Pedigree Construction Assignment

Family History and Pedigree Construction Project

Assignment Purpose: Family history can reveal critical information necessary to ascertain correct diagnosis(es) and management plan development. Understanding how to garner accurate and pertinent information during patient and/or family interviews is essential in having useful information. Pedigrees (genograms) are schematic versions of family histories. They allow us to quickly scan generations, family members (immediate and remote) to determine symptoms, phenotypical, syndrome, disease, etc. presence or absence. This assignment allows students to review a mock family history and then create a pedigree reflecting the contained information.

1. Review the attached Fabry Disease family history scenario.
2. Pedigree Construction: Pedigree construction software is not required for this assignment. You may elect to utilize PowerPoint, pedigree/genogram software, or hand draw the pedigree. RFFlow has a free 30-day trial version of its software. This is not specifically genetic pedigree software; however, you can utilize the drawing features to create one.

If you elect to draw the pedigree, please ensure that it is neatly drawn with no cross through marks. Pedigrees submitted with illegible handwriting or cross-through marks will not be graded and will receive a zero. You are welcome to utilize legends to denote symptoms/disease processes within your pedigree(s).

Do not, however, add the symbols for males, females, and other standard symbols seen in pedigrees. Legends should be used for specific disease states, conditions, etc.

Construct a pedigree reflective of what is noted in the mock family history while also using a comprehensive symptoms-based approach.

This helps you understand the process. A comprehensive symptoms-based approach means that you include *all* family history, signs/symptoms, and other available information in your pedigree. Focused pedigrees focus only on signs/symptoms/family history associated with a specific disorder.

As you begin practice, you can use the more specific disease specific pedigree construction approach.

Do not assume that symptoms are not important.

Focused pedigrees will be given a zero.

Please make sure you appropriately identify the proband and/or consultand within the pedigree with the appropriate nomenclature.

Use the rubric attached to ensure 5 points will be given.