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PURPOSE: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has not yet been any formal evaluation of the merging of these disciplines and the challenges faced by Program Directors (PDs) tasked with ensuring the successful training of laboratory geneticists under the new model. METHODS: An electronic multi-question Qualtrics survey was created and was sent to the PD for each of the Accreditation Council for Graduate Medical Education-accredited LGG fellowship programs at the time. The data were collected, and the responses were aggregated for each question. RESULTS: All of the responding PDs had started training at least 1 LGG fellow. PDs noted challenges with funding, staff shortages, molecular/cytogenetics content integration, limited total training time, increased remote work, increased sendout testing, and a lack of prior cytogenetics knowledge among incoming fellows. CONCLUSION: This survey attempted to assess the challenges that LGG PDs have been facing in offering and integrating clinical molecular genetics and clinical cytogenetics fellowship training. Common challenges between programs were noted, and a set of 6 concluding comments are provided to facilitate future discussion.

BackgroundThe exciting discovery that telomere shortening is associated with many health conditions and that telomere lengths can be altered in response to social and environmental exposures has underscored the need for methods to accurately and consistently quantify telomere length.ObjectivesThe purpose of this article is to provide a comprehensive summary that compares and contrasts the current technologies used to assess telomere length.DiscussionMultiple methods have been developed for the study of telomeres. These techniques include quantification of telomere length by terminal restriction fragmentation-which was one of the earliest tools used for length assessment-making it the gold standard in telomere biology. Quantitative polymerase chain reaction provides the advantage of being able to use smaller amounts of DNA, thereby making it amenable to epidemiology studies involving large numbers of people. An alternative method uses fluorescent probes to quantify not only mean telomere lengths but also chromosome-specific telomere lengths; however, the downside of this approach is that it can only be used on mitotically active cells. Additional methods that permit assessment of the length of a subset of chromosome-specific telomeres or the subset of telomeres that demonstrate shortening are also reviewed.ConclusionGiven the increased utility for telomere assessments as a biomarker in physiological, psychological, and biobehavioral research, it is important that investigators become familiar with the methodological nuances of the various procedures used for measuring telomere length. This will ensure that they are empowered to select an optimal assessment approach to meet the needs of their study designs. Gaining a better understanding of the benefits and drawbacks of various measurement techniques is important not only in individual studies, but also to further establish the science of telomere associations with biobehavioral phenomena.

Robust associations between adverse childhood experiences and shortened telomere length exist, but few studies have examined factors that may moderate this association, particularly with a resilience framework. The present study examined the association between exposure to childhood sexual abuse (and abuse severity) and mean telomere length, and whether social support and optimism moderated this association. The sample included 99 White monozygotic female twins, ranging in age from 35 to 70 (M.sub.age = 52.74, SD = 8.55 years), who provided a blood sample for telomere assay, and data on their childhood sexual abuse history, trait optimism, and current social support. Linear mixed effects models were employed to test study hypotheses. There were no effects of exposure to abuse or abuse severity on mean telomere length, nor were there main or moderating effects of optimism, in analyses of the full sample. However, in analyses that only included women exposed to abuse, there was an abuse type x support interaction: among women who experienced abuse in forms other than intercourse, higher levels of social support were associated with longer mean telomere length. Findings from the current study clarify the role of childhood sexual abuse in telomere attrition, and identify one factor that may protect against the negative biological effects of childhood sexual abuse., Author(s): David W. Sosnowski [sup.1] , Wendy Kliewer [sup.1] , Timothy P. York [sup.2] , Ananda B. Amstadter [sup.3] , Colleen K. Jackson-Cook [sup.4] , Marcia A. Winter [sup.1] Author [...]

Background: Identifying cytogenetic changes in tumors can aid in diagnosis/prognosis and disease management. Complete cytogenetic characterization has historically required a multimethod/time‐consuming approach. Optical genome mapping (OGM) offers a potential solution to this challenge by detecting both balanced and unbalanced abnormalities in a single assay. Methods: Genetic changes acquired with tumor‐forming potential in a prostate xenograft subline [M2205] (derived from a Black male) that were detected using cytogenetic versus OGM analyses were compared to assess the utility of OGM for analyzing solid tumors. Results: Cytogenetic/OGM concordance was noted for (a) copy number gains (16, 1p, 3q, 5q, 7p, 8q, 9q, 11p, 11q, 15q, 20q), (b) copy number losses (Y, 3p, 4p, 6p, 7p, 9p, 11q), and (c) structural changes, including multibreak rearrangements. Discordance was noted for two structural findings, both of which had breakpoints localized to repetitive sequences. The OGM studies identified new findings and confirmed/further characterized 8q24 structural abnormalities. It also detected genes gained/disrupted in the 8q24 region (e.g., MYC, DEPTOR, and EXT1); but recognizing a jumping translocation required cytogenetic analyses. Conclusion: These results support using OGM as a tool to analyze solid tumors in clinical/research settings. Moreover, this OGM analysis expanded the characterization of cytogenetic changes present in the M2205 subline, including alterations associated with tumors from Black males diagnosed with prostate cancer. [ABSTRACT FROM AUTHOR]