Genetic Phenomena Commons^™

A Stakeholder-Informed Conceptual Framework For Evaluating Genomics In Precision Oncology, Julie A. Wiedower

All Dissertations

This dissertation explores the value of genomic testing in precision oncology with an emphasis on how US payers conceptualize and prioritize elements of value. This research aims to address gaps in understanding payer perspectives and proposes a stakeholder-informed framework for evaluating genomic testing in oncology. To achieve this aim, the presented research investigates payer perspectives, value-based cancer care priorities, and the conceptual understanding of the value of a genetic diagnosis to establish a framework for value with the payer audience in mind. Chapter 1 outlines relevant background information relating to the genomic revolution and challenges in translating genomic testing technologies …

Genetic Testing And Anorexia Nervosa: Knowledge, Attitudes And Awareness, Sarah Ramsay

All Dissertations

This dissertation consists of three parts, each building on the results of the former, evaluating the treatment and research of anorexia nervosa (AN) from a healthcare genetics perspective. These three parts are bookended by an introduction and a conclusion summarizing key findings and providing suggestions for future work. First, in order to assess how Severe and Enduring Anorexia Nervosa (SE-AN) is defined in the literature, and inclusion of those with SE-AN in genetics research, a comprehensive literature review was performed. The review found a lack of consistent identification and inclusion of the SE-AN subtype in AN genetic study participants. Second, …

Communication In Phelan-Mcdermid Syndrome: Assessment And Genotype-Phenotype Correlation, Sarah Quadri

All Dissertations

Phelan McDermid Syndrome (PMS) is a rare genetic disorder caused by deletions or mutations of the SHANK3 gene on chromosome 22q13.3. Language and communication impairment are hallmark features of PMS, and this dissertation aims to address the lack of consensus on appropriate methods for assessing these abilities and genotype-phenotype correlations of language and communication impairments in PMS.

The first chapter introduces PMS and associated language and communication impairment, identifies gaps in the literature, and shows how this research fills those gaps to advance our understanding of this rare genetic disease. The second chapter identifies and analyzes practices for assessing speech, …