Genetics Refresher

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

Duration: 20 minutes

Learning Outcomes
  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
Reviewers and Advisors
Dr. Alexander Drew
Dr. Catherine Speechly
Dr. Anthony Wickins
Dr. Jane Crowe
Radhika Rajkumar
Developed by the KCCG Education and Communication Team (July 2018)
Amanda Chau
Andrew Gibb
Krista Recsei
Bronwyn Terrill
Lauren McKnight


Additional resources
Centre for Genetics Education, Fact Sheets
Genetics Home Reference, Help Me Understand Genetics

Next: Genomics and genomic testing

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