Evidence map›Paper›PMID 25232854›Full record

ReviewGenetics in medicine : official journal of the American College of Medical Genetics2015

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Yuan Xue, Arunkanth Ankala, William R Wilcox, Madhuri R Hegde

Registry-linked trialAbstract readReview
PubMed Publisher
In one paragraph

Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03829176 (Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder), which is not on this map. Cited by 180 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
180citing papers in PubMed, 3 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.

NCT03829176 nacompletednot on this mapstarted 2018, after this paper: background citation

Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

TypeinterventionalSponsorMassachusetts General HospitalRan2018 to 2020Enrolled200ConditionsHereditary Disease, Genetic Predisposition to DiseaseArmsWhole Genome Sequencing
3 · Its place in the literature

Who cites it

180 citing papers in PubMed, 3 syntheses or guidelines pooled it.

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  4. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
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120 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Yuan XueEmory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
Arunkanth AnkalaEmory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
William R WilcoxClinical Division, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
Madhuri R HegdeEmory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing is changing the paradigm of clinical genetic testing. Today there are numerous molecular tests available, including single-gene tests, gene panels, and exome sequencing or genome sequencing. As a result, ordering physicians face the conundrum of selecting the best diagnostic tool for their patients with genetic conditions. Single-gene testing is often most appropriate for conditions with distinctive clinical features and minimal locus heterogeneity. Next-generation sequencing-based gene panel testing, which can be complemented with array comparative genomic hybridization and other ancillary methods, provides a comprehensive and feasible approach for heterogeneous disorders. Exome sequencing and genome sequencing have the advantage of being unbiased regarding what set of genes is analyzed, enabling parallel interrogation of most of the genes in the human genome. However, current limitations of next-generation sequencing technology and our variant interpretation capabilities caution us against offering exome sequencing or genome sequencing as either stand-alone or first-choice diagnostic approaches. A growing interest in personalized medicine calls for the application of genome sequencing in clinical diagnostics, but major challenges must be addressed before its full potential can be realized. Here, we propose a testing algorithm to help clinicians opt for the most appropriate molecular diagnostic tool for each scenario.

Indexed as

AlgorithmsExomeGenesGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansMolecular Diagnostic Techniques

Identifiers

PMID25232854

What OpenQuestion holds

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Read underepoch 390

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.