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INTEGRATED Medical Genetics CURRICULUM Topic Categories

(A Guide to Criteria and Abilities related to Medical Genetics.)

Phenotype and Natural History

  1. General features of disorder and its progression as would be observed in a large population of affected individuals;
  2. Common, less common, and rare features of disorder as would be observed in a large population of affected individuals.

Disease Etiology ( primary genetic defect(s) )

  1. Gene(s) affected, chromosomal location(s), and the nature of the mutation(s) if known.
  2. Mechanisms that give rise to chromosome abnormalities.
  3. Possible disease variants (locus heterogeneity, allelic heterogeneity, multifactorial, etc.) and possible phenotypes.
  4. Mode(s) of inheritance (e.g. autosomal dominant, autosomal recessive, X-linked, multifactorial, mitochondrial, chromosomal)
  5. Incidence(s) in the general population

Pathogenesis ( process by which genetic defect(s), including chromosomal abnormalities, give rise to the observed phenotype(s) at the molecular, cellular and systems levels )

  1. Affected gene product(s) including their structure(s), normal biochemical and physiological function(s), and the tissue distribution (locations) of the affected gene product(s)
  2. Consequences of the genetic defect(s), including chromosomal abnormalities, at the molecular, cellular and systems level (e.g. metabolic or endocrine pathways affected, physiological or immunological processes disrupted, major organ systems affected, or developmental programs altered, etc.)
  3. Mechanism(s) (metabolic, immunologic, endocrine, physiologic, developmental, etc.) by which the genetic defect(s), including chromosomal abnormalities, give rise to disease

Inheritance Risk

  1. Empiric risk (factors to be considered include population frequency, ethnicity, consanguinity, age, gender, family history, etc.)
  2. Risk of recurrence within a family (factors that could be considered include mode of inheritance, family history, carrier status of parent(s), germline mosaicism, somatic vs germline mutation, expressivity, penetrance, genetic background and environment)

Family, Social, Legal, and Ethical Issues

  1. Patient/family counseling (factors that might be considered include patient and family education, family planning options, cultural and religious values, community standards, and ethical concerns)
  2. Genetic testing (options; psychological, legal, and social consequences; issues of medical insurance and insurability)
  3. Prenatal screening (see also genetic testing)
  4. Legal issues and issues of insurance and insurability
  5. Privacy issues
  6. Community and other resources (e.g., the internet)


  1. Basis for the diagnosis/detection (e.g. family history, clinical signs and symptoms, specific biochemical or genetic tests, prenatal testing, or routine postnatal biochemical or genetic screening)
  2. Management objectives (curative, palliative, preventive)
  3. Possible interventions/treatments (e.g. surgery, nutritional supplementation, gene replacement, enzyme/protein replacement, counseling/ psychiatric intervention, etc.)
  4. Genetic counseling issues
  5. Genetic testing (Is testing recommended and for what purpose? What genetic tests are available? What are the limitations of genetic testing or tests?)
  6. Prognosis and recommendations for follow-up and long-term care
  7. Patient education

Clinical Cases

  1. Include a pedigree whenever possible.
  2. Include information related to genetic factors of the case (see Phenotype and Natural History, Disease Etiology, Pathogenesis, Inheritance Risk).
  3. Interpret H&P findings as indications of genetic factors where appropriate.
  4. Justify genetic screening and/or testing recommendations.
  5. Describe management plan addressing relevant issues (see Management).



  2001 Loyola University Chicago Stritch School of Medicine. All rights reserved.
Please send questions or comments to: Carolyn Jones, M.D., Ph.D.
Updated: 9/07/06 ... Created: 9/07/06