Evidence map›Paper›PMID 30224109›Full record

ArticleValue in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research2018

Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project.

Kurt D Christensen, Kathryn A Phillips, Robert C Green, Dmitry Dukhovny

Registry-linked trialAbstract read
In one paragraph

Article in Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04196374 (Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts), which is not on this map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

NCT04196374 nacompletednot on this mapstarted 2021, after this paper: background citation

Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts

TypeinterventionalSponsorBrigham and Women's HospitalRan2021 to 2025Enrolled7,603ConditionsSeemingly Healthy, Genetic Predisposition to DiseaseArmsGenomic Sequencing
3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2020
    Trial
  3. Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuation.The European journal of health economics : HEPAC : health economics in prevention and care · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Integrating Genomics into Healthcare: A Global Responsibility.American journal of human genetics · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Kurt D ChristensenDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: kchristensen@bwh.harvard.edu.
Kathryn A PhillipsDepartment of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), University of California San Francisco, San Francisco, CA, USA; Philip R. Lee Institute for Health Policy and Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.
Robert C GreenDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Partners HealthCare Personalized Medicine, Boston, MA, USA.
Dmitry DukhovnyDepartment of Pediatrics, Oregon Health & Science University, Portland, OR, USA.

Funding

Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Risk-Benefit Trade-Offs for Whole Genome SequencingR01HG007063 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PHILLIPS, KATHRYN A · 2013 to 2016
$2.5M
Cost-effectiveness of Whole Genome Sequencing of Healthy AdultsK01HG009173 · NHGRI · HARVARD PILGRIM HEALTH CARE, INC. · PI CHRISTENSEN, KURT DEREK · 2016 to 2020
$626k
NHGRI NIH HHS K01 HG009173NHGRI NIH HHS R01 HG007063NHGRI NIH HHS U01 HG006500
6 · The paper itself

Abstract

objectiveTo summarize lessons learned while analyzing the costs of integrating whole genome sequencing into the care of cardiology and primary care patients in the MedSeq Project by conducting the first randomized controlled trial of whole genome sequencing in general and specialty medicine.

methodsCase study that describes key methodological and data challenges that were encountered or are likely to emerge in future work, describes the pros and cons of approaches considered by the study team, and summarizes the solutions that were implemented.

resultsMajor methodological challenges included defining whole genome sequencing, structuring an appropriate comparator, measuring downstream costs, and examining clinical outcomes. Discussions about solutions addressed conceptual and practical issues that arose because of definitions and analyses around the cost of genomic sequencing in trial-based studies.

conclusionsThe MedSeq Project provides an instructive example of how to conduct a cost analysis of whole genome sequencing that feasibly incorporates best practices while being sensitive to the varied applications and diversity of results it may produce. Findings provide guidance for researchers to consider when conducting or analyzing economic analyses of whole genome sequencing and other next-generation sequencing tests, particularly regarding costs.

Indexed as

Cardiology Service, HospitalCost-Benefit AnalysisGenomicsHumansPrimary Health CareWhole Genome Sequencingcardiomyopathycostshumanshypertrophicpilot studyprimary health carerandom allocationwhole genome sequencing

Identifiers

PMID30224109
PMCPMC6444358

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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.