Title |
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
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Published in |
Genetics in Medicine, March 2017
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DOI | 10.1038/gim.2016.224 |
Pubmed ID | |
Authors |
Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L. Toler, Emily Fassi, Elise Fiala, Sarah Brown, Charles W. Goss, Marcia Willing, Dorothy K. Grange, Beth A. Kozel, Marwan Shinawi |
Abstract |
Evaluation of the clinician's role in the optimal interpretation of clinical exome sequencing (ES) results. Retrospective chart review of the first 155 patients who underwent clinical ES in our Exome Clinic and direct interaction with the ordering geneticist to evaluate the process of interpretation of results. The most common primary indication was neurodevelopmental problems (~66%), followed by multiple congenital anomalies (~10%). Based on sequencing data, the overall diagnostic yield was 36%. After assessment by the medical geneticist, incorporation of detailed phenotypic and molecular data, and utilization of additional diagnostic modalities, the final diagnostic yield increased to 43%. Seven patients in our cohort were included in initial case series that described novel genetic syndromes, and 23% of patients were involved in subsequent research studies directly related to their results or involved in efforts to move beyond clinical ES for diagnosis. Clinical management was directly altered due to the ES findings in 12% of definitively diagnosed cases. Our results emphasize the usefulness of ES, demonstrate the significant role of the medical geneticist in the diagnostic process of patients undergoing ES, and illustrate the benefits of postanalytical diagnostic work-up in solving the "diagnostic odyssey." Genet Med advance online publication 02 March 2017Genetics in Medicine (2017); doi:10.1038/gim.2016.224. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 11 | 22% |
United States | 9 | 18% |
Colombia | 2 | 4% |
Argentina | 1 | 2% |
Mexico | 1 | 2% |
Australia | 1 | 2% |
Italy | 1 | 2% |
Saudi Arabia | 1 | 2% |
Netherlands | 1 | 2% |
Other | 1 | 2% |
Unknown | 22 | 43% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 27 | 53% |
Scientists | 18 | 35% |
Science communicators (journalists, bloggers, editors) | 3 | 6% |
Practitioners (doctors, other healthcare professionals) | 3 | 6% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 99 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 16 | 16% |
Other | 15 | 15% |
Student > Master | 14 | 14% |
Student > Ph. D. Student | 14 | 14% |
Student > Bachelor | 8 | 8% |
Other | 12 | 12% |
Unknown | 20 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 25 | 25% |
Medicine and Dentistry | 24 | 24% |
Agricultural and Biological Sciences | 11 | 11% |
Neuroscience | 4 | 4% |
Economics, Econometrics and Finance | 2 | 2% |
Other | 9 | 9% |
Unknown | 24 | 24% |