{"id":70,"date":"2025-05-13T07:55:24","date_gmt":"2025-05-13T14:55:24","guid":{"rendered":"https:\/\/blogs.ubc.ca\/npedge\/?page_id=70"},"modified":"2025-06-04T06:25:26","modified_gmt":"2025-06-04T13:25:26","slug":"genomics-101","status":"publish","type":"page","link":"https:\/\/blogs.ubc.ca\/npedge\/genomics-101\/","title":{"rendered":"Genomics 101"},"content":{"rendered":"

Genomics 101<\/span><\/h1>\n

This module comprises four Units which introduce\/review key concepts in human genetics and lay the groundwork for understanding how genetic variation can lead to health effects, and how those changes may impact other family members. Genomics 101 has four sections, chromosomes, genes and DNA, family history and inheritance patterns, applying genetic testing, and applying family history risk assessment.\u00a0<\/span><\/p>\n

Estimated time: 1 hour 28 minutes<\/span><\/p>\n

1. Chromosomes, Genes, and DNA<\/span>\u00a0<\/span><\/h2>\n

Reviews the structure and function of DNA, to lay the groundwork for understanding how genetic variation can lead to health effects.<\/span>\u00a0<\/span><\/p>\n

Learning Objectives\u00a0<\/span><\/h3>\n
    \n
  • \n
      \n
    • Define genetics vs. genomics<\/span>\u00a0<\/span><\/li>\n
    • Recognize normal chromosome structure\u202f<\/span>\u00a0<\/span><\/li>\n
    • Explain the relationship between chromosomes, DNA, genes, and proteins<\/span>\u00a0<\/span><\/li>\n
    • Contrast categories of genetic variation at the chromosome level and the DNA level<\/span>\u00a0<\/span><\/li>\n
    • Contrast the inheritance patterns of somatic and germline genetic variation<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n

      2. Family History and Inheritance Patterns<\/span>\u00a0<\/span><\/h2>\n

      Discusses how documenting the family history of your patients can improve the ability to quickly identify patterns that could indicate hereditary risk and aid in a quicker path to diagnostics or prevention.<\/span>\u00a0<\/span><\/p>\n

      Learning Objectives<\/h2>\n
        \n
      • \n
          \n
        • Draw a simple family history using standard symbols<\/span>\u00a0<\/span><\/li>\n
        • Identify modes of genetic inheritance presenting in a family<\/span>\u00a0<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n

          3. Applying Genetic Testing<\/span>\u00a0<\/span><\/h2>\n

          Identifies real-world applications of genomics in NP practice. Reviews genetic testing scenarios and provide an explanation of the key concepts of genotype, phenotype, monogenic and polygenic sources of genetic risk for disease.<\/span>\u00a0<\/span><\/p>\n

          Learning Objectives<\/h3>\n
            \n
          • \n
              \n
            • Identify applications of genomics in NP practice<\/span>\u00a0<\/span><\/li>\n
            • List genetic testing scenarios<\/span>\u00a0<\/span><\/li>\n
            • Define the role of monogenic and polygenic sources of genetic risk<\/span>\u00a0<\/span><\/li>\n
            • Connect genotype to phenotype<\/span>\u00a0<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n

              4. Applying Family History Risk Assessment<\/span>\u00a0<\/span><\/h2>\n

              Uses concepts from the first three units to illustrate a framework for a precision health approach caring for a patient and their family. Reviews key questions to ask during a family history assessment and identifies red flags that indicate when genetic testing or a referral to genetics may be beneficial.\u00a0<\/span>\u00a0<\/span><\/p>\n

              Learning Objectives<\/h3>\n
                \n
              • \n
                  \n
                • Define sporadic, multifactorial and hereditary susceptibility to disease using cancer as an example<\/span>\u00a0<\/span><\/li>\n
                • List key questions to ask during family history assessment<\/span>\u00a0<\/span><\/li>\n
                • Identify red flags to suggest when a genetic test or genetics referral may be indicated<\/span>\u00a0<\/span><\/li>\n
                • Examine the mainstream testing approach and subsequent cascade testing in a family<\/span>\u00a0<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n

                   <\/p>\n