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Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28,
Heather J Howard1, Arthur Beaudet, Vera Gil-da-Silva Lopes
1Human Variome Project, Florey Neurosciences Institute, Carlton, Victoria, Australia.
American Journal of Medical Genetics. Part A
|September 20, 2012
Summary
Establishing Locus-Specific Databases (LSDBs) with expert curators is crucial for realizing genomic sequencing benefits. An internationally coordinated effort, supported by bioinformatics and regulation, is key to managing genetic data effectively.
Area of Science:
- Genomics
- Bioinformatics
- Genetic Medicine
Background:
- Advances in next-generation sequencing present opportunities and challenges for genetic analysis.
- Realizing the full potential of genomic data requires structured approaches to mutation information.
- Genetic counselors face increasing complexity in interpreting sequencing results.
Framework:
- The establishment of Locus-Specific Databases (LSDBs) is essential for organizing genomic information.
- An international, coordinated approach is proposed, leveraging disease-specific organizations.
- Local contributions from under-resourced environments are valuable and can scale.
Implementation:
- Development of bioinformatic tools is critical for sifting and integrating diverse data.
- Regulation of data providers, including mandatory submission to central databases, is recommended.
- International agreement on LSDB governance and funding is necessary.
Implications:
- Effective LSDBs will enable humanity to benefit from the molecular genetic revolution.
- The Human Variome Project is positioned to coordinate these efforts.
- Recommendations are provided for the Human Variome Project based on expert discussions.
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