Making Sense of Uncertainty Kit

Expose your students to the use of human genome sequencing data in medicine by allowing them to take on the role of clinical scientists. Students examine multiple pieces of evidence to determine whether a genetic variant is likely to cause a patient's symptoms. Students must support their claim using evidence and explain their reasoning. Each student group is assigned 1 of 5 case studies that describes the patient's symptoms, family history, past genetic testing, and the genetic variant of interest. Accompanying each case study are 9 evidence cards, each of which contains a different piece of information about the variant.

Students' performance objectives are to:

• Examine evidence that not all genetic change causes disease and discover that in fact most changes have no significant impact on health and disease
• Examine the difference between primary and secondary findings in a genomic testing setting
• Evaluate a variety of scientific evidence supporting whether a variant is "pathogenic" or "benign"
• Recognize that the impact of a variant may not yet be fully understood, and that in such a case the variant is classified as a "variant of uncertain significance"
• Use evidence to determine the pathogenicity of a genetic variant and to articulate arguments supporting that determination

Kit is designed for a class of 30 students working in groups and includes a digital slide presentation and a script for guiding students through the activity. The kit also includes free 1-year access to digital resources that support 3-dimensional instruction for NGSS.