University of Maine, Speech Therapy Telepractice and Technology Program Manual

Many children and adults with communication disorders, who live in Maine, do not receive speech therapy. Rural geography, a shortage of qualified speech-language pathologists, inadequate/costly transportation and inclement weather create significant challenges in reaching people in need of services. In response to this problem, an innovative graduate level telepractice training program in speech-language pathology has been developed at the University of Maine, Department of Communication Sciences and Disorders (CSD). The training program has three learning components: (1) Intensive Training, (2) Clinical Practicum, (3) Discussion Groups. These complementary activities are guided by ASHA (2005; 2013) requirements of knowledge and skills of speech-language pathologists in providing speech therapy telepractice clinical services and FERPA (1974), HIPAA (1996) and HITECH (1996) regulations. The University of Maine, Speech Therapy Telepractice and Technology Program manual provides the specific procedures used for training speech therapy telepractice to graduate students in Communication Sciences and Disorders. The manual contains a detailed outline and description of the program design, operational procedures, technology, equipment and forms used for training clinical competencies in speech therapy telepractice. Additionally, procedures and accompanying forms have been developed for outcomes measures including: Telepractice Practicum Evaluation form, eHelper Competencies, Supervisor Evaluation and Consumer Satisfaction.https://digitalcommons.library.umaine.edu/fac_monographs/1224/thumbnail.jp

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Abstract: Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Abstract Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer