Purpose Genomic microarrays can detect copy number variants not detectable by conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even though the clinical implications of many copy number variants are currently unknown. We conducted a qualitative pilot study to explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting. Methods Participants were a subset of women participating in a multicenter prospective study “Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis”. Telephone interviews were conducted with 23 women receiving abnormal prenatal microarray results. Results We found that five key elements dominated the experiences of women who had received abnormal prenatal microarray results: an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge. Conclusion As prenatal microarray testing is increasingly utilized, uncertain findings will be common resulting in greater need for careful pre and post test counseling, and more education of, and resources for providers so they can adequately support the women who are undergoing testing.

The evidence-based review (EBR) process has been widely used to develop standards for medical decision-making and to explore complex clinical questions. This approach can be applied to genetic tests, such as chromosomal microarrays, in order to assist in the clinical interpretation of certain copy number variants (CNVs), particularly those that are rare, and guide array design for optimal clinical utility. To address these issues, the International Standards for Cytogenomic Arrays Consortium has established an EBR Work Group charged with building a framework to systematically assess the potential clinical relevance of CNVs throughout the genome. This group has developed a rating system enumerating the evidence supporting or refuting dosage sensitivity for individual genes and regions that considers the following criteria: number of causative mutations reported; patterns of inheritance; consistency of phenotype; evidence from large-scale case-control studies; mutational mechanisms; data from public genome variation databases; and expert consensus opinion. The system is designed to be dynamic in nature, with regions being reevaluated periodically to incorporate emerging evidence. The evidence collected will be displayed within a publically available database, and can be used in part to inform clinical laboratory CNV interpretations as well as to guide array design.

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The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium’s database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.

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Purpose The aim of this study was to assess knowledge, self-rated confidence, and perceived relevance of genetics in the clinical practice of audiologists and speech-language pathologists (SLPs) toward a better understanding of the need for genetics education, given that genetics plays a growing role in the diagnosis of hearing impairment and communication disorders. Method A survey consisting of 8 demographic items and 16 content questions was returned by 233 audiologists and 283 SLPs. Knowledge of applied genetics was queried with clinical scenarios in a multiple-choice format. Self-assessment of clinical confidence and perceived relevance of genetics in one's field was queried with questions and statements rated on 5-point Likert scales. The benefit of additional training in genetics was rated with a yes/no question, and if answered with yes, suggested topics were entered. Results A large significant gap between confidence in one's own genetics skills and the perceived relevance of genetics was evident, regardless of professional group. Over one third of the audiologists and over two thirds of the SLPs indicated low or somewhat low confidence in their own ability to implement principles of genetics, whereas over two thirds of both groups agreed that genetics is relevant for their field. Regardless of group, confidence scores were significantly and positively associated with relevance scores. Over 80% of respondents in both groups indicated that they would benefit from additional training in genetics. Most commonly suggested topics included genetic causes, general information about genetics, and making referrals. Conclusion Both audiologists and SLPs felt that genetics is relevant for their fields and that additional training in genetics would be beneficial. Future studies should evaluate the effect of genetics training on patient outcomes and the need for incorporating genetics more extensively into audiology and speech-language pathology training programs.

If you would like to write for this, or any other Emerald publication, then please use our Emerald for Authors service information about how to choose which publication to write for and submission guidelines are available for all. Please visit www.emeraldinsight.com/authors for more information. About Emerald www.emeraldinsight.comEmerald is a global publisher linking research and practice to the benefit of society. The company manages a portfolio of more than 290 journals and over 2,350 books and book series volumes, as well as providing an extensive range of online products and additional customer resources and services.Emerald is both COUNTER 4 and TRANSFER compliant. The organization is a partner of the Committee on Publication Ethics (COPE) and also works with Portico and the LOCKSS initiative for digital archive preservation. AbstractPurpose -This paper aims to present a case study of the Philadelphia region's efforts to implement a regional approach to economic development by relying on business-civic leadership to transcend governmental boundaries. Design/methodology/approach -The paper examines the role of leadership in organizations representing business interests, and the competing and conflicting perspectives on the "right" scale to do so -local and/or regional, drawing on participatory insights into the relevant processes. Findings -While ad-hoc partnerships and governance are often recognized as important elements of economic competitiveness for metropolitan areas by key civic and business leaders, established localist and institutional-organizational interests and strategies may counteract that. Overcoming long-established fragmentation requires a high level of attention to symbolism and the details of inclusiveness in organizational and spatial terms. Originality/value -The recognition and study of city-regional governance is very topical. The contribution of this paper is timely and offers a rare insight into the practical side of city-regional governance, thus illuminating theoretical arguments.

Background Although many efforts have been made to develop comprehensive disease resources that capture rare disease information for the purpose of clinical decision making and education, there is no standardized protocol for defining and harmonizing rare diseases across multiple resources. This introduces data redundancy and inconsistency that may ultimately increase confusion and difficulty for the wide use of these resources. To overcome such encumbrances, we report our preliminary study to identify phenotypical similarity among genetic and rare diseases (GARD) that are presenting similar clinical manifestations, and support further data harmonization. Objective To support rare disease data harmonization, we aim to systematically identify phenotypically similar GARD diseases from a disease-oriented integrative knowledge graph and determine their similarity types. Methods We identified phenotypically similar GARD diseases programmatically with 2 methods: (1) We measured disease similarity by comparing disease mappings between GARD and other rare disease resources, incorporating manual assessment; 2) we derived clinical manifestations presenting among sibling diseases from disease classifications and prioritized the identified similar diseases based on their phenotypes and genotypes. Results For disease similarity comparison, approximately 87% (341/392) identified, phenotypically similar disease pairs were validated; 80% (271/392) of these disease pairs were accurately identified as phenotypically similar based on similarity score. The evaluation result shows a high precision (94%) and a satisfactory quality (86% F measure). By deriving phenotypical similarity from Monarch Disease Ontology (MONDO) and Orphanet disease classification trees, we identified a total of 360 disease pairs with at least 1 shared clinical phenotype and gene, which were applied for prioritizing clinical relevance. A total of 662 phenotypically similar disease pairs were identified and will be applied for GARD data harmonization. Conclusions We successfully identified phenotypically similar rare diseases among the GARD diseases via 2 approaches, disease mapping comparison and phenotypical similarity derivation from disease classification systems. The results will not only direct GARD data harmonization in expanding translational science research but will also accelerate data transparency and consistency across different disease resources and terminologies, helping to build a robust and up-to-date knowledge resource on rare diseases.