Skip to main content

ISCC Case Studies Working Group

Case Studies

A doctor and a couple discussing their medical condition. Photo courtesy of NCI.Clinicians often best understand the value of new information in context through case-based learning. The genetic and genomic case studies created by the ISCC Case Studies Working Group members represent examples of scenarios physicians are likely to encounter in practice. These cases are designed to present pertinent information, highlight decision points, provide background content about why certain decisions are appropriate, and link to the evidence base of knowledge and guidelines currently available. They incorporate competencies and entrustable professional activities identified by the ISCC's Competency Working Group.

These case studies also include suggestions for practice-based improvement activities that could be used for internal quality improvement activities and ultimately for maintenance of certification based on anticipated work of the ISCC's Specialty Board Working Group.

ISCC members are encouraged to assess their specialty practice and to develop case studies involving genomic medicine that would be highly relevant to their members, in collaboration with the Working Group. A template and an example are provided for getting started. 

ISCC Working Group Co-Chairs: Wendy Rubinstein and Reed Pyeritz.

Proposed Use Case Template and ExamplePDF file
An outline to follow for creation of a case study scenario.

The existing case studies are listed at the links below: 

Title: HLA-B alleles and adverse events related to use of carbamazepine and allopurinol PDF file
Type of Case Study: Genomic-based therapeutics, Pharmacogenomic
In collaboration with the National Human Genome Research Institute

Title: Mitochondrial DNA mutation A1555G and aminoglycoside-induced hearing loss and deafnessPDF file
Type of Case Study: Gene-Based Intervention for Aminoglycoside Sensitivity Pharmacogenomics/Family History.
In collaboration with American Academy of Pediatrics and the American Academy of Otolaryngology-Head and Neck Surgery

Title: Utilizing family history to identify Lynch SyndromePDF file
Type of Case Study: Family History
In collaboration with the National Cancer Institute

To view the PDF document(s) on this page, you will need Adobe Reader. Download Adobe Reader

Top of page

Last Updated: Ma7 1, 2017