Evidence map›Paper›PMID 26828522›Full record

ArticleJournal of personalized medicine2016

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.

Heidi L Rehm, Elizabeth Hynes, Birgit H Funke

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
3.3field-weighted citation impact, top 8% of its field
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
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  4. Sources of discordance among germ-line variant classifications in ClinVar.Genetics in medicine : official journal of the American College of Medical Genetics · 2017
    Article
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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

3 authors at 3 institutions in 1 country.

Heidi L RehmLaboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston, MA 02139, USA. hrehm@partners.org.
Elizabeth HynesLaboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston, MA 02139, USA. eduffy1@mgh.harvard.edu.
Birgit H FunkeLaboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston, MA 02139, USA. bfunke@partners.org.
Brigham and Women's Hospital · USHarvard University · USMass General Brigham · US

Funding

Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARTIN, CHRISTA LESE, REHM, HEIDI L · 2013 to 2020
$26.9M
Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Global Alliance for Genomic Health (GA4GH)U01HG008676 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LENNON, NIALL JOHN, REHM, HEIDI L · 2015 to 2019
$8.6M
Genome Sequence-Based Screening for Childhood Risk and Newborn IllnessU19HD077671 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI BEGGS, ALAN H., GREEN, ROBERT C. · 2013 to 2018
$6.1M
NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01 HG008676NHGRI NIH HHS U41 HG006834NICHD NIH HHS U19 HD077671
6 · The paper itself

Abstract

Over the last decade, the field of molecular diagnostics has undergone tremendous transformation, catalyzed by the clinical implementation of next generation sequencing (NGS). As technical capabilities are enhanced and current limitations are addressed, NGS is increasingly capable of detecting most variant types and will therefore continue to consolidate and simplify diagnostic testing. It is likely that genome sequencing will eventually serve as a universal first line test for disorders with a suspected genetic origin. Academic Medical Centers (AMCs), which have been at the forefront of this paradigm shift are now presented with challenges to keep up with increasing technical, bioinformatic and interpretive complexity of NGS-based tests in a highly competitive market. Additional complexity may arise from altered regulatory oversight, also triggered by the unprecedented scope of NGS-based testing, which requires new approaches. However, these challenges are balanced by unique opportunities, particularly at the interface between clinical and research operations, where AMCs can capitalize on access to cutting edge research environments and establish collaborations to facilitate rapid diagnostic innovation. This article reviews present and future challenges and opportunities for AMC associated molecular diagnostic laboratories from the perspective of the Partners HealthCare Laboratory for Molecular Medicine (LMM).

Indexed as

academic medical centersbiobankclinical translational researchcommercial–academic partnershipscomprehensive testingLaboratory of Molecular Medicinelaboratory–physician collaborationsmolecular diagnosticsnext generation sequencingPartners HealthCare

Identifiers

PMID26828522
PMCPMC4810387
OpenAlexW2263423515

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.