Event Description:
Rapid expansion of genetic testing has led to the more widespread use of genetic sequencing, such as whole exome testing, for clinical and research purposes. The digitization of the medical record system has led to the potential for identifying individuals with rare genetic variants to optimize clinical care for these individuals, and for research aimed at understanding pathophysiology of rare diseases, treatment strategies, and other clinical and translational outcomes. However, the logistics of identifying clinical and research subjects based on genetic testing results is challenging. In this discussion we will highlight national strategies aimed at using electronic health records for identifying individuals with target genetic testing results as well as our own local experience.
Event Goals:
- Review the Brain Gene Registry study and Genome Connect as genetic registries available for research.
- Understand obstacles to patient identification from the EMR based on genetic testing results.
- Understand local and national strategies used to identify patients with target genetic variants.