Holly Snyder

BACKGROUND: Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally. METHODS: We conducted exome sequencing and diagnostic analysis in two cohorts totaling 3315 patients with chronic kidney disease. We assessed the diagnostic yield and, among the patients for whom detailed clinical data were available, the clinical implications of diagnostic and other medically relevant findings. RESULTS: In all, 3037 patients (91.6%) were over 21 years of age, and 1179 (35.6%) were of self-identified non-European ancestry. We detected diagnostic variants in 307 of the 3315 patients (9.3%), encompassing 66 different monogenic disorders. Of the disorders detected, 39 (59%) were found in only a single patient. Diagnostic variants were detected across all clinically defined categories, including congenital or cystic renal disease (127 of 531 patients [23.9%]) and nephropathy of unknown origin (48 of 281 patients [17.1%]). Of the 2187 patients assessed, 34 (1.6%) had genetic findings for medically actionable disorders that, although unrelated to their nephropathy, would also lead to subspecialty referral and inform renal management. CONCLUSIONS: Exome sequencing in a combined cohort of more than 3000 patients with chronic kidney disease yielded a genetic diagnosis in just under 10% of cases. (Funded by the National Institutes of Health and others.).

Next generation sequencing (NGS) is dramatically increasing the number of clinically available genetic tests and thus the number of patients in which such testing may be indicated. The complex nature and volume of the reported results requires professional interpretation of the testing in order to translate and synthesize the meaning and potential benefit to patients, and genetic counselors are uniquely suited to provide this service. The increased need for genetic counselors in this role, coupled with the time required and a limited number of trained and available counselors presents a challenge to current models for making genetic testing available to patients and their healthcare providers effectively and efficiently. The employment of genetic counselors at genetic/genomic laboratories is one model to expand the resources for providing this service. In this article, we briefly review the advent of NGS and its clinical applications, examine the core skills of genetic counselors and delineate the expanding roles and responsibilities of laboratory-based genetic counselors. We also propose changes to the genetic counseling training program curriculum to account for the increasing opportunities for genetic counselors to contribute and thrive within genetic testing laboratories.

Nearly 350 million people worldwide are affected by a rare disease (RD) and ~80% of RDs have a genetic type, underscoring the need for access to reliable genomics education. Patient assistance in resource development can help ensure content is appropriate. The aim of this study was to define the needs and practical usage of the RD community to inform the scope and content of an online genetic course targeted toward the entire RD ecosystem. A high-level online survey (OS) was disseminated to 586 RD patients and family members/caregivers. A total of 251 individuals responded to the OS. Eight respondents were invited to participate in a follow-up focus group (FG). Nearly 87% of OS respondents have made efforts previously to learn more about genetics and 95.6% indicated a current interest in genetic education. Navigating healthcare systems, information sharing, and advocacy support were driving factors for this desire. Respondents indicated difficulty finding information on gene function, genetic testing, disease pathogenesis, and scientific advances. FG outcomes dove deeper into psychological needs including reducing emotional burden, alleviating fear of the unknown and seeking hope. Research identified high levels of interest in genetic education across all stages of the RD journey. Key themes identified in this study may help guide genetic counselors as they create their own patient and family-facing content.

s Teaching Support Services Program investigates the teaching practices and support needs of collegiate instructors.Our most recent project in this program, "Supporting Teaching with Primary Sources," focused on identifying how to effectively support instructors and their students find, access, and use primary sources in classroom environments.Encounters with primary sources-historical or contemporary artifacts that bear direct witness to a specific period or event-are central to the pedagogy of many disciplines, especially in the humanities and humanistic social sciences.Their use in undergraduate instruction aligns with universities' commitments to experiential and inquiry-based learning and library initiatives focused on media and information literacy.Reflecting the importance of the topic within higher education, "Supporting Teaching with Primary Sources" attracted the largest cohort of any Ithaka S+R program to date.Research teams at 26 academic libraries in the United States and United Kingdom joined the program.ProQuest, which sponsored the project, conducted interviews with instructors at an additional 16 universities.Together, the 27 research teams interviewed 335 instructors, asking detailed questions about how instructors design courses and assignments utilizing primary sources, and where and how instructors and their students discover and access primary sources appropriate for classroom use.These transcripts yielded rich data about how stakeholders-including university libraries, faculty, administrators, publishers, and professional organizations-can best support undergraduate instruction using primary sources.Detailed findings and actionable recommendations can be found in the body of this report.Our findings and recommendations are grouped around the following important challenges and emerging best practices:▪ Identifying appropriate primary sources.While digitization has made a wide variety of primary sources available to instructors, discovery tools are rarely optimized to make it easy for instructors to locate resources appropriate for classroom use.▪ Students' skills at discovering and evaluating primary sources.Students often lack familiarity with relevant search tools and strategies to discover sources and struggle to evaluate the value of the sources they do find.Maximizing student learning requires instruction in both the technical knowledge of discovery and information literacy.▪ Integrating primary sources requires careful course design.Effective pedagogy often involves scaffolding exposure to primary sources both within courses and across curricula, but many instructors default towards proscribing which sources students use, especially in large introductory classes.▪ Students benefit from exposure to both physical and digital sources.Physical encounters with material sources are highly-valued by instructors for inspiring student curiosity, but digital sources expand student access and the depth of library collections.▪ Collaboration pays dividends.Teaching effectively with primary sources requires many forms of knowledge and expertise.Long-term relationships between instructors, librarians, archivists, and museum staff are particularly likely to lead to the scaffolded exposure to primary sources that seems best suited to optimal student learning outcomes.