Translational Genomics Program
Improving Genetic Testing
Eric W. Klee, Ph.D. Director
The Mayo Clinic Center for Individualized Medicine has launched a genomics research program specifically focused on improving the diagnostic yield from genetic testing. Using a variety of new analytical methods, additional forms of genetic tests, and employing a variety of laboratory-based functional studies, the Center seeks answers for patients for whom whole-exome sequencing was not sufficient to confidently return a genetic diagnosis.
Advancements in biomedical technologies have transformed genetic testing for rare diseases. Health care providers have the ability to sequence every gene in a patient and appropriate family members, and use emerging bioinformatics analytical algorithms and scientific knowledge to hone in on the genetic changes often causal in previously undiagnosed disease.
This testing paradigm is commonly referred to as whole-exome sequencing for patients who are on a Diagnostic Odyssey, and has led to the resolution of a genetic diagnosis in many thousands of patients who were previously left without a clear explanation for their symptoms.
The utility of this testing has become so powerful that institutions across the world, including Mayo Clinic, have adopted this approach to testing patients with suspected rare genetic disease.
Despite the amazing impact this testing has had on some patients, the diagnostic yield from the current approach has been estimated at approximately 25 percent. This means roughly three-fourths of the patients tested fail to receive a genetic diagnosis.
The genomics research program seeks to close this gap in diagnosis of genetic disorders. The success of this program is based not only on the transformative vision of Mayo’s Center for Individualized Medicine, but on the Center's unique ability to integrate cutting-edge analytical processes and laboratory research with world-leading clinical expertise.
- A Journey of Hope – Karter's Story
- Diagnosing Rare Diseases Through Individualized Medicine
- Genetic Testing’s Impact on Patient Care – Paige’s Story (YouTube video)
- Pharmacogenomic Findings from Clinical Whole Exome Sequencing of Diagnostic Odyssey Patients (YouTube video)
Collectively, Mayo authors publish more than 5,000 articles a year in biomedical journals.
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Citations are from PubMed, a service of the U.S. National Library of Medicine. PubMed is comprised of references and abstracts from MEDLINE, life science journals and online books: