Evidence map›Paper›PMID 33274544›Full record

ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2020

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Andrew K Sobering, Dong Li, Jennifer S Beighley, John C Carey, Tyhiesia Donald, Sarah H Elsea, Karla P Figueroa, Jennifer Gerdts, Andre Hamlet, Ghayda M Mirzaa and 8 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. 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 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors at 8 institutions in 2 countries.

Andrew K SoberingDepartment of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.ORCID 0000-0002-9251-2614
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jennifer S BeighleyDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
John C CareyDepartment of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.ORCID 0000-0002-6007-8518
Tyhiesia DonaldGrenada General Hospital, Pediatrics Ward, St. George's, Grenada.
Sarah H ElseaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Karla P FigueroaDepartment of Neurology, University of Utah, Salt Lake City, Utah, USA.
Jennifer GerdtsDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
Andre HamletGrenada General Hospital, Pediatrics Ward, St. George's, Grenada.
Ghayda M MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.ORCID 0000-0003-2648-7657
Beverly NelsonClinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.
Stefan M PulstDepartment of Neurology, University of Utah, Salt Lake City, Utah, USA.
Janice L SmithDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Flora TassoneDepartment of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA.ORCID 0000-0002-6388-9180
Helga V TorielloDepartment of Pediatrics/Human Development College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.
Ruth H WalkerDepartment of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York, USA.
Katherine R YearwoodSt. George's University, University Health Services, St. George's, Grenada.
Elizabeth J BhojCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
St. George's University · GDUniversity of Utah · USUniversity of Washington · USBaylor College of Medicine · USChildren's Hospital of Philadelphia · USGrand Rapids Community College · USJames J. Peters VA Medical Center · USUniversity of California Davis Medical Center · US

Funding

Megalencephaly and segmental brain overgrowth in humansR01NS092772 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MILLEN, KATHLEEN JOYCE · 2015 to 2019
$3.3M
Genes and pathways underlying brain overgrowth and focal cortical malformationsK08NS092898 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MIRZAA, GHAYDA · 2015 to 2019
$930k
NINDS NIH HHS K08 NS092898NINDS NIH HHS K08NS092898NINDS NIH HHS R01 NS092772
6 · The paper itself

Abstract

We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource-limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2-3 clinics per year on various islands in the Caribbean. We also organized a week-long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow-up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large.

Indexed as

Autism Spectrum DisorderPhysiciansChildDelivery of Health CareHumansReferral and ConsultationWest IndiesCaribbeanclinical genetic testingWest Indies

Identifiers

PMID33274544
PMCPMC8683562
OpenAlexW3108474115

What OpenQuestion holds

Textmetadata
LicenceTDM
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.