Article

Expansion of clinical genetic testing since the completion of the human genome project

2024-10-18

Abstract excerpt

The sequencing of the first human genome led to expectations of the widespread use of genetics in medicine. However, assessing the true impact of genetic testing on clinical practice is challenging due to the lack of integration in the electronic health record (EHR). We extracted clinical genetic tests from the EHRs of over 1.8 million patients seen at Vanderbilt University Medical Center from 2002 to 2022, using...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 06b9c4fa-4dd8-56cf-8522-b43d4152803c
DOI: 10.1101/2024.10.17.24315685

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Expansion of clinical genetic testing since the completion of the human genome projectDOI 10.1101/2024.10.17.24315685Read

Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.Semantic proximity Read

Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing.Semantic proximity Read

Phenotypic signatures in clinical data enable systematic identification of patients for genetic testingSemantic proximity Read

Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 PatientsSemantic proximity Read

An algorithm to identify patients with rare genetic disorders and its real-world data applicationSemantic proximity Read

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)Semantic proximity Read

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)Semantic proximity Read

Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional studySemantic proximity Read

Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 PatientsSemantic proximity Read

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disordersSemantic proximity Read

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.Semantic proximity Read

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genesSemantic proximity Read