First Advisor

Kim H. Brown

Date of Award

Winter 2021

Document Type

Thesis

Degree Name

Bachelor of Science (B.S.) in Biology and University Honors

Department

Biology

Language

English

Subjects

Human genetics, Genetic counseling

DOI

10.15760/honors.1167

Abstract

Genome-wide Sequencing provides an exciting opportunity for the future of genetic counseling. However, the efficacy of GWS in covering G-C rich regions of DNA, detection of variants, coverage of the exome, reanalysis, and identifying disease origin in non-coding regions of DNA remains to be proven. GWS provides a diagnostic success rate of 36-73% in pediatric cases and 50-67% of adult rare disease and alters the path of necessary care offered by genetic counselors. Limitations significantly hamper the success of GWS in a genetic counseling setting, such as difficulties in obtaining consent for testing and data storage, the high rate of incidental findings, cost of testing and insurance coverage, and underrepresentation in high-need populations. Additional large-scale studies are required to provide empirical evidence for the diagnostic ability of GWS along with the development of tools for genetic counselors to effectively provide clinical and psychosocial care for clients and institutional standards for variant calling and the handling of incidental findings.

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Persistent Identifier

https://archives.pdx.edu/ds/psu/36706

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