Evidence map›Paper›PMID 39062646›Full record

ArticleGenes2024

Expanding Genetic Counselor Roles: A Model for Global Research Development.

Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, T Blaine Crowley, Stephanie Asher, Amanda Back, Sarah M Baldino, Emma Bedoukian, Allison D Britt, Natalie Burrill and 41 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. 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
–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

3 citing papers in PubMed.

  1. Article
  2. Article
  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

51 authors.

Colleen C MurareskuMitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-0045-1664
Elizabeth M McCormickMitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Lydia Rockart22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0009-0009-8949-4038
T Blaine Crowley22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-3272-5458
Stephanie AsherDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Amanda BackDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Sarah M BaldinoDivision of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Emma BedoukianRoberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Allison D BrittComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-6601-0453
Natalie BurrillRichard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-6046-5999
Cara CacioppoPenn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA.
Dana Farengo ClarkDivision of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Mary Egan ClarkDivision of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0009-0001-3712-9073
Laura ConwayMaster of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Laynie DratchDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-2179-3199
Holly A DubbsDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Nicole M EngelhardtSection of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-0499-0884
Natalie GinnDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Christopher GrayRoberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Tiff HartmanMaster of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Evan R HathawayDivision of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Katherine L HelbigDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-8249-0549
Lily Hoffman-AndrewsDivision of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Stefanie KasperskiRichard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Beth A KeenaDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Kierstin N KellerCenter for Mitochondrial and Epigenomic Medicine, Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Jessica M LongBasser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-0382-7890
Lauren LulisDivision of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Laina LuskDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Daniel E McGinnMitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Rebecca MuellerMasters Genetic Counseling Program, Department of Medical Ethics and Health Policy, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rache A PaulDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Lisa PilchmanRichard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Jacquelyn PowersBasser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sarah E RaibleRoberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Sara ReichertDivision of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Alyssa L RippertDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-4735-5223
Angela G ArnoldBasser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sarah M RuggieroDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Erica SchindewolfCHOP Precision Medicine Services, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Katie Rose SullivanDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Shannon TerekCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Bekah Wang22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
McKenzie WellsDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Natalia WisniewskiObstetrics and Gynecology Reproductive Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Renee WrightRichard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elisabeth McCarty WoodPenn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA.
Stacy WoyciechowskiDivision of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Kristin ZelleyDivision of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Kathleen D ValverdeMaster of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0001-6515-8982
Donna M McDonald-McGinn22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-4077-250X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeGenetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities.

methodsPublications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children's Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position. Data were organized using the "My Bibliography" tool on the National Center for Biotechnology Information website and a Research Electronic Data Capture database created to initially collect manuscripts published through 30 June 2020. A subsequent survey captured publications through 5 February 2024.

resultsAn amount of 52 of 120 (43%) GCs shared their curriculum vitae/papers. 992 unique publications were identified from 1986 to 2024. Since 2013, no less than 32 papers were published annually by Section members and no less than 10 GCs contributed to publications yearly. Impact factors typically averaged >5.0 per year. Areas of foci diversified considerably since 2015.

conclusionsHere, we establish that GCs indeed contribute to scholarly work as evidenced by the number of publications alone. The establishment of an academic home may have contributed, given publications increased concurrent to launching the Section, providing a model for organizing GCs at institutions nationally and internationally. Highlighting such achievements will foster the expansion of GC roles in the era of precision genomic medicine and therapy. Considering ways to support GCs towards expanding these activities is equally important.

Indexed as

Genetic CounselingCounselorsHumansJournal Impact Factorgenetic counselorspublicationsresearch

Identifiers

PMID39062646
PMCPMC11276331

What OpenQuestion holds

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Registered trials

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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.