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. 2024 Jul 1;15(7):867.
doi: 10.3390/genes15070867.

Expanding Genetic Counselor Roles: A Model for Global Research Development

Colleen C Muraresku  1 , Elizabeth M McCormick  1 , Lydia Rockart  2 , T Blaine Crowley  2 , Stephanie Asher  3 , Amanda Back  4   5 , Sarah M Baldino  6 , Emma Bedoukian  7   8 , Allison D Britt  9 , Natalie Burrill  10 , Cara Cacioppo  11 , Dana Farengo Clark  12 , Mary Egan Clark  12 , Laura Conway  13 , Laynie Dratch  14 , Holly A Dubbs  4 , Nicole M Engelhardt  15 , Natalie Ginn  4   5 , Christopher Gray  7   8 , Tiff Hartman  13 , Evan R Hathaway  6 , Katherine L Helbig  4 , Lily Hoffman-Andrews  16 , Stefanie Kasperski  10 , Beth A Keena  8 , Kierstin N Keller  17 , Jessica M Long  18 , Lauren Lulis  19 , Laina Lusk  4   5 , Daniel E McGinn  1   2 , Rebecca Mueller  20 , Rache A Paul  14 , Lisa Pilchman  10 , Jacquelyn Powers  18 , Sarah E Raible  7 , Sara Reichert  19 , Alyssa L Rippert  8   21 , Angela G Arnold  18 , Sarah M Ruggiero  4   5   22 , Erica Schindewolf  23 , Katie Rose Sullivan  4   5 , Shannon Terek  24 , Bekah Wang  2 , McKenzie Wells  14 , Natalia Wisniewski  25 , Renee Wright  10 , Elisabeth McCarty Wood  11 , Stacy Woyciechowski  21 , Kristin Zelley  6 , Kathleen D Valverde  13   26 , Donna M McDonald-McGinn  2   27   28
Affiliations

Expanding Genetic Counselor Roles: A Model for Global Research Development

Colleen C Muraresku et al. Genes (Basel). .

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.

Keywords: genetic counselors; publications; research.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Timeline of the field of genetic counseling growth locally, nationally, and internationally.
Figure 2
Figure 2
Genetic counselors’ divisions and specialties across CHOP and Penn. Genetic counselors and their divisions and specialized programs across the 2 institutions.
Figure 3
Figure 3
Genetic counselors in each institution in 2024. This represents the total number of individual genetic counselors at each institution, including the 4 who left, and who we have data on.
Figure 4
Figure 4
Numbers of unique publications per year and number of GC authors that year. Number of publications in the medical literature with at least one genetic counselor included as an author. With minimum increase in GCs publishing the number of publications increased some years 3-fold. 2024 data collected stopped as of 5 February.
Figure 5
Figure 5
Numbers of unique publications per year and number of GC authors that year. Number of publications in the medical literature with at least one genetic counselor included as an author. With minimum increase in GCs publishing the number of publications increased some years 3 fold. 2024 data collected stopped as of 5 February.
Figure 6
Figure 6
Categories of publications per year. Genetic counselors contributed to diverse publication types. 2024 data collected stopped as of 5 February.
Figure 7
Figure 7
Genetic counseling authorship position. Genetic counselors held various positions in authorships across the medical literature.
See this image and copyright information in PMC

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