Publications by authors named "Emily Debortoli"

Finite clinical genetics services combined with expanding genomic testing have driven development of mainstreaming models-of-care for genomic testing: specifically genetic counselor embedded (GEM) and upskilled-clinician (UPC) models. To determine feasibility, acceptability, and health economic impact in cancer mainstreaming settings we conducted a scoping review of the literature. A comprehensive PubMed search identified relevant manuscripts, published in English between 2013 and 2023.

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Genomic testing can inform the diagnosis and personalise management of cancers in children, adolescents, and young adults (CAYA). This scoping review explored the clinical utility and impact of genomic testing in general CAYA cancer cohorts. Relevant records published in English between 2017-2024 were identified by searching PubMed.

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Genetic counseling facilitates psychological and social adaptation in clients and families. Two psychotherapeutic approaches, narrative and family therapy foster client adaptation to adverse situations and may enhance the genetic counseling process. This scoping review aimed to describe the applications of narrative therapy and family therapy in genetic counseling, and to document the actual and perceived value of these approaches in a genetic counseling setting.

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is the second most frequently reported gene (after ) in familial melanoma. Pathogenic variants are associated with earlier onset and/or multiple primary melanomas (MPMs). To date, phenotypical reports have been largely restricted to associated malignancies, and description of the dermatological landscape has been limited.

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MITF E318K moderates melanoma risk. Only five MITF E318K homozygous cases have been reported to date, one in association with melanoma. This novel report uses 3D total-body-photography (TBP) to describe the dermatological phenotype of a homozygous MITF E318K individual.

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Background: Consumer engagement is increasingly recognized as an instrumental component of health research, with many institutions and international bodies mandating it as part of the research and funding process. Given an increasing utilization of consumer engagement in health research, it is critical to identify the literature which support its value and tools that capture successful outcomes. To develop an overview of the literature, we conducted an umbrella scoping review exploring important outcomes of consumer engagement in health research combined with a scoping review of relevant frameworks.

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