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Family with a genetic disorder
| Clinical Discipline(s)/Organ System(s) Medical Genetics, Neurology | Progress Test Topic(s) Neurological |
Description
During a clinical attachment you see a 64 year old NZ European man who has recently been diagnosed with Huntington's disease. He is with his daughter who asks you about her chance of having Huntington's disease and her chance of passing it on to her own children. She would like to know about genetic testing for this disorder
Progress Test-Type Questions: Question 1 | Question 2Applied Science for Medicine
- Describe genome organisation, gene structure, the flow of genetic information from DNA to RNA and protein, DNA replication, DNA repair and the cell cycle
- Describe the different types of mutations and explain their predicted consequences; somatic vs germline, phenotypic expression (loss-of-function vs gain-of-function)
- Describe modes of inheritance including autosomal dominant, autosomal recessive, X-linked and mitochondrial
- Explain genotype/phenotype correlation and discordance in phenotype within families with genetic disorders
- Normal karyotype and types of chromosome abnormalities (numerical, structural)
- Epigenetic effects: genomic imprinting, DNA methylation in cancer
- Triplet repeat expansion and implications for following generations
- Basic understanding of genetic laboratory techniques including polymerase chain reaction, DNA sequencing and microarray analysis
- Outcomes of the Human Genome Project; use of bioinformatics resources to assemble a range of information related to a genetic disorder
- Outline the principles of gene therapy and other genetic-based approaches to disease management (recombinant pharmaceuticals, genetically engineered antibodies and vaccines, targeted inhibition of gene expression)
- Describe genome organisation, gene structure, the flow of genetic information from DNA to RNA and protein, DNA replication, DNA repair and the cell cycle
- Describe the different types of mutations and explain their predicted consequences; somatic vs germline, phenotypic expression (loss-of-function vs gain-of-function)
- Describe modes of inheritance including autosomal dominant, autosomal recessive, X-linked and mitochondrial
- Explain genotype/phenotype correlation and discordance in phenotype within families with genetic disorders
- Normal karyotype and types of chromosome abnormalities (numerical, structural)
- Epigenetic effects: genomic imprinting, DNA methylation in cancer
- Triplet repeat expansion and implications for following generations
- Basic understanding of genetic laboratory techniques including polymerase chain reaction, DNA sequencing and microarray analysis
- Outcomes of the Human Genome Project; use of bioinformatics resources to assemble a range of information related to a genetic disorder
- Outline the principles of gene therapy and other genetic-based approaches to disease management (recombinant pharmaceuticals, genetically engineered antibodies and vaccines, targeted inhibition of gene expression)
Clinical and Communication Skills
- Take a family history of a genetic disorder and construct a pedigree
- Recognise clinical features of the more common genetic disorders: e.g. Down syndrome
- Types of genetic tests and indications for these; risks of prenatal testing including amniocentesis and chorionic villus sampling
- Outline interpretation of basic genetic laboratory studies
- Roles of clinical geneticist, genetic counsellor, genetic scientist/pathologist
- Acknowledge concerns of patient and family members. Defer discussions to appropriate specialists such as genetic counsellors when appropriate
- Take a family history of a genetic disorder and construct a pedigree
- Recognise clinical features of the more common genetic disorders: e.g. Down syndrome
- Types of genetic tests and indications for these; risks of prenatal testing including amniocentesis and chorionic villus sampling
- Outline interpretation of basic genetic laboratory studies
- Roles of clinical geneticist, genetic counsellor, genetic scientist/pathologist
- Acknowledge concerns of patient and family members. Defer discussions to appropriate specialists such as genetic counsellors when appropriate
Personal and Professional Skills
- Emotional and ethical implications of gene testing
- Awareness of own opinion regarding investigation and management of genetic disorders; respect patient autonomy
- Confidentiality of patient information and how information about one family member can reveal information about the whole family
- Emotional and ethical implications of gene testing
- Awareness of own opinion regarding investigation and management of genetic disorders; respect patient autonomy
- Confidentiality of patient information and how information about one family member can reveal information about the whole family
Hauora Māori
- Describe the characteristics that Māori ascribe to their genome and outline how this might impact on genetic research, diagnosis of genetic disorders and novel gene-based therapies
- Describe the characteristics that Māori ascribe to their genome and outline how this might impact on genetic research, diagnosis of genetic disorders and novel gene-based therapies
Population Health
- Demographics of commonly inherited conditions in the New Zealand population
- Demographics of commonly inherited conditions in the New Zealand population
Conditions to be considered relating to this scenario
Common
Down syndrome, thalassaemia, haemochromatosis, cystic fibrosis, Marfan syndrome
Down syndrome, thalassaemia, haemochromatosis, cystic fibrosis, Marfan syndrome
Less common but 'important not to miss'
Huntington's disease, phenylketonuria, Duchenne’s muscular dystrophy, familial adenomatous polyposis, fragile X syndrome, neurofibromatosis, tuberous sclerosis
Huntington's disease, phenylketonuria, Duchenne’s muscular dystrophy, familial adenomatous polyposis, fragile X syndrome, neurofibromatosis, tuberous sclerosis
Uncommon
Prader Willi/Angelman syndromes, achondroplasia, immunodeficiency (inherited)
Prader Willi/Angelman syndromes, achondroplasia, immunodeficiency (inherited)
