LEND-Genetics Fellows: Long-Term Assessment of Interdisciplinary Skills, Service and Leadership

Interdisciplinary skills are a competency for all genetic counselors, however, there are no Accreditation Council for Genetic Counseling (ACGC) standards dictating the implementation of interprofessional education (IPE) within genetic counseling programs. Formal IPE is available to select institutions associated with Leadership Education in Neurodevelopmental and Related Disabilities (LEND) programs. This is the first research relating to IPE for genetic counseling students. We assessed IP skills and attitudes of former LEND-Genetics fellows (n=8) at the Rose F. Kennedy Center using the Team Skills Scale (TSS) and Attitude Toward Health Care Teams (ATHCT) scale. The mean TSS score was 79.8. The mean ATHCT score was 83.2, while the mean team efficiency and team value subscale scores were 78.3 and 84.5. To assess the outcomes of the LEND-Genetics program nationally, we performed a retrospective analysis of 210 archived follow-up surveys given to fellows after program completion. These data revealed that the majority of fellows are working with maternal child health, underserved and vulnerable populations. They’re more likely to work for government agencies and less likely to work in the private sector than other genetic counselors. The majority (85%) reported performing leadership activities. This assessment shows that the LEND-Genetics program is achieving its aims. We hope the success of the LEND-Genetics program will inform and encourage the creation of future ACGC IPE standards

Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome

Abstract Background Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated screenings and potential risk-reducing surgeries. Despite the importance of continued surveillance, there is limited understanding of patient experiences after initial testing and counseling, the barriers or facilitators they experience adhering to recommendations, and how they want to receive information over time. Methods A cross-sectional, observational study was conducted among 127 probands and family members who had received genetic testing for Lynch Syndrome. We conducted semi-structured interviews to determine proband and family member experiences after receiving genetic testing results including their surveillance and screening practices, information needs, and interactions with health care providers. Both closed-ended and open-ended data were collected and analyzed. Results Both probands (96.9%) and family members (76.8%) received recommendations for follow-up screening and all probands (100%) and most family members (98.2%) who tested positive had completed at least one screening. Facilitators to screening included receiving screening procedure reminders and the ease of making screening and surveillance appointments. Insurance coverage to pay for screenings was a frequent concern especially for those under 50 years of age. Participants commented that their primary care providers were often not knowledgeable about Lynch Syndrome and surveillance recommendations; this presented a hardship in navigating ongoing surveillance and updated information. Participants preferred information from a knowledgeable health care provider or a trusted internet source over social media or support groups. Conclusions Probands and family members receiving genetic testing for Lynch Syndrome generally adhered to initial screening and surveillance recommendations. However, factors such as insurance coverage and difficulty finding a knowledgeable healthcare provider presented barriers to receiving recommended follow-up care. There is an opportunity to improve care through better transitions in care, procedures to keep primary care providers informed of surveillance guidelines, and practices so that patients receive reminders and facilitated appointment setting for ongoing screening and surveillance at the time they are due

Reduced thoracolumbar fascia shear strain in human chronic low back pain

Abstract Background The role played by the thoracolumbar fascia in chronic low back pain (LBP) is poorly understood. The thoracolumbar fascia is composed of dense connective tissue layers separated by layers of loose connective tissue that normally allow the dense layers to glide past one another during trunk motion. The goal of this study was to quantify shear plane motion within the thoracolumbar fascia using ultrasound elasticity imaging in human subjects with and without chronic low back pain (LBP). Methods We tested 121 human subjects, 50 without LBP and 71 with LBP of greater than 12 months duration. In each subject, an ultrasound cine-recording was acquired on the right and left sides of the back during passive trunk flexion using a motorized articulated table with the hinge point of the table at L4-5 and the ultrasound probe located longitudinally 2 cm lateral to the midline at the level of the L2-3 interspace. Tissue displacement within the thoracolumbar fascia was calculated using cross correlation techniques and shear strain was derived from this displacement data. Additional measures included standard range of motion and physical performance evaluations as well as ultrasound measurement of perimuscular connective tissue thickness and echogenicity. Results Thoracolumbar fascia shear strain was reduced in the LBP group compared with the No-LBP group (56.4% ± 3.1% vs. 70.2% ± 3.6% respectively, p Conclusion Thoracolumbar fascia shear strain was ~20% lower in human subjects with chronic low back pain. This reduction of shear plane motion may be due to abnormal trunk movement patterns and/or intrinsic connective tissue pathology. There appears to be some sex-related differences in thoracolumbar fascia shear strain that may also play a role in altered connective tissue function.</p

Reduced thoracolumbar fascia shear strain in human chronic low back pain

The role played by the thoracolumbar fascia in chronic low back pain (LBP) is poorly understood. The thoracolumbar fascia is composed of dense connective tissue layers separated by layers of loose connective tissue that normally allow the dense layers to glide past one another during trunk motion. The goal of this study was to quantify shear plane motion within the thoracolumbar fascia using ultrasound elasticity imaging in human subjects with and without chronic low back pain (LBP). We tested 121 human subjects, 50 without LBP and 71 with LBP of greater than 12 months duration. In each subject, an ultrasound cine-recording was acquired on the right and left sides of the back during passive trunk flexion using a motorized articulated table with the hinge point of the table at L4-5 and the ultrasound probe located longitudinally 2 cm lateral to the midline at the level of the L2-3 interspace. Tissue displacement within the thoracolumbar fascia was calculated using cross correlation techniques and shear strain was derived from this displacement data. Additional measures included standard range of motion and physical performance evaluations as well as ultrasound measurement of perimuscular connective tissue thickness and echogenicity. Thoracolumbar fascia shear strain was reduced in the LBP group compared with the No-LBP group (56.4% ± 3.1% vs. 70.2% ± 3.6% respectively, p < .01). There was no evidence that this difference was sex-specific (group by sex interaction p = .09), although overall, males had significantly lower shear strain than females (p = .02). Significant correlations were found in male subjects between thoracolumbar fascia shear strain and the following variables: perimuscular connective tissue thickness (r = -0.45, p < .001), echogenicity (r = -0.28, p < .05), trunk flexion range of motion (r = 0.36, p < .01), trunk extension range of motion (r = 0.41, p < .01), repeated forward bend task duration (r = -0.54, p < .0001) and repeated sit-to-stand task duration (r = -0.45, p < .001). Thoracolumbar fascia shear strain was ~20% lower in human subjects with chronic low back pain. This reduction of shear plane motion may be due to abnormal trunk movement patterns and/or intrinsic connective tissue pathology. There appears to be some sex-related differences in thoracolumbar fascia shear strain that may also play a role in altered connective tissue function

Pancreatic cancer as a sentinel for hereditary cancer predisposition

Background: Genes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) predisposition have been shown to play a role in pancreatic cancer susceptibility. Growing evidence suggests that pancreatic cancer may be useful as a sentinel cancer to identify families that could benefit from HBOC or CRC surveillance, but to date pancreatic cancer is only considered an indication for genetic testing in the context of additional family history. Methods: Preliminary data generated at the Huntsman Cancer Hospital (HCH) included variants identified on a custom 34-gene panel or 59-gene panel including both known HBOC and CRC genes for respective sets of 66 and 147 pancreatic cancer cases, unselected for family history. Given the strength of preliminary data and corresponding literature, 61 sequential pancreatic cancer cases underwent a custom 14-gene clinical panel. Sequencing data from HCH pancreatic cancer cases, pancreatic cancer cases of the Cancer Genome Atlas (TCGA), and an unselected pancreatic cancer screen from the Mayo Clinic were combined in a meta-analysis to estimate the proportion of carriers with pathogenic and high probability of pathogenic variants of uncertain significance (HiP-VUS). Results: Approximately 8.6% of unselected pancreatic cancer cases at the HCH carried a variant with potential HBOC or CRC screening recommendations. A meta-analysis of unselected pancreatic cancer cases revealed that approximately 11.5% carry a pathogenic variant or HiP-VUS. Conclusion: With the inclusion of both HBOC and CRC susceptibility genes in a panel test, unselected pancreatic cancer cases act as a useful sentinel cancer to identify asymptomatic at-risk relatives who could benefit from relevant HBOC and CRC surveillance measures.United States National Institutes of Health (NIH) National Cancer Institute (NCI) [R01CA164138]; NCI [P30CA042014]; Utah Genome Project; Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer program; Government of Canada through Genome Canada; Canadian Institutes of Health Research; Ministere de l'enseignement superieur, de la recherche, de la science, et de la technologie du Quebec through Genome Quebec; NIH NCI Cancer Center Support Grant [P30CA042014]; Huntsman Cancer Foundation; National Human Genome Research Institute [T32HG008962]Open access journal.This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Additional file 2: of Pancreatic cancer as a sentinel for hereditary cancer predisposition

Figure S1. The pancreatic cancer cases with Utah Population Database (UPDB) genealogies with cancer information. (JPG 847 kb

Additional file 3: of Pancreatic cancer as a sentinel for hereditary cancer predisposition

Table S4. Is a list of reports/genes used for meta-analysis. Table S5. is the values that were used to create Fig. 3. (DOCX 34 kb

Additional file 1: of Pancreatic cancer as a sentinel for hereditary cancer predisposition

Table S1. contains the list of the genes used in the study, as well as indicators for which pathway they belong to in subsequent analyses. Table S2. is the list of rare variants with corresponding in silico scores. Table S3. contains the total counts that were used to create Fig. 2. (XLSX 73 kb