* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Draft Genetic and Metabolic Medicine knowledge guide
Genetic code wikipedia , lookup
Whole genome sequencing wikipedia , lookup
Metabolic network modelling wikipedia , lookup
Gene therapy wikipedia , lookup
Genetic drift wikipedia , lookup
Heritability of IQ wikipedia , lookup
History of genetic engineering wikipedia , lookup
Designer baby wikipedia , lookup
Quantitative trait locus wikipedia , lookup
Behavioural genetics wikipedia , lookup
DNA paternity testing wikipedia , lookup
Human genetic variation wikipedia , lookup
Pharmacogenomics wikipedia , lookup
Genetic engineering wikipedia , lookup
Public health genomics wikipedia , lookup
Population genetics wikipedia , lookup
Microevolution wikipedia , lookup
Genetic engineering in science fiction wikipedia , lookup
Genome (book) wikipedia , lookup
BASIC TRAINING Knowledge Guide Genetic and Metabolic Medicine COMMON PRESENTATIONS AND CONDITIONS Basic Trainees will require a sufficient depth of knowledge of these presentations and conditions. Cardiac syndromes » Brugada syndrome » long QT syndrome Cystic fibrosis Dementias Familial cancer syndromes Haemochromatosis Huntington disease Inherited dementia syndromes Klinefelter syndrome Marfan syndrome Multiple endocrine neoplasia Myotonic dystrophy Neurofibromatosis (NF-1) Trisomy 21 Turner syndrome For all common presentations, Basic Trainees will need to know how to: Synthesise » incorporate epidemiology, pathophysiology and clinical science » recognise the clinical presentation » take a relevant clinical history » conduct an appropriate examination » establish a differential diagnosis » plan and arrange appropriate investigations Manage » provide initial, evidence-based management » discuss the principles of ongoing management » apply quality use of medicines » recognise potential complications of the disease and its management, and initiate preventative strategies » refer appropriately Consider other factors » identify broader considerations and their impact on diagnosis and management RACP Basic Training Curriculum Adult Internal Medicine Genetic and Metabolic Medicine Knowledge Guide Page 1 BASIC TRAINING Knowledge Guide Genetic and Metabolic Medicine LESS COMMON OR MORE COMPLEX PRESENTATIONS AND CONDITIONS Other genetic neurocutaneous syndromes such as Sturge-Weber syndrome Urea cycle disorders Basic Trainees will need to have an awareness of, and an understanding of appropriate resources that should be used to help manage patients with these presentations and conditions. For all less common and more complex presentations, Basic Trainees will need to know how to: Synthesise » incorporate epidemiology, pathophysiology and clinical science » recognise the clinical presentation » take a relevant clinical history » conduct an appropriate examination » establish a provisional diagnosis » plan and arrange appropriate initial investigations Manage » initiate therapy in consultation » discuss broad therapeutic options » recognise potential complications » refer appropriately Consider other factors » identify broader considerations and their impact on diagnosis and management EPIDEMIOLOGY, PATHOPHYSIOLOGY AND CLINICAL SCIENCE Basic Trainees will be able to describe the principles of the foundational sciences. Basic principles of pharmacogenetics and individualised medicine Definitions of polymorphism, mutation, sex-linked, multifactorial inheritance and polygenic inheritance Genetic testing techniques, such as polymerase chain reaction (PCR), gene sequencing, chromosomal microarray, and exome and genome sequencing Principles of major cancer genetics Inheritance: » Mendelian » mitochondrial » parental disomy » polygenic » repeating triplet sequences » sex-linked Process of defining pathogenicity of mutations Structure and function of human cells, genes, DNA, RNA, and proteins RACP Basic Training Curriculum Adult Internal Medicine Genetic and Metabolic Medicine Knowledge Guide Page 2 BASIC TRAINING Knowledge Guide Genetic and Metabolic Medicine INVESTIGATIONS AND PROCEDURES Basic Trainees will know how to select and interpret the results of these investigations and procedures. IMPORTANT SPECIFIC ISSUES Basic Trainees will be able to identify important specialty-specific issues and their impact on diagnosis and management. LEARNING METHODS Suggested opportunities, activities, and resources to assist with learning. Know how to select and interpret the results of: » chromosome microarray (CMA) » conventional karyotype » single gene testing (e.g. cystic fibrosis (CF), myotonic dystrophy, spinocerebellar ataxia) Discuss the results of other commonly performed genetic testing: » attenuated phenotype » cystic fibrosis mutation testing » variants of uncertain significance (VOUS) or reduced penetrance Indications for appropriate referral to Clinical Genetics services, and the process for this, including referral for prenatal testing, carrier testing, and pre-implantation genetic diagnosis Constructing and interpreting genograms, particularly in relation to determining mode of inheritance Goals and potential benefits of the Human Genome Project Legal and ethical principles of genetic testing including: » need for written consent » predictive testing processes » ethical barriers to testing minors for adult onset conditions » implications to a patient and family of a genetic diagnosis Patient and family counselling regarding findings of variants of uncertain significance (VOUS) and incidental findings in genetic testing, including the absence of prognostic information, need for family studies, and possibility of functional studies Clinical experience with genetics patients in a range of settings Centre For Genetics Education www.genetics.edu.au Gene Reviews Series www.genereviews.org Genetic databases such as: » London medical databases’ The Winter-Baraitser Dysmorphology Database www.lmdatabases.com/index.html » Pictures of Standard Syndromes and Undiagnosed Malformations (POSSUM) www.possum.net.au » Online Mendelian Inheritance in Man (OMIM) www.omim.org RACP Basic Training Curriculum Adult Internal Medicine Genetic and Metabolic Medicine Knowledge Guide Page 3