Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.

Clinical therapeutics - 1 Aug 2023

Ungar Wendy J, Hayeems Robin Z, Marshall Christian R, Gillespie Meredith K, Szuto Anna, Chisholm Caitlin, James Stavropoulos D, Huang Lijia, Jarinova Olga, Wu Vercancy, Tsiplova Kate, Lau Lynnette, Lee Whiwon, Venkataramanan Viji, Sawyer Sarah, Mendoza-Londono Roberto, Somerville Martin J, Boycott Kym M

Abstract excerpt

PURPOSE: Although costly, genome-wide sequencing (GWS) detects an extensive range of variants, enhancing our ability to diagnose and assess risk for an increasing number of diseases. In addition to detecting variants related to the indication for testing, GWS can detect secondary variants in BRCA1, BRCA2, and other genes for which early intervention may improve health. As the list of secondary findings grows,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Cost-Benefit Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BRCA1 gene

Share to BRCA2 gene

Share to Genetic Diseases, Inborn

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 37453830
DOI: 10.1016/j.clinthera.2023.06.004

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.PMID 37453830Read ↗

Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.Semantic proximity Read ↗

Report – Cost and Clinical Utility of WES and WGS in pediatric patients with suspected genetic diseaseSemantic proximity Read ↗

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in ScotlandSemantic proximity Read ↗

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.Semantic proximity Read ↗

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisSemantic proximity Read ↗

Genetic findings and health care utilization among individuals undergoing population genomic screening for actionable hereditary disorders.Semantic proximity Read ↗

Downstream Revenue Generated by Patients With Hereditary Cancer in the Multigene Panel Testing Era.Semantic proximity Read ↗

Carrier screening by next‐generation sequencing: health benefits and cost effectivenessSemantic proximity Read ↗

Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment.Semantic proximity Read ↗

Cascade health service use in family members following genetic testing in children: a scoping literature reviewSemantic proximity Read ↗

Economic evaluation of next-generation sequencing techniques in diagnosis of genetic disorders: A systematic review.Semantic proximity Read ↗

Measuring disease likelihood in genomic ascertainment.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.