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Health See other Health Articles Title: Whole-Genome Diagnostic Approach: Partial Success Realized Medscape: Editors' Recommendations Whole-Genome Sequencing: Clinical Guidelines for Europe Cutting-Edge DNA Sequencing Used to Diagnose Unknown Disease Integrative Personal 'Omics' Profile: Medicine's Future? Drug & Reference Information Genetics of Neurofibromatosis Genetics of Age-Related Macular Degeneration Genetics of LDL Cholesterol Despite achieving a definitive diagnosis for only a minority of patients, researchers see value in taking a whole-genome sequencing (WGS) approach to diagnosis in a series of children and adults. Howard J. Jacob, PhD, from the Human and Molecular Genetic Center at the Medical College of Wisconsin in Milwaukee, and colleagues report their experience in applying WGS to 26 patients in a commentary published in the July 17 issue of Science Translational Medicine. No longer relegated to "someday," more widespread clinical adoption is now possible, given the dropping price of exome and genome sequencing, the authors write. However, a mix of successes, challenges, and unanswered questions emerged when Dr. Jacob and coauthors converted a sequencing laboratory at a medical college to a fully functioning clinical WGS program 3 years ago. Buoyed by the success of their first case, a pediatric patient who received a cord blood transplant because of a specific gene mutation (and whose symptoms of a severe gastrointestinal disorder subsequently resolved), the researchers applied WGS sequencing to another 23 children and 2 adults with undiagnosed diseases. This strategy yielded a successful diagnosis in 27% of the patients, a potential diagnosis in 34%, and failures in 39%. "Our initial concerns were cost and data accuracy, but the major challenges turned out to be the logistics of delivering genome sequence information to clinicians, how clinicians use the data, and how patients and their families deal with the secondary (incidental) findings," the authors write. Dr. Jacob and coauthors also address a common criticism among clinicians who believe genetic findings have minimal or no utility in the absence of definitive therapy. "Our clinical program is built around the principal idea that making a diagnosis is essential, even in cases where the results may not lead to better treatment. The long-standing experience of clinical genetics has been that a diagnosis can change the management plan for a patient even in the absence of specific therapeutic choices." Many unanswered questions remain, the authors add. What genetic information should go in the medical record? What should be done with unrelated, secondary genetic findings revealed by WGS? What kind of reimbursement strategy is optimal as clinical adoption becomes more widespread? Asked by Medscape Medical News to comment, Ali Torkamani, PhD, Director of Genome Informatics and Drug Discovery at the Scripps Translational Science Institute in La Jolla, California, said, "The publication is an excellent summary of the power that [WGS] has in terms of molecular genetic diagnosis and personal, if not clinical, utility. While barriers to the deployment of genome sequencing in a clinical setting remain, I believe this was a powerful demonstration of the promise and utility of genome sequencing in clinical practice, especially for rare diseases." He added, "A key challenge is the compilation and dissemination of results to patients and physicians in a manner that is understandable, informs actionability, and is comprehensive without being overwhelming." Dr. Jacob has no relevant financial disclosures. Dr. Torkamani is a cofounder and own shares of Cypher Genomics, a start-up company working on the same type of genetic analyses. Sci Transl Med. 2013;5:194cm5. Post Comment Private Reply Ignore Thread
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