A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
| Autor: | Amy K. Johnson, Heidi L. Rehm, Madhuri Hegde, Kevin M. Bowling, C. Sue Richards, Wendy K. Chung, Gail P. Jarvik, Susan M. Wolf, Karen E. Weck, Michele C. Gornick, Joshua L. Deignan, Brian H. Shirts, James P. Evans, Soma Das, Sumit Punj, Lindsey Mighion, Sharon E. Plon, Massimo Morra, Julianne M. O’Daniel, Arezou A. Ghazani, Katrina A.B. Goddard, Sherri J. Bale, Tina Hambuch, Sha Tang, Gregory M. Cooper, Lucia A. Hindorff, Kelly D. Farwell Hagman, Ingrid A. Holm, Elizabeth C. Chao, Heather M. McLaughlin, Laura K. Conlin, Nancy B. Spinner, Avni Santani, David P. Bick, Yaping Yang, Jonathan S. Berg, Laura M. Amendola, Michael O. Dorschner |
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| Rok vydání: | 2017 |
| Předmět: |
methods
standards [Sequence Analysis DNA] Research Report 0301 basic medicine Best practice Disclosure 030105 genetics & heredity Biology Bioinformatics Article genetic testing ethics standards [Laboratories] 03 medical and health sciences Documentation laboratory standards Surveys and Questionnaires Medicine and Health Sciences Humans standards [Genetic Testing] clinical reporting Exome Genetics (clinical) Exome sequencing Multiple choice Incidental Findings Medical education Information Dissemination Sequence Analysis DNA 3. Good health genome sequencing Data sharing 030104 developmental biology Workflow Sample Size Practice Guidelines as Topic Laboratories exome sequencing Personal genomics |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M; Bale, Sherri J; Berg, Jonathan S; Bick, David; et al.(2017). A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.. Genetics in medicine : official journal of the American College of Medical Genetics, 19(5), 575-582. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/36w1z6tw |
| ISSN: | 1098-3600 |
| Popis: | While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant variants. This study aimed to examine the workflow and reporting procedures among US laboratories to highlight shared practices and identify areas in need of standardization. Surveys and follow-up interviews were conducted with laboratories offering exome and/or genome sequencing to support a research program or for routine clinical services. The 73-item survey elicited multiple choice and free-text responses that were later clarified with phone interviews. Twenty-one laboratories participated. Practices highly concordant across all groups included consent documentation, multiperson case review, and enabling patient opt-out of incidental or secondary findings analysis. Noted divergence included use of phenotypic data to inform case analysis and interpretation and reporting of case-specific quality metrics and methods. Few laboratory policies detailed procedures for data reanalysis, data sharing, or patient access to data. This study provides an overview of practices and policies of experienced exome and genome sequencing laboratories. The results enable broader consideration of which practices are becoming standard approaches, where divergence remains, and areas of development in best practice guidelines that may be helpful.Genet Med advance online publication 03 Novemeber 2016. |
| Databáze: | OpenAIRE |
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