PurposeThis study of current conditions in medical genetics practice is designed to inform public policy development and present possible solutions for improving access to genetic services.MethodsUsing the American College of Medical Genetics and Genomics Member Directory, membership directories from regional collaborative partners, listservs from national partners, and social media, a 16-question survey was electronically distributed in 2015.ResultsThe responses of 924 genetics professionals and related providers present a snapshot of current practice and an assessment of workforce needs. More than 92% of the respondents (837/910) are involved in clinical care. Among geneticists, 60% spend more than 51% of their time in clinical care. Geneticists reported an average of 10.2 new patients per week and 7.8 follow-up visits per week. More than 62% of geneticists said that their practices were nearly full; 9.4% said that they were not taking new patients. The survey identified more than 100 geneticists and 200 genetic counselor job vacancies. Fewer than 18% of respondents reported use of telemedicine.ConclusionWhen compared with previously published workforce studies, these data show that wait times and average new patient caseloads have increased, while the number of geneticists has not.

Purpose This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. Methods A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists. Results Of the 491 clinical geneticists responding to the survey, a majority were female (59%) and White (79%), worked in academic medical centers (73%), and many engaged in telemedicine (33%). Clinical geneticists reported an average of 13 new and 10 follow-up patient visits per week. The average work week was 50 hours and the majority (58%) worked over half-time in clinical duties. Providers indicated that 39% of new emergency patients wait 3 days or more, and 39% of nonemergency patients wait over 3 months to be seen. Respondents were geographically concentrated in metropolitan areas and many reported unfilled clinical geneticist job vacancies at their institution of more than 3 years. Conclusion With the rapid expansion of genomic medicine in the past decade, there is still a gap between genetics services needed and workforce capacity. A concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs.

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Southern blot analysis is typically used for molecular characterization of genetically modified (GM) crops.  Southern-by-Sequencing (SbSTM technology, hereafter referred to as SbS) is a high-throughput, sequence-based alternative technique utilizing targeted sequence capture coupled with next-generation sequencing (NGS) and bioinformatics tools to achieve the same molecular endpoints.  To demonstrate that both SbS and Southern blot analysis reach the same conclusions about insertion copy number and intactness of the inserted DNA, both techniques were used to characterize four soybean GM events containing simple or complex DNA insertions.  To demonstrate that both techniques reach the same conclusions about the presence of unintended DNA, maize GM events containing Agrobacterium plasmid backbone fragments were characterized.  Additionally, oligonucleotides containing varying lengths of target sequence were analyzed to compare both techniques’ sensitivity for detecting small insertions.  SbS and Southern blots had similar sensitivity and provided comparable results for copy number and intactness of simple and complex DNA insertions.  Both techniques also had comparable results for detection of unintended plasmid backbone DNA sequences and small DNA fragments.  Thus, SbS can deliver the same endpoints as Southern blot analysis for key molecular characterization aspects of GM crops and gene edited varieties, providing important information to inform regulatory decisions. https://doi.org/10.21423/jrs-v07brink

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