Evidence map›Paper›PMID 32102930›Full record

ArticlePediatrics2020

A Centralized Approach for Practicing Genomic Medicine.

Sawona Biswas, Livija Medne, Batsal Devkota, Emma Bedoukian, Donna Berrodin, Kosuke Izumi, Matthew A Deardorff, Jennifer Tarpinian, Jacqueline Leonard, Loiusa Pyle and 12 more

Abstract read
In one paragraph

Article in Pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–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.

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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. 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

22 authors.

Sawona BiswasRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Livija MedneRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Batsal DevkotaRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Emma BedoukianRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Donna BerrodinRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Kosuke IzumiRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Matthew A DeardorffRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Jennifer TarpinianRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Jacqueline LeonardRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Loiusa PyleRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Christopher GrayRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Jasmine MontgomeryRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Tyrah WilliamsRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Sierra FortunatoRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Jamila WeatherlyRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Deborah McEldrewRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Manindar KaurRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Sarah E RaibleRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Alisha WilkensInformed DNA, St. Petersburg, Florida.
Nancy B SpinnerDivision of Genomic Diagnostics, and.
Cara SkrabanRoberts Individualized Medical Genetics Center, Division of Human Genetics.
Ian D KrantzRoberts Individualized Medical Genetics Center, Division of Human Genetics.

Funding

Institutional Clinical and Translational Science AwardKL2TR001879 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI MEAGHER, EMMA ANNE · 2016 to 2025
$13.7M
MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7M
NCATS NIH HHS KL2 TR001879NIGMS NIH HHS T32 GM008638
6 · The paper itself

Abstract

Next-generation sequencing has revolutionized the diagnostic process, making broadscale testing affordable and applicable to almost all specialties; however, there remain several challenges in its widespread implementation. Barriers such as lack of infrastructure or expertise within local health systems and complex result interpretation or counseling make it harder for frontline clinicians to incorporate genomic testing in their existing workflow. The general population is more informed and interested in pursuing genetic testing, and this has been coupled with the increasing accessibility of direct-to-consumer testing. As a result of these changes, primary care physicians and nongenetics specialty providers find themselves seeing patients for whom genetic testing would be beneficial but managing genetic test results that are out of their scope of practice. In this report, we present a practical and centralized approach to providing genomic services through an independent, enterprise-wide clinical service model. We present 4 years of clinical experience, with >3400 referrals, toward designing and implementing the clinical service, maximizing resources, identifying barriers, and improving patient care. We provide a framework that can be implemented at other institutions to support and integrate genomic services across the enterprise.

Indexed as

Genetic TestingPediatricsChildDelivery of Health CareGenomicsHumans

Identifiers

PMID32102930
PMCPMC9921770

What OpenQuestion holds

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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.