Heidi Rehm, Harvard University & BWH - Stanford Big Data 2015

TL;DR

A discussion on community-driven approaches to understanding genomic data, focusing on the clinical side and the use of databases like ClinVar.

Transcript

you so it's a pleasure to be here I'm going to talk a little bit about some of the community driven driven approaches that we're taking to really understand our genome a little more focused on the clinical side of things make sure I've know how to do that there we go so this is just a diagram of thinking about how the Clinton project which I'll tal... Read More

Key Insights

• 😨 The Clinton project focuses on sharing and analyzing genomic data to improve patient care.
• 🤩 ClinVar is a key resource for the project, allowing the community to access and contribute to a curated genomic knowledge base.
• 🏛️ Differences in interpretations of genetic variations exist in the community but can be resolved through consensus-building and expert engagement.
• ❓ Efforts are being made to create guidelines and frameworks to promote consistency in interpreting evidence for variant pathogenicity.
• ❓ Federated networks and centralized hubs are being used to facilitate the sharing of genomic data among different databases and software systems.
• 🤑 The goal is to create a federated network of databases and software systems that enable rich data sharing in healthcare.
• 📽️ The Clinton project and the Matchmaker Exchange project are examples of community-driven initiatives in genomics.

Questions & Answers

Q: What is ClinVar and how does it support the Clinton project?

ClinVar is a variant repository that accepts submissions from the community and provides them to users. It serves as a centralized database for aggregated genetic variant data and links to locus-specific databases for more detailed information.

Q: How concordant are the interpretations of genetic variations in the community?

Approximately 83% of the interpretations in ClinVar are in agreement, while 17% of the interpretations differ. These differences range from pathogenic to benign classifications, creating a need for transparency and second opinions.

Q: How are disagreements in interpretations of genetic variations resolved?

Disagreements are resolved through the exchange and sharing of evidence among submitters. In most cases, differences can be resolved by discussing and aligning classification rules, but occasionally, expert input is needed to reach a consensus.

Q: What guidelines exist for interpreting evidence for variant pathogenicity in Mendelian diseases?

Guidelines have been developed to provide a framework for interpreting evidence for variant pathogenicity in Mendelian diseases. These guidelines are based on expert opinion and aim to create more consistency in the community.

Summary & Key Takeaways

• The Clinton project aims to improve patient care by sharing data from patients, clinicians, laboratories, and researchers to create a curated genomic knowledge base.

• ClinVar is a key resource for the project, serving as a variant repository where data from various sources is aggregated and displayed for the community.

• Differences in interpretations of genetic variations exist in the community, but efforts are being made to resolve them through consensus-building and expert engagement.