Genetics Refresher

Resource overview: An optional primer on genetic foundations for RACGP/ACRRM accredited module Navigating genomic testing in primary care

Duration: 20 minutes

1. Define genomics and genomic testing
2. Understand the relationship between genetic concepts (DNA, RNA, protein, genotype vs phenotype)
3. Explain different types of variants
4. Recognize patterns of inheritance
5. Identify resources for taking a family history and pedigree analysis

1. Genomics and genomic testing
2. Relationship between genetic concepts
   
   1. From DNA to protein
   2. Genetic variation
   3. Alleles
3. Genotype and phenotype
   1. Penetrance
   2. Expressivity
4. Types of variants
   
   1. Classification based on cell type: somatic, germline
   2. Classification based on type of alteration: SNP/SNV, indel, structural variation
5. Inheritance patterns
   
   1. Monogenic: autosomal dominant, autosomal recessive, X-linked, Y-linked
   2. Mitochondrial
   3. De novo
   4. Multifactorial or complex
6. Family history and pedigree analysis

Next: Genomics and genomic testing

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