Journal: Genetics in Medicine Open

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Elsevier

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ISSN

2949-7744

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Publications 1 - 5 of 5
  • Genetic Counseling Around the Globe
    Item type: Journal Issue
    (2024)
    Genetics in Medicine Open
  • Genetic counseling around the globe: Promoting international cooperation and collaboration
    Item type: Journal Article
    Ormond, Kelly; Lee, Juliana Mei-Har; Gaff, Clara L. (2024)
    Genetics in Medicine Open
  • The global status of genetic counselors in 2023: What has changed in the past 5 years?
    Item type: Journal Article
    Ormond, Kelly; Abad, Peter James; MacLeod, Rhona; et al. (2024)
    Genetics in Medicine Open
    Purpose The profession of genetic counselors has existed for over 50 years. This article provides an update on the global state of the genetic counseling (GC) profession in 2022 and 2023. Methods We used a survey approach to collect data from individuals who were identified as being leaders in GC practice and/or education around the world. Results Based on responses provided between October 2023 and January 2024, we estimate that there are over 10,250 genetic counselors in over 45 countries around the world. These numbers have increased significantly in the past 5 years, when there were ∼7000 genetic counselors. Key factors identified as driving the increase in genetic counselors are the number of training programs that have developed (>130 globally, mostly at a master’s degree level) and a growing number of national biobanks and/or population screening programs that require GC as part of the process. There is tremendous variability in how genetic counselors are regulated, with only a few countries holding national statutory regulation processes. There are many commonalities, but the GC profession appears nuanced to their specific country and its wider socio-political context and history. Conclusion We hope that genetic counselors internationally will come together to assist each other in all aspects: training, statutory regulation, developing the workforce, and establishing GC as an academic discipline. We envision that establishing an international organization for the profession of genetic counselors might maintain such international connections and provide relevant data in future years.
  • Genetic counseling around the globe: A call for papers
    Item type: Other Journal Item
    Ormond, Kelly; Gaff, Clara L. (2024)
    Genetics in Medicine Open
  • Improvement of variant reclassification in genetic neurodevelopmental conditions
    Item type: Journal Article
    Kowanda, Michelle; Sheedy Smith, Rebecca; Lundy, Jamie; et al. (2024)
    Genetics in Medicine Open
    Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants of uncertain significance (VUS). Because inheritance patterns aid in variant interpretation for neurodevelopmental conditions, genetic testing including only the proband leads to larger numbers of VUS than testing strategies that include the parents. Methods: We reinterpreted genetic variants submitted to the Simons Searchlight research registry using American College of Medical Genetics and Genomics variant interpretation guidelines, familial cascade testing, and literature curation with annual VUS reevaluation. Results: Simons Searchlight has independently evaluated 2834 genetic laboratory reports; 20.4% of variants (1.7% copy-number variants and 18.7% monogenic variants) were reclassified with 230 upgrades and 173 downgrades in pathogenicity. Of 351 monogenic VUS on the original clinical test report, 25.4% were reclassified as likely pathogenic or pathogenic. VUS in SCN2A, SLC6A1, or STXBP1 were more likely to have VUS reclassified compared with variants in other genes. Conclusion: Regular reevaluation of neurodevelopmental genetic variants can be helpful because relevant variant reclassifications occur frequently and may affect clinical care. Simons Searchlight contributes to the international neurodevelopmental community by systematically reviewing uncertain variants annually and providing reclassified variants to participants, researchers, and ClinVar.
Publications 1 - 5 of 5