Expanding Genetic Counselor Roles: A Model for Global Research Development

Author:

Muraresku Colleen C.1ORCID,McCormick Elizabeth M.1,Rockart Lydia2ORCID,Blaine Crowley T.2ORCID,Asher Stephanie3,Back Amanda45,Baldino Sarah M.6,Bedoukian Emma78,Britt Allison D.9ORCID,Burrill Natalie10ORCID,Cacioppo Cara11,Clark Dana Farengo12,Clark Mary Egan12ORCID,Conway Laura13,Dratch Laynie14ORCID,Dubbs Holly A.4,Engelhardt Nicole M.15ORCID,Ginn Natalie45,Gray Christopher78,Hartman Tiff13,Hathaway Evan R.6,Helbig Katherine L.4ORCID,Hoffman-Andrews Lily16,Kasperski Stefanie10,Keena Beth A.8,Keller Kierstin N.17,Long Jessica M.18ORCID,Lulis Lauren19,Lusk Laina45,McGinn Daniel E.12,Mueller Rebecca20,Paul Rache A.14,Pilchman Lisa10,Powers Jacquelyn18,Raible Sarah E.7,Reichert Sara19,Rippert Alyssa L.821ORCID,Arnold Angela G.18,Ruggiero Sarah M.4522,Schindewolf Erica23,Sullivan Katie Rose45,Terek Shannon24,Wang Bekah2,Wells McKenzie14,Wisniewski Natalia25,Wright Renee10,Wood Elisabeth McCarty11,Woyciechowski Stacy21,Zelley Kristin6,Valverde Kathleen D.1326ORCID,McDonald-McGinn Donna M.22728ORCID

Affiliation:

1. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

2. 22q and You Center, Clinical Genetics, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

3. Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

4. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

5. Division of Neurology, The Epilepsy Neurogenetics Initiative, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

6. Division of Oncology, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

7. Roberts Individualized Medical Genetics Center (RIMGC), Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

8. Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

9. Comprehensive Vascular Anomalies Program, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

10. Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

11. Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA

12. Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

13. Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

14. Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA

15. Section of Biochemical Genetics, Division of Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

16. Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

17. Center for Mitochondrial and Epigenomic Medicine, Department of Pathology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

18. Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

19. Division of Genomic Diagnostics, Department of Pathology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

20. Masters Genetic Counseling Program, Department of Medical Ethics and Health Policy, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

21. Division of Cardiology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

22. Division of Neurology, The Epilepsy Neurogenetics Initiative, Center for Epilepsy and Neurodevelopmental Disorders (ENDD), Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

23. CHOP Precision Medicine Services, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

24. Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

25. Obstetrics and Gynecology Reproductive Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

26. Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

27. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

28. Department of Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy

Abstract

Purpose: Genetic 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. Methods: Publications 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. Results: An 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. Conclusions: Here, 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.

Publisher

MDPI AG

Reference9 articles.

1. A new definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force report;Resta;J. Genet. Couns.,2006

2. The Global State of the Genetic Counseling Profession;Abacan;Eur. J. Hum. Genet.,2019

3. Genetic counseling globally: Where are we now?;Ormond;Am. J. Med. Genet. Part C Semin. Med. Genet.,2018

4. Counselors NSoG (2024, January 13). 2023 Professional Status Survey. Available online: https://www.nsgc.org/Policy-Research-and-Publications/Professional-Status-Survey.

5. Genetic counselling in the era of genomic medicine;Patch;Br. Med. Bull.,2018

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