Research Tools

This short explanation card defines an inherited mutation and describes the information that parents might find on their child's inherited mutation report.

This published study protocol for the MedSeq trials includes a description of the study design; recruitment, enrollment, and sample size plan; patient exclusion/inclusion criteria; and process of interpreting WGS results and delivering them to physicians. It also includes an example of a general genome report as well as a cardiac risk report.

This document is the study protocol of the Institutional and Professional Impact of Genomic Sequencing in Cancer Care study. Appendices include the following: Email Notification to Oncologists about Study Implementation Information Sessions, Email Invitation to Oncologists to Participate in Cognitive Testing, Email Invitation to Attend an Initial Clinical Genomics Evaluation Committee Meeting, Physician Baseline Survey, Email Notification to Oncologists to Complete the Baseline Survey, Follow up Email Notification to Oncologists to Complete the Baseline Survey, New Physician Post-disclosure Survey – Informative Results, Old Physician Post-disclosure Survey, Physician Post-Disclosure Survey – Uninformative Results, Email Notification to Oncologists to Complete the Post-disclosure Survey, Reminder Email Notification to Oncologists to Complete the Post-disclosure Survey, Email Invitation for the Baseline Qualitative Interview, and Email Invitation for the One-Year Follow up Qualitative Interview.