Dataset Information

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

ABSTRACT: PURPOSE: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. METHODS: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. RESULTS: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. CONCLUSION: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.

SUBMITTER: O'Daniel JM

PROVIDER: S-EPMC5415437 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel Julianne M JM McLaughlin Heather M HM Amendola Laura M LM Bale Sherri J SJ Berg Jonathan S JS Bick David D Bowling Kevin M KM Chao Elizabeth C EC Chung Wendy K WK Conlin Laura K LK Cooper Gregory M GM Das Soma S Deignan Joshua L JL Dorschner Michael O MO Evans James P JP Ghazani Arezou A AA Goddard Katrina A KA Gornick Michele M Farwell Hagman Kelly D KD Hambuch Tina T Hegde Madhuri M Hindorff Lucia A LA Holm Ingrid A IA Jarvik Gail P GP Knight Johnson Amy A Mighion Lindsey L Morra Massimo M Plon Sharon E SE Punj Sumit S Richards C Sue CS Santani Avni A Shirts Brian H BH Spinner Nancy B NB Tang Sha S Weck Karen E KE Wolf Susan M SM Yang Yaping Y Rehm Heidi L HL

Genetics in medicine : official journal of the American College of Medical Genetics 20161103 5

<h4>Purpose</h4>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.<h4>Methods</h4>Surveys and follow-up interviews were conducted ...[more]

PMID: 27811861

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Project description:PurposeThe success of vasectomy is determined by the outcome of a post-vasectomy semen analysis (PVSA). This article describes a step-by-step procedure to perform PVSA accurately, report data from patients who underwent post vasectomy semen analysis between 2015 and 2021 experience, along with results from an international online survey on clinical practice.Materials and methodsWe present a detailed step-by-step protocol for performing and interpretating PVSA testing, along with recommendations for proficiency testing, competency assessment for performing PVSA, and clinical and laboratory scenarios. Moreover, we conducted an analysis of 1,114 PVSA performed at the Cleveland Clinic's Andrology Laboratory and an online survey to understand clinician responses to the PVSA results in various countries.ResultsResults from our clinical experience showed that 92.1% of patients passed PVSA, with 7.9% being further tested. A total of 78 experts from 19 countries participated in the survey, and the majority reported to use time from vasectomy rather than the number of ejaculations as criterion to request PVSA. A high percentage of responders reported permitting unprotected intercourse only if PVSA samples show azoospermia while, in the presence of few non-motile sperm, the majority of responders suggested using alternative contraception, followed by another PVSA. In the presence of motile sperm, the majority of participants asked for further PVSA testing. Repeat vasectomy was mainly recommended if motile sperm were observed after multiple PVSA's. A large percentage reported to recommend a second PVSA due to the possibility of legal actions.ConclusionsOur results highlighted varying clinical practices around the globe, with controversy over the significance of non-motile sperm in the PVSA sample. Our data suggest that less stringent AUA guidelines would help improve test compliance. A large longitudinal multi-center study would clarify various doubts related to timing and interpretation of PVSA and would also help us to understand, and perhaps predict, recanalization and the potential for future failure of a vasectomy.

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Dataset Information

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

Publications

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

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