Key presentations and conditions
Basic Trainees will have a comprehensive depth of knowledge of these presentations and conditions.
Conditions
- Autosomal dominant polycystic kidney disease
- Cystic fibrosis
- Down syndrome
- Familial cancer syndromes, including:
- BRCA1 and 2
- hereditary non-polyposis colorectal cancer
- familial adenomatous polyposis
- multiple endocrine neoplasia
- Haemochromatosis
- Inherited cardiac diseases, such as:
- Brugada syndrome
- hypertrophic cardiomyopathy
- long QT syndrome
- Inherited dementia syndromes, such as Huntington disease
- Klinefelter syndrome
- Marfan syndrome
- Muscular dystrophies
- Becker muscular dystrophy
- Duchenne muscular dystrophy
- myotonic dystrophy
- Neurofibromatosis type 1 (NF1)
- Noonan syndrome (NS)
- Turner syndrome
For each presentation and condition, Basic Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, pathophysiology, and clinical science
- take a relevant clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients1 and their quality of life
Manage
- provide evidence-based management
For less common or more complex presentations and conditions the trainee must also seek expert opinions - prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Less common or more complex presentations and conditions
Basic Trainees will understand these presentations and conditions. Basic Trainees will understand the resources that should be used to help manage patients with these presentations and conditions.
Conditions
- Fabry disease
- Genetic neurocutaneous syndromes, such as:
- Sturge-Weber syndrome
- tuberous sclerosis
- Hereditary motor and sensory neuropathy
- Inherited neurological disorders, such as:
- hereditary spastic paresis
- spinocerebellar ataxia
- Metabolic causes of rhabdomyolysis, such as:
- CPT2 deficiency
- McArdle disease
- Urea cycle disorders, such as ornithine transcarbamylase (OTC) deficiency
For each presentation and condition, Basic Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, pathophysiology, and clinical science
- take a relevant clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients1 and their quality of life
Manage
- provide evidence-based management
For less common or more complex presentations and conditions the trainee must also seek expert opinions - prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Epidemiology, pathophysiology and clinical sciences
Basic Trainees will describe the principles of the foundational sciences.
- Basic principles of pharmacogenetics and individualised medicine
- Definitions of polymorphism and mutation
- Genetic testing techniques, such as polymerase chain reaction (PCR), Sanger gene sequencing, chromosomal microarray, and exome and genome sequencing
- Inheritance:
- imprinting
- Mendelian
- mitochondrial
- multifactorial
- parental disomy
- polygenic
- sex-linked
- trinucleotide repeat sequences
- Principles of major cancer genetics
- Process of defining pathogenicity of mutations
- Structure and function of human cells, genes, DNA, RNA, and proteins
Investigations, procedures and clinical assessment tools
Basic Trainees will know the indications for, and how to interpret the results of these investigations, procedures, and clinical assessments tools. Basic Trainees will know how to explain the investigation, procedure, or clinical assessment tool to patients, families, and carers.
Investigations
- Chromosome microarray (CMA)
- Commonly performed genetic testing (explain results only), such as:
- attenuated phenotype
- cystic fibrosis mutation testing
- reduced penetrance
- variants of uncertain significance (VOUS)
- Conventional karyotype
- Single gene testing, such as for cystic fibrosis, myotonic dystrophy, and spinocerebellar ataxia
Important specific issues
Basic Trainees will identify important specialty-specific issues and the impact of these on diagnosis and management.
- Constructing and interpreting genograms, particularly in relation to determining mode of inheritance
- Indications for appropriate referral to clinical genetics services, such as:
- carrier testing
- diagnosis of genetic syndromes
- management of metabolic disorders
- preimplantation genetic diagnosis
- referral for prenatal testing
- Legal and ethical principles of genetic testing, such as:
- ethical barriers to testing minors for adult onset conditions
- ethics consultation
- familial implications of a genetic diagnosis, including discussion of autosomal recessive, autosomal dominant, and X-linked inheritance
- need for and process of obtaining written consent
- predictive testing processes
- Patient and family counselling regarding findings of variants of uncertain significance (VOUS) and incidental findings in genetic testing, such as:
- absence of prognostic information
- need for family studies
- possibility of functional studies
- References to patients in the remainder of this document may include their families or carers.