Family history and pedigree analysis

 

Family history and pedigree analysis are used to identify the patterns and probability of inheritance.  A pedigree is a family tree that uses standardized symbols to indicate relationships and individuals affected with medical conditions.  This visual tool facilitates analysis of inheritance patterns.        

However, an unremarkable family history cannot rule out a genetic condition. Patients with de novo variants will have absent family histories.  Additionally, patients with recessive conditions will often have non-contributory family histories especially when there is no consanguinity.         

The collection of a three-generation family history and administration of a validated family history screening questionnaire* are recommended for all patients where feasible.  

 
 
  • Information to collect in a family history (p. 55-57)
  • Instructions for drawing a pedigree
 
  • This questionnaire uses family history to identify patients at increased risk of cancer, heart disease and diabetes
  • Further assessment of family history is required for patients at increased risk
 
NHS Health Education England, Genomics Education Programme
  • Video tutorial on how to draw a family history (pedigree)
  • FAQs and family pedigree template under resources

 

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