Title |
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
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Published in |
Genetics in Medicine, March 2018
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DOI | 10.1038/gim.2018.37 |
Pubmed ID | |
Authors |
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, Clara L Gaff, Susan M White, Melbourne Genomics Health Alliance |
Abstract |
PurposeThe purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.MethodsRapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to implementation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed.ResultsOf 40 enrolled patients, 21 (52.5%) received a diagnosis, with median time to report of 16 days (range 9-109 days). A result was provided during the first hospital admission in 28 of 36 inpatients (78%). Clinical management changed in 12 of the 21 diagnosed patients (57%), including the provision of lifesaving treatment, avoidance of invasive biopsies, and palliative care guidance. The cost per diagnosis was AU$13,388 (US$10,453). Additional cost savings from avoidance of planned tests and procedures and reduced length of stay are estimated to be around AU$543,178 (US$424,101). The clear relative advantage of rWES, joint clinical and laboratory leadership, and the creation of a multidisciplinary "rapid team" were key to successful implementation.ConclusionRapid genomic testing in acute pediatrics is not only feasible but also cost-effective, and has high diagnostic and clinical utility. It requires a whole-of-system approach for successful implementation.GENETICS in MEDICINE advance online publication, 15 March 2018; doi:10.1038/gim.2018.37. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Australia | 22 | 22% |
United States | 18 | 18% |
United Kingdom | 14 | 14% |
Ireland | 3 | 3% |
Germany | 2 | 2% |
Ecuador | 1 | <1% |
Israel | 1 | <1% |
New Zealand | 1 | <1% |
Hong Kong | 1 | <1% |
Other | 11 | 11% |
Unknown | 28 | 27% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 55 | 54% |
Scientists | 40 | 39% |
Practitioners (doctors, other healthcare professionals) | 5 | 5% |
Science communicators (journalists, bloggers, editors) | 2 | 2% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 122 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 22 | 18% |
Student > Master | 17 | 14% |
Other | 13 | 11% |
Student > Ph. D. Student | 10 | 8% |
Student > Bachelor | 6 | 5% |
Other | 19 | 16% |
Unknown | 35 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 26 | 21% |
Biochemistry, Genetics and Molecular Biology | 21 | 17% |
Social Sciences | 7 | 6% |
Agricultural and Biological Sciences | 6 | 5% |
Nursing and Health Professions | 4 | 3% |
Other | 16 | 13% |
Unknown | 42 | 34% |