Genetic Health

Our health is shaped by a complex interplay of factors including the environment we live in, the lifestyle choices we make, and the genes we inherit. Genetic Health focuses on how our DNA influences our physical traits, our risk for certain conditions including cardiovascular disease and cancer, and even how we respond to medications and treatments. 

Clinical Genetics specialises in the diagnosis and management of conditions with a known or probable genetic basis. With recent advances in genetic testing come important ethical, social, and personal considerations. 

General practice is also central to pregnancy-related genetic counselling. This includes informing patients of non-invasive prenatal screening and testing for genetic conditions. In the postnatal period, GPs are ideally placed, in carrying out routine two- and six-week checks, to identify and refer infants with dysmorphic features, and later, older children with developmental delay or further specialist assessment which may involve genetic testing. 

Genetics intersects with many areas of primary care. In limited cases, GPs diagnose and manage genetic conditions e.g., hereditary haemochromatosis. GPs also provide vital ongoing support to individuals and families affected by genetic conditions and help coordinate care between clinical genetics services and other medical specialties. 

• GE1. Communicate information about genetics to patients and families, tailoring explanations to their level of understanding and addressing the implications of genetic conditions.
• GE2. Appropriately complete comprehensive family histories, assessing genetic risk, identifying at-risk individuals and facilitating timely referrals.
• GE3. Describe the patterns of genetic inheritance relating to common inherited conditions.
• GE4. Demonstrate a competent approach to managing genetic-linked conditions, including preventive measures, monitoring and ongoing care.
• GE5. Assist with coordinating the care of patients with genetic conditions, including referral for genetic counselling in line with national guidelines and collaboration with relevant specialists.
• GE6. Demonstrate awareness of relevant resources that are available for the support of individuals and families affected by genetic conditions.
• GE7. Demonstrate clear knowledge of the ethical aspects of genetic counselling including the importance of confidentiality, responsible use of genetic information and patient autonomy.
• GE8. Apply an ethical, legal and socially responsible approach to genetic testing in clinical practice.
• GE9. Support individuals and families in making informed reproductive decisions by providing clear, compassionate and evidence-based guidance.

For each problem or disease, consider the following areas within the general context of primary care:  

• The natural history of the condition, including whether acute or chronic
• The incidence and prevalence, including in different demographic groups
• Typical and atypical presentations
• Recognition of normal variations throughout life
• Risk factors, including lifestyle, socio-economic and genetic factors
• Diagnostic features and differential diagnosis
• Recognition of ‘alarm’ or ‘red flag’ features
• Appropriate and relevant investigations
• Interpretation of test results
• Management, including initial and continuing care, chronic disease monitoring and emergency care
• Patient and carer information and education
• Prognosis

Symptoms, Signs and Presentations

• Clinical suggestion of inherited disease (e.g., multiple family members affected at a younger age)
• Genetic 'red flags' (e.g., recurrent miscarriage, developmental delay with other morbidities)
• Predisposition to common diseases (e.g., coronary artery disease or cancer)
• Symptom complexes and multisystem involvement
• Symptoms and signs of specific conditions
• Variability of symptoms and signs between family members for some genetic conditions

Common and Important Conditions

• Autosomal Dominant Conditions (e.g., Familial Hypercholesterolaemia, Polycystic Kidney Disease, Huntington’s Disease, Thrombophilias, BRCA inheritance, Familial Adenomatous Polyposis, Marfan Syndrome)
• Autosomal Recessive Disorders (e.g., Cystic Fibrosis, Hereditary Haemochromatosis, Haemoglobinopathies, Sickle Cell Disease)
• Chromosomal Disorders (e.g., Down’s Syndrome, Trisomy 18, Turner Syndrome, Klinefelter’s Syndrome)
• Multifactorial Inheritance Conditions (e.g., Ischaemic Heart Disease, Hypertension, Diabetes, Cancer, Obesity)
• X-Linked Disorders (e.g., Fragile X Syndrome, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Haemophilia)

Wherever possible learning resources included here are peer reviewed and externally maintained. This is to ensure that trainees have access to quality assured information that is kept up to date.

Self-Directed 

Useful Websites

How to take and draw a genetic history

NCBI Databases of Genetic Conditions

National Centre for Medical Genetics (Ireland)

IBIS Breast Cancer Risk Evaluation Tool

RCGP Clinical Genetics & Genomics Resources

NCCP Resources on Lynch Syndrome 

Workplace Based Learning

In clinical settings, trainees encounter numerous inherited conditions, enabling the application of learned knowledge to tasks such as drawing family genetic pedigrees, recognising patterns suggestive of genetic disorders, and initiating appropriate referrals. Conducting consultations involving adult genetic counselling, newborn screening, and discussions about prenatal testing helps build confidence in navigating sensitive conversations with the support of your trainer.

Day Release

Genetic health can be effectively explored during day release teaching sessions through a combination of case-based learning and reflective discussions. Trainees can deepen their understanding by working through clinical scenarios involving family history assessment, genetic red flags, and appropriate referral pathways. Role-plays and simulated consultations can help build communication skills for discussing sensitive topics such as carrier status, prenatal testing, or predictive genetic results. Structured sessions can also cover key topics such as common inherited conditions, the ethical implications of genetic testing, and how to navigate available guidelines and referral tools. By integrating genetics into the broader context of primary care learning, day release sessions can prepare trainees to recognise when and how genetics is relevant in general practice.

Registrar Tutorials

These one-to-one sessions allow for tailored learning that addresses real clinical challenges trainees may face. These tutorials offer the opportunity for trainees to discuss cases with their trainer. Tutorials can cover key genetic topics such as how to take and interpret a family history, when to suspect a genetic condition, and how to manage or refer patients appropriately. Tutorials can also explore communication skills for discussing genetic risk, screening options, and consent for testing.

Entrustable Professional Activities (EPAs) underpin workplace-based assessment in this curriculum. Each EPA represents an integrated clinical task that General Practitioners must perform safely and independently, assessed through direct or indirect observation in real clinical settings.

The curriculum and EPA framework are closely aligned: the curriculum defines the required knowledge, skills, and professional behaviours, while EPAs assess their application in practice. Together, they create a coherent approach to developing and demonstrating readiness for independent clinical work.

The examples show how specific activities within general practice & chapters of the curriculum align with particular EPAs.

 EPA 17: Manage the integration of evidence-based therapeutics into patient care and prescribe and manage medications

For EPA 17, managing a patient with familial hypercholesterolaemia demonstrates competence in evidence-based prescribing, monitoring, and preventive care. A CBD can be used to review the case, discuss pharmacological and non-pharmacological management, and consider coordination with specialist lipid clinics and genetic services.

Core Knowledge Test (CKT)

• Criteria for BRCA gene testing referral

• Knowledge of antenatal and newborn genetic screening

• Identifying the correct inheritance pattern for Cystic Fibrosis

Clinical Competency Test (CCT)

• A couple planning a pregnancy present requesting advice regarding genetic screening.
• A patient with a family history of hemochromatosis.
• A patient with a family history of breast cancer.

Disclaimer: The examples provided within this section are intended to be indicative only and are included to illustrate how elements of the curriculum may be assessed in the Clinical Competency Test (CCT).

Examination questions in the CCT test the ability of candidates to integrate knowledge, skills, and professional behaviours across multiple curriculum areas to address the challenges posed by the question.

The indicative content should therefore be used solely as a general guide as to some of the topics that may be introduced. Actual examination questions will assess a greater depth and complexity of understanding than the illustrative examples provided.

Please note that a number of CCT questions will require candidates to undertake a physical examination of the simulated patient. In some circumstances, for example in the case of an intimate examination, candidates may be required to display their examination skills through use of a manikin or other device.