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Updated: Apr 16, 2026
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Published on: June 15, 2011
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A genome sequencing program for novel undiagnosed diseases.
Cinnamon S Bloss1, Ashley A Scott-Van Zeeland2, Sarah E Topol1
1Scripps Genomic Medicine, Scripps Health, San Diego, California, USA.
Summary
Genome sequencing aids in diagnosing rare genetic diseases, uncovering new gene-disease links, and guiding treatment for patients with idiopathic genetic disorders.
Area of Science:
- Genomics
- Medical Genetics
- Rare Diseases
Background:
- Idiopathic genetic diseases present diagnostic challenges.
- Molecular genetic diagnosis is crucial for understanding and treating rare conditions.
Purpose of the Study:
- To discover novel gene-disease relationships using genome sequencing.
- To provide molecular genetic diagnosis and treatment guidance for rare diseases.
- To describe the operational protocol and initial results of the Idiopathic Diseases of Man (IDIOM) study.
Main Methods:
- 121 cases underwent initial review, with 59 proceeding to a second-tier clinician-scientist panel.
- 17 patients and their families were enrolled in the study.
- Genome sequencing integrated with clinical assessment and multidisciplinary review was employed.
Main Results:
- 60% of cases yielded a plausible molecular diagnosis; 18% achieved a confirmed diagnosis.
- Two confirmed cases identified novel gene-disease relationships.
- All confirmed cases led to new clinical management strategies based on genetic findings.
Conclusions:
- Genome sequencing offers significant clinical benefits for idiopathic genetic diseases.
- It aids in diagnosing known rare conditions and identifying new genetic disorders.
- Genetic findings facilitate tailored clinical management strategies.
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