Matching Items (4)
Filtering by
- All Subjects: Genetic Counseling
- Genre: Academic theses
- Creators: Ellison, Karin
- Creators: Wilson Sayres, Melissa A
- Member of: Theses and Dissertations
Description
ABSTRACT Whole genome sequencing (WGS) and whole exome sequencing (WES) are two comprehensive genomic tests which use next-generation sequencing technology to sequence most of the 3.2 billion base pairs in a human genome (WGS) or many of the estimated 22,000 protein-coding genes in the genome (WES). The promises offered from WGS/WES are: to identify suspected yet unidentified genetic diseases, to characterize the genomic mutations in a tumor to identify targeted therapeutic agents and, to predict future diseases with the hope of promoting disease prevention strategies and/or offering early treatment. Promises notwithstanding, sequencing a human genome presents several interrelated challenges: how to adequately analyze, interpret, store, reanalyze and apply an unprecedented amount of genomic data (with uncertain clinical utility) to patient care? In addition, genomic data has the potential to become integral for improving the medical care of an individual and their family, years after a genome is sequenced. Current informed consent protocols do not adequately address the unique challenges and complexities inherent to the process of WGS/WES. This dissertation constructs a novel informed consent process for individuals considering WGS/WES, capable of fulfilling both legal and ethical requirements of medical consent while addressing the intricacies of WGS/WES, ultimately resulting in a more effective consenting experience. To better understand components of an effective consenting experience, the first part of this dissertation traces the historical origin of the informed consent process to identify the motivations, rationales and institutional commitments that sustain our current consenting protocols for genetic testing. After understanding the underlying commitments that shape our current informed consent protocols, I discuss the effectiveness of the informed consent process from an ethical and legal standpoint. I illustrate how WGS/WES introduces new complexities to the informed consent process and assess whether informed consent protocols proposed for WGS/WES address these complexities. The last section of this dissertation describes a novel informed consent process for WGS/WES, constructed from the original ethical intent of informed consent, analysis of existing informed consent protocols, and my own observations as a genetic counselor for what constitutes an effective consenting experience.
ContributorsHunt, Katherine (Author) / Hurlbut, J. Benjamin (Thesis advisor) / Robert, Jason S. (Thesis advisor) / Maienschein, Jane (Committee member) / Northfelt, Donald W. (Committee member) / Marchant, Gary (Committee member) / Ellison, Karin (Committee member) / Arizona State University (Publisher)
Created2013
Description
Patients who attend genetic counseling appointments report high anxiety and varied satisfaction levels following their appointments. It has been suggested in previous literature that some of the increase in anxiety and reduction in satisfaction is caused by lack of prior information. Here, I investigated whether providing patients with a glossary of genetic terms prior to their counseling appointment improves patient satisfaction and reduces anxiety in an oncology genetic counseling appointment. I surveyed 96 patients attending their first genetic counseling appointment at Banner MD Anderson Cancer Center and analyzed 92 patients for which I had complete data. Patients were randomly selected to receive one of two folders, containing either an educational document or an educational document and a glossary comprised of ten genetic terms. Each patient was given a post-counseling survey at the end of the counseling appointment to assess their anxiety and satisfaction levels. I did not observe a statistically significant difference in levels of anxiety or satisfaction, but the data are consistent with increased satisfaction for patients who received a glossary. Interesting, the data are also consistent with decreased anxiety levels for patients who did not receive a glossary. Furthermore, I did observe differences in reported satisfaction with patients who had college experience and patients that did not have any college experience.
ContributorsPeon, Lidia Maria (Author) / Wilson Sayres, Melissa A (Thesis advisor) / Buetow, Kenneth H (Committee member) / Luiten, Rebecca C (Committee member) / Siettmann, Jennifer M (Committee member) / Arizona State University (Publisher)
Created2018
Description
In species with highly heteromorphic sex chromosomes, the degradation of one of the sex chromosomes can result in unequal gene expression between the sexes (e.g., between XX females and XY males) and between the sex chromosomes and the autosomes. Dosage compensation is a process whereby genes on the sex chromosomes achieve equal gene expression which prevents deleterious side effects from having too much or too little expression of genes on sex chromsomes. The green anole is part of a group of species that recently underwent an adaptive radiation. The green anole has XX/XY sex determination, but the content of the X chromosome and its evolution have not been described. Given its status as a model species, better understanding the green anole genome could reveal insights into other species. Genomic analyses are crucial for a comprehensive picture of sex chromosome differentiation and dosage compensation, in addition to understanding speciation.
In order to address this, multiple comparative genomics and bioinformatics analyses were conducted to elucidate patterns of evolution in the green anole and across multiple anole species. Comparative genomics analyses were used to infer additional X-linked loci in the green anole, RNAseq data from male and female samples were anayzed to quantify patterns of sex-biased gene expression across the genome, and the extent of dosage compensation on the anole X chromosome was characterized, providing evidence that the sex chromosomes in the green anole are dosage compensated.
In addition, X-linked genes have a lower ratio of nonsynonymous to synonymous substitution rates than the autosomes when compared to other Anolis species, and pairwise rates of evolution in genes across the anole genome were analyzed. To conduct this analysis a new pipeline was created for filtering alignments and performing batch calculations for whole genome coding sequences. This pipeline has been made publicly available.
In order to address this, multiple comparative genomics and bioinformatics analyses were conducted to elucidate patterns of evolution in the green anole and across multiple anole species. Comparative genomics analyses were used to infer additional X-linked loci in the green anole, RNAseq data from male and female samples were anayzed to quantify patterns of sex-biased gene expression across the genome, and the extent of dosage compensation on the anole X chromosome was characterized, providing evidence that the sex chromosomes in the green anole are dosage compensated.
In addition, X-linked genes have a lower ratio of nonsynonymous to synonymous substitution rates than the autosomes when compared to other Anolis species, and pairwise rates of evolution in genes across the anole genome were analyzed. To conduct this analysis a new pipeline was created for filtering alignments and performing batch calculations for whole genome coding sequences. This pipeline has been made publicly available.
ContributorsRupp, Shawn Michael (Author) / Wilson Sayres, Melissa A (Thesis advisor) / Kusumi, Kenro (Committee member) / DeNardo, Dale (Committee member) / Arizona State University (Publisher)
Created2016
Description
Informed Consent is a ubiquitous way of enshrining choice in the United States which regulates social relations in domains as varied as health, research, access to institutions, and prisons. Informed consent describes an imagined epistemic relationship between right knowledge and legitimate choice, where judgements of capacitation determine whether a person is the right sort of person to take up knowledge which will render them agential under conditions of asymmetrical power. It has been developed over and over to solve problems of injustice, where the injustice in question is understood in terms of undue infringement on individual autonomy, and the logic of informed consent is re-invented to reframe the problem at hand as a rightful matter of individual choice. It is imagined to respect autonomy, and to perform a transformative "moral magic" that makes the forbidden quotidian. This dissertation develops this account of informed consent through a series of cases, each of which explicates different aspects of the technopolitics of informed consent. It begins with genetic counseling as a paradigm case in the logic of informed consent: a well-developed field that emerged to inform people about genetics and genomics in the interest not only of individual reproductive choice, but in opposition to eugenic shaping of populations through genetic knowledge. Next, pro- and anti- abortion deployments of informed consent illustrate an epistemology of information itself, which is understood to agentialize as well as to serve as a site for refusing choice to those deemed incapacitated. Third, liability waivers and requests for student informed consent on university campuses during the pandemic show informed consent to be a tool for the exercise of biopolitics and, in particular, for making responsible subjects. Finally, civil libertarian opposition to migrant genetic testing on the grounds that migrants weren’t asked for consent demonstrates a tight coupling between consent, imaginations of just state-subject relations, and what it means to be recognized as a person. Ultimately, this dissertation argues for a practice of attention that sees informed consent as an important site for the exercise of power and offers frameworks for analyzing it as such.
ContributorsDietz, Elizabeth A (Author) / Hurlbut, Ben (Thesis advisor) / Reynolds, Joel M (Committee member) / Brian, Jennifer (Committee member) / Ellison, Karin (Committee member) / Arizona State University (Publisher)
Created2023