Using information gleaned from a person’s genome can assist clinicians in customizing their patient’s case management and increase the likelihood of a positive outcome. While NCBI has long had resources for biologists to explore what is known about genomes, genes and genetic variations, we have also added resources designed to assist the clinical community in understanding the impact of genetic variations in their patients.  Using real-world cases, this workshop will show you how to use free, high quality, online resources to assist you with your patient care.

At the end of this workshop, you will:

Understand the relevance of genetic information for clinical practice and how it can impact patient outcomes for: 

• Disorder diagnosis for case management
• Pharmacogenetic assessment for drug selection & dosing

Be able to find information helpful for case management by:

• Searching for information about a gene-related disorder in MedGen
• Finding an appropriate clinical genetic test in GTR
• Learning about a specific genetic variant in ClinVar
• Linking to key literature sources helpful for variant-based case management

Please note that we will not be discussing clinical practice guidelines or best practices for use of genetics in clinical practice, but focusing on using resources to find helpful information for clinical decision support.

On May 23, 2023, we are offering a workshop on Discovering Molecular Mechanisms of Genetic Disorders with NCBI Resources. If you are a researcher interested in learning to trace a patient’s genetic variant from sequence to biological impact at the molecular level, please consider applying for that workshop. 

Due to curricular and technical limits, we’ve capped the number of spots to provide the best workshop experience. If you register to apply, you will be notified of your application status 2 weeks before the scheduled event.

We recommend having access to a stable internet connection and modern web browser on a laptop or desktop computer to be able to successfully participate in the hands-on exercises.

Please see our FAQs page for more information and if you still have questions about the NCBI Outreach Events program or this specific workshop, email us at workshops@ncbi.nlm.nih.gov .