Diagnostic tests in genetics : Introduction

Primary care clinicians play an increasingly important role in identifying patients who may benefit from genetic testing and in managing patients with genetic conditions. For the MRCGP AKT exam, it's crucial to have a solid understanding of the most common genetic tests used in general practice, their indications, limitations, and interpretation.Key areas to focus on include:

1. Family history assessment: This remains one of the most important tools for identifying patients who may benefit from genetic testing. Understanding how to take a comprehensive family history and recognize patterns suggestive of inherited conditions is essential.
2. Carrier screening: Tests for recessive genetic disorders, particularly in individuals planning pregnancy. Common examples include cystic fibrosis, sickle cell disease, and Tay-Sachs disease.
3. Prenatal genetic testing: Including non-invasive prenatal testing (NIPT) for chromosomal abnormalities and invasive tests like amniocentesis and chorionic villus sampling.
4. Newborn screening: Understanding the conditions screened for in your region and how to interpret and act on results.
5. Pharmacogenetic testing: To guide medication choices and dosing, particularly for certain psychiatric medications and anticoagulants.
6. Cancer predisposition testing: For hereditary cancer syndromes like BRCA1/2 mutations for breast and ovarian cancer, or Lynch syndrome for colorectal cancer.
7. Diagnostic testing for suspected genetic conditions: Such as Fragile...