Literature DB >> 31292527

The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service.

Andrew Paul Fennell1,2, Matthew Frank Hunter3,4, Gregory Philip Corboy5,6,7.   

Abstract

PURPOSE: Clinical genetics is an evolving specialty impacted by the availability of increasingly sophisticated investigational technologies. Methods for monitoring the changes in workload and workflow are necessary to ensure adequate service resourcing.
METHODS: A literature search of known workload and workflow studies was completed, identifying metrics of value. A framework of metrics to allow consistent capture in clinical genetics practice was developed. This framework was then applied to local general genetics service data to evaluate recent changes in service delivery.
RESULTS: Literature regarding service delivery metrics in clinical genetics services is limited and inconsistent in application. The metric framework generated is a useful tool for consistent and ongoing evaluation of general genetics services. Through application of the framework, new service delivery trends and significant changes in workload were identified.
CONCLUSION: Studies of clinical genetics service delivery suffer from the use of inconsistent metrics. This framework will allow for monitoring of changes to service delivery, caseload volume, caseload complexity, and workforce over time. Local data presented demonstrate the significant effect that implementing clinical genomic sequencing has had on clinical service delivery. Applying this framework produces a comprehensive service characterization, enabling funding bodies to justify resourcing that addresses the growing demand of clinical genetics.

Entities:  

Keywords:  genetics; metrics; service delivery; workforce

Mesh:

Year:  2019        PMID: 31292527     DOI: 10.1038/s41436-019-0602-2

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  3 in total

1.  The economics of clinical genetics services. II. A time analysis of a medical genetics clinic.

Authors:  B A Bernhardt; J Weiner; E C Foster; J E Tumpson; R E Pyeritz
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

2.  The economics of clinical genetics services. I. Preview.

Authors:  R E Pyeritz; J E Tumpson; B A Bernhardt
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

3.  The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting.

Authors:  B A Bernhardt; R E Pyeritz
Journal:  Am J Hum Genet       Date:  1989-02       Impact factor: 11.025

  3 in total
  2 in total

1.  What's in a Name? Parents' and Healthcare Professionals' Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes.

Authors:  Jacqueline D Hunter; Eden G Robertson; Kate Hetherington; David S Ziegler; Glenn M Marshall; Judy Kirk; Jonathan M Marron; Avram E Denburg; Kristine Barlow-Stewart; Meera Warby; Katherine M Tucker; Brittany M Lee; Tracey A O'Brien; Claire E Wakefield
Journal:  J Pers Med       Date:  2022-08-18

2.  Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Authors:  Heidi Cope; Rebecca Spillmann; Jill A Rosenfeld; Elly Brokamp; Rebecca Signer; Kelly Schoch; Emily G Kelley; Jennifer A Sullivan; Ellen Macnamara; Sharyn Lincoln; Katie Golden-Grant; James P Orengo; Gary Clark; Lindsay C Burrage; Jennifer E Posey; Jaya Punetha; Amy Robertson; Joy Cogan; John A Phillips; Julian Martinez-Agosto; Vandana Shashi
Journal:  Mol Genet Genomic Med       Date:  2020-07-30       Impact factor: 2.183

  2 in total

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