic counselling are obtained in line with NHS Genomic Medicine Service standards.

Testing is often initiated by identifying an affected family member to find a causative mutation, which can then guide predictive testing in relatives. Primary care clinicians should refer patients to specialist genetic clinics for testing and counselling, especially when the probability of a genetic mutation is significant or when complex interpretation is required.

Genetic testing can also aid in clarifying diagnosis in cases where clinical features are ambiguous, enabling tailored management plans and informing prognosis. Additionally, it supports cascade testing in families to identify at-risk individuals and implement early interventions or surveillance.

Overall, while primary care providers play a key role in recognizing potential inherited metabolic disorders and facilitating initial discussions, genetic testing itself is typically conducted and interpreted within specialist settings, with primary care supporting ongoing management and coordination of care.

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