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Global trends and themes in genetic counseling research

Abstract

This article seeks to highlight the most recent trends and themes in genetic counseling that are of broad interest. A total of 3505 documents were published between 1952 and 2021, with a trend toward increase in paper/year. The most common documents are original articles (2515, 71.8%), followed by review articles (341, 9.7%). Journal of Genetic Counseling publishes the highest number of genetic counseling articles (587, 16.7%), followed by Clinical Genetics (103, 2.9%) and the South American Journal of Medical Genetics (95, 2.7%). Co-occurrence analysis revealed five research themes: genetic testing, cancer, genetic counselor, prenatal diagnosis, and psychiatry. The genetic counselor theme contained most of the recent keywords, including “covid-19,” “underrepresented population,” “service delivery models,” “workforce,” “disparities,” “service delivery,” “professional development,” “cultural competence,” “access,” “diversity,” “telemedicine,” and “health literacy.” Genetic counseling researchers may use these keywords to find topics pertinent to their future research and practice.

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Fig. 1
Fig. 2: Maps of author keywords co-occurrence in literature in the field of genetic counseling.

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Data availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

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Funding

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

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WNAZ designed the study; RZ and AW contributed to data extraction and prepared the first draft of the manuscript; and all authors reviewed and provided feedback on the manuscript.

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Correspondence to Wan Nur Amalina Zakaria.

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Zakaria, W.N.A., Yoon, SY., Wijaya, A. et al. Global trends and themes in genetic counseling research. Eur J Hum Genet 31, 1181–1184 (2023). https://doi.org/10.1038/s41431-023-01371-3

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