ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
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.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol.BMJ open · 2026Article
- Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.NPJ genomic medicine · 2026Article
- From tradition to transformation: evolving models of care in clinical genetics.Current opinion in pediatrics · 2025Review
- Safe and effective genomic medicine implementation in hospitals: a scoping review.BMJ open quality · 2025Article
- Delivering Trio Germline Whole Genome Sequencing to Patients Newly Diagnosed With Childhood Cancer: Healthcare Professionals' Perspectives of the PREDICT Study.Cancer medicine · 2025Article
- Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population.Journal of personalized medicine · 2025Article
- What matters to parents? A scoping review of parents' service experiences and needs regarding genetic testing for rare diseases.European journal of human genetics : EJHG · 2023Article
- What's in a Name? Parents' and Healthcare Professionals' Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes.Journal of personalized medicine · 2022Article
- Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeClinical 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.
methodsA 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.
resultsLiterature 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.
conclusionStudies 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.