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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

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
Studying human genetic variation opens the possibility of understanding the details of population migrations, how humans develop and function, and why they get sick. To fully understand these things, genetic variation must be comprehensively characterized across globally diverse human populations and evolutionary knowledge can be used to inform studies of

Studying human genetic variation opens the possibility of understanding the details of population migrations, how humans develop and function, and why they get sick. To fully understand these things, genetic variation must be comprehensively characterized across globally diverse human populations and evolutionary knowledge can be used to inform studies of disease. In my dissertation I use computational methods to study human genetic variation. Each of my dissertation chapters focuses on a unique topic in the field of human evolutionary genetics. In the first chapter, I present PopInf, a computational pipeline to visualize principal components analysis output and assign ancestry to samples with unknown genetic ancestry, given a reference population panel of known origins. This pipeline facilitates visualization and identification of genetic ancestry across samples, so that this ancestry can be accounted for in studies of health and disease risk. In the next chapter, I investigate factors that shape patterns of genetic variation within and among four small-scale pastoral populations in northern Kenya. I find that geography predominantly shapes patterns of genetic variation in northern Kenyan human populations. In the next chapter, I investigate the extent to which Neanderthal introgression impacts liver cancer etiology. I find a pattern of overall enrichment of somatic mutations on Neanderthal introgressed haplotypes. Finally, through simulations, I investigate the effects of standard autosomal versus sex chromosome complement-informed alignment, variant calling and variant filtering strategies on variants called on the human sex chromosomes. I show that aligning to a reference genome informed on the sex chromosome complement of samples improves variant calling on the sex chromosome compared to aligning to a default reference, and variant calling is improved in males when calling the sex chromosomes haploid rather than diploid and when using haploid-based thresholds for filtering variants on the sex chromosomes. I provide recommendations for alignment, variant calling and filtering on the sex chromosomes based on these findings.
ContributorsOill, Angela Maria (Author) / Wilson, Melissa A (Thesis advisor) / Stone, Anne C (Thesis advisor) / Buetow, Kenneth H (Committee member) / Mathew, Sarah (Committee member) / Pfeifer, Susanne P (Committee member) / Arizona State University (Publisher)
Created2022