Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Genes (Basel). 2024 Jul 1;15(7):867. doi: 10.3390/genes15070867.
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.
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.
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.
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.
遗传咨询师（GCs）通过创新研究在推进基因组医学方面发挥着越来越重要的作用。在这里，我们研究了一大群 GC 对文献的不断发展的贡献，旨在通过学术活动促进全球 GC 的专业发展。
2014 年在费城儿童医院和宾夕法尼亚大学成立的遗传咨询科（Section）的成员对出版物进行了编目，包括出版年份、期刊、影响因子和作者职位。数据使用国家生物技术信息中心网站上的“My Bibliography”工具和为最初收集截至 2020 年 6 月 30 日发表的手稿而创建的 Research Electronic Data Capture 数据库进行组织。随后的调查捕获了截至 2024 年 2 月 5 日发表的出版物。
120 名 GC 中有 52 名（43%）共享了他们的简历/论文。从 1986 年到 2024 年，共确定了 992 篇独特的出版物。自 2013 年以来，每年至少有 32 篇由科成员发表的论文，每年至少有 10 名 GC 参与论文发表。影响因子通常每年平均>5.0。自 2015 年以来，重点领域有了相当大的多样化。
在这里，我们通过出版物的数量证明了 GC 确实在学术工作中做出了贡献。建立一个学术之家可能对此有所贡献，因为自该科成立以来，出版物数量增加，为在全国和国际范围内组织 GC 提供了一个模式。突出这些成就将促进 GC 在精准基因组医学和治疗时代扩大其角色。考虑如何支持 GC 扩大这些活动同样重要。
