Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2018
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.
Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 21 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.Frontiers in public health · 2021Pooled it
- Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2020Trial
- The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.European journal of human genetics : EJHG · 2026Review
- Article
- Implementation of genetic testing for heritable cardiac conditions: A scoping review.Genetics in medicine open · 2025Review
- The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.American journal of human genetics · 2024Article
- A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.Genetics in medicine open · 2024Article
- Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.Pediatrics · 2023Article
- Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study.Circulation. Genomic and precision medicine · 2022Article
- Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- A Cost-Consequence Analysis of PreemptiveJournal of personalized medicine · 2021Article
- Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.NPJ genomic medicine · 2021Article
- Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.Journal of medical Internet research · 2020Article
- Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and XgTransfusion · 2019Article
- Integrating Genomics into Healthcare: A Global Responsibility.American journal of human genetics · 2019Article
- Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2018Article
- A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.PLoS medicine · 2018Article
- Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study.The Lancet. Haematology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
Abstract
purposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).
methodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months.
resultsThe incremental cost per patient of WGS testing was $5,098 in cardiology settings and $5,073 in primary care settings compared with family history alone. Mean 6-month downstream costs did not differ statistically between the control and WGS arms in either setting (cardiology: difference = -$1,560, 95% confidence interval -$7,558 to $3,866, p = 0.36; primary care: difference = $681, 95% confidence interval -$884 to $2,171, p = 0.70). Scenario analyses showed the cost reduction of omitting or limiting the types of secondary findings was less than $69 and $182 per patient in cardiology and primary care, respectively.
conclusionShort-term costs of WGS were driven by the costs of sequencing and interpretation rather than downstream health care. Disclosing additional types of secondary findings has a limited cost impact following disclosure.
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What OpenQuestion holds
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.