ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 108 papers, 4 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
108 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations.Frontiers in public health · 2025Pooled it
- A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- The clinical utility of exome and genome sequencing across clinical indications: a systematic review.Human genetics · 2021Pooled it
- An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.American journal of human genetics · 2020Trial
- Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience.Journal of human immunity · 2026Article
- Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.European journal of human genetics : EJHG · 2026Article
- Article
- Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Trial-Based Economic Evaluations Conducted alongside Studies Embedded in Australian Healthcare Services and Programs: A Scoping Review.PharmacoEconomics - open · 2026Review
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 2026Article
- The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.European journal of human genetics : EJHG · 2026Review
- Picking Up the Phone: Clinical Perspectives on Recontacting Patients and Their Families.Journal of paediatrics and child health · 2026Review
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.Pediatric nephrology (Berlin, Germany) · 2025Review
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
- Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in theMetabolites · 2025Article
- Long-term follow-up of children who received rapid genomic sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Identifying characteristics associated with genetic testing in the NICU.Journal of community genetics · 2025Article
- A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice.Communications medicine · 2025Review
48 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses.
methodsWe collected information on continuing diagnostic investigation, changes in management, cascade testing, and parental reproductive outcomes in 80 infants who underwent singleton whole-exome sequencing (WES).
resultsThe median duration of follow-up following result disclosure was 473 days. Changes in clinical management due to diagnostic WES results led to a cost saving of AU$1,578 per quality-adjusted life year gained, without increased hospital service use. Uninformative WES results contributed to the diagnosis of non-Mendelian conditions in seven infants. Further usual diagnostic investigations in those with ongoing suspicion of a genetic condition yielded no new diagnoses, while WES data reanalysis yielded four. Reanalysis at 18 months was more cost-effective than every 6 months. The parents of diagnosed children had eight more ongoing pregnancies than those without a diagnosis. Taking the costs and benefits of cascade testing and reproductive service use into account, there was an additional cost of AU$8,118 per quality-adjusted life year gained due to genomic sequencing.
conclusionThese data strengthen the case for the early use of genomic testing in the diagnostic trajectory, and can guide laboratory policy on periodic WES data reanalysis.
Indexed as
Identifiers
29765138What 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.