Evidence map›Paper›PMID 33817879›Full record

ArticleJournal of genetic counseling2021

Under-referral of Plain community members for genetic services despite being qualified for genetic evaluation.

Sarah Ehrenberg, Catherine Walsh Vockley, Erica Nelson, Jennifer Baker, Michael Arcieri, Jessica Lindenberger, Lina Ghaloul-Gonzalez

Open access · hybridAbstract read
In one paragraph

Article in Journal of genetic counseling, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 33% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

7 authors at 2 institutions in 1 country.

Sarah EhrenbergSchool Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Catherine Walsh VockleyDivision of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Erica NelsonDivision of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Jennifer BakerDivision of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Michael ArcieriSchool Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Jessica LindenbergerDivision of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Lina Ghaloul-GonzalezDivision of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0000-0001-7697-2672
University of Pittsburgh · USUniversity of Pittsburgh Medical Center · US

Funding

Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General PopulationK08HG010490 · NHGRI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GHALOUL-GONZALEZ, LINA · 2019 to 2023
$910k
NHGRI NIH HHS K08 HG010490
6 · The paper itself

Abstract

Plain community people (Amish and Mennonites) have increased risk of having recessive genetic disorders. This study was designed to assess the rate of referral of Plain people to genetic services at UPMC Children's Hospital of Pittsburgh. Medical records of Plain patients from a 1-year time period were reviewed. Data collected included demographic information, clinical presentation, referral for genetic services, and diagnosis. Of the 303 patients, 102 (33.7%) had a clinical presentation suggestive of a genetic disorder, yet only 32 of those 102 patients (31.4%) had been evaluated by the division of Medical Genetics. These data indicate that less than half of Plain patients with a clinical presentation suggestive of a genetic disorder had been referred to the division of Medical Genetics for a formal evaluation. Now that under-referral of Plain patients has been confirmed, providers can be educated in order to increase referrals for genetic services and facilitate positive healthcare outcomes for the Plain Community.

Indexed as

Genetic ServicesReferral and ConsultationChildDelivery of Health CareHumansAmishgenetics servicesgenetic testingMennonitesplain communityreferral practices

Identifiers

PMID33817879
PMCPMC8565999
OpenAlexW3140044779

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.