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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

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
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The knowledge of medical genetics is currently used with prenatal testing, and the advancements in the field of behavioral genetics may someday allow for its use with prenatal testing as well. The use of prenatal procedures for medical phenotypes has its own implications and should these techniques be used for

The knowledge of medical genetics is currently used with prenatal testing, and the advancements in the field of behavioral genetics may someday allow for its use with prenatal testing as well. The use of prenatal procedures for medical phenotypes has its own implications and should these techniques be used for behavioral phenotypes, such implications can also apply. The complexity of behavior in terms of the factors that may affect it, along with the way it is conceptualized and perceived, adds further implications for prenatal testing of it. In this thesis, I discuss the qualitative, quantitative, and historical facets of prenatal testing for medical and behavioral phenotypes and the undercurrent of eugenics. I do so by presenting an example of the medical phenotype (cystic fibrosis) as a case for envisioning the implications of medical phenotypes before delving into examples of behavioral phenotypes (aggression, impulsivity, extraversion, and neuroticism) in order to explore the implications shared with those for medical phenotypes as well as those unique to it. These implications then set the foundation for a discussion of eugenics, and the considerations for how behavioral genetics with prenatal testing may give way to a modern form of it.
ContributorsMinai, Mandana (Author) / Maienschein, Jane (Thesis director) / Robert, Jason (Committee member) / Magnus, David (Committee member) / Barrett, The Honors College (Contributor) / School of Life Sciences (Contributor) / Department of Psychology (Contributor)
Created2014-05
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In vitro gametogenesis (IVG) research has been growing in countries like Japan, US, and China after the development of stem cell research and other scientific advancements as well as because of the perception of infertility as a domestic and international problem. IVG research’s progress has been deliberated internationally, with discussion

In vitro gametogenesis (IVG) research has been growing in countries like Japan, US, and China after the development of stem cell research and other scientific advancements as well as because of the perception of infertility as a domestic and international problem. IVG research’s progress has been deliberated internationally, with discussion of questions, challenges, and possibilities that have arisen and may arise in the future as the technology is adopted by different countries. The first section introduces the meaning of IVG, explains the importance of review by scientists and citizens for IVG, and describes a rise in infertility reported in multiple developed countries that could be addressed by IVG. The second section discusses IVG’s applications and implications using 5 ethical categories articulated by Obama’s Presidential Commission for the Study of Bioethical Issues: Public Beneficence, Responsible Stewardship, Intellectual Freedom and Responsibility, Democratic Deliberation, and Justice and Fairness. These five ethical principles were intended for analysis of emerging technologies, and IVG is an emerging technology with possible integration into clinical settings. Among the principles, it seemed that a major weak point of inquiry concerns LGBT+ and disability inclusion, especially of gender dysphoric and transgender people who may experience higher rates of infertility and have a harder time conceiving due to a mix of discrimination, gender dysphoria, and infertility due to hormone replacement therapy (HRT) treatment or gender/sex reassignment surgeries (GRSs/SRSs) that may impair or remove reproductive body parts. A number of other ethical considerations arise about this technology.
ContributorsVillarreal, Lance Edward (Author) / Maienschein, Jane (Thesis director) / Ellison, Karin (Committee member) / Wilson-Rawls, Jeanne (Committee member) / School of Life Sciences (Contributor, Contributor) / Barrett, The Honors College (Contributor)
Created2019-05
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Henry Herbert Goddard was a psychologist who conducted research on intelligence and mental deficiency at the Vineland Training School for Feeble-Minded Boys and Girls in Vineland, New Jersey during the early twentieth century. In 1908, Goddard brought French psychologist Alfred Binet and physician Theodore Simon’s intelligence test to the US

Henry Herbert Goddard was a psychologist who conducted research on intelligence and mental deficiency at the Vineland Training School for Feeble-Minded Boys and Girls in Vineland, New Jersey during the early twentieth century. In 1908, Goddard brought French psychologist Alfred Binet and physician Theodore Simon’s intelligence test to the US and used it to investigate intellectual disability in children at the Vineland Training School for Feeble-Minded Boys and Girls. Goddard also wrote a book in 1912 called The Kallikaks: A Study in the Heredity of Feeble-Mindedness, claiming that traits like mental deficiency were heritable traits. His observations and research led Goddard to advocate for sterilization and segregation of the intellectually disabled, which were ideas that reflected the emerging eugenics movement in the US, during the early nineteenth century. Although by the end of his life, psychologists largely dismissed Goddard’s work, schools and the US military used Goddard’s version of Binet and Simon’s intelligence test to identify mental deficiency.

Created2021-05-06
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In 2007, Françoise Baylis and Jason Scott Robert published “Part-Human Chimeras: Worrying the Facts, Probing the Ethics” in The American Journal of Bioethics. Within their article, hereafter “Part-Human Chimeras,” the authors offer corrections on “Thinking About the Human Neuron Mouse,” a report published in The American Journal of Bioethics in

In 2007, Françoise Baylis and Jason Scott Robert published “Part-Human Chimeras: Worrying the Facts, Probing the Ethics” in The American Journal of Bioethics. Within their article, hereafter “Part-Human Chimeras,” the authors offer corrections on “Thinking About the Human Neuron Mouse,” a report published in The American Journal of Bioethics in 2007 by Henry Greely, Mildred K. Cho, Linda F. Hogle, and Debra M. Satz, which discussed the debate on the ethics of creating part-human chimeras. Chimeras are organisms that contain two or more genetically distinct cell lines. Both publications discuss chimeras with DNA from different species, specifically in response to studies in which scientists injected human brain cells into mice. “Part-Human Chimeras,” contributes to a chain of ethical and scientific discussion that occurred in the mid-2000s on whether people should be able to conduct research on chimeras, especially in embryos.

Created2021-06-19
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In 2006, bioethicist Jason Scott Robert published “The Science and Ethics of Making Part-Human Animals in Stem Cell Biology” in The FASEB Journal. There, he reviews the scientific and ethical justifications and restrictions on creating part-human animals. Robert describes part-human animals, otherwise known as chimeras, as those resulting from the

In 2006, bioethicist Jason Scott Robert published “The Science and Ethics of Making Part-Human Animals in Stem Cell Biology” in The FASEB Journal. There, he reviews the scientific and ethical justifications and restrictions on creating part-human animals. Robert describes part-human animals, otherwise known as chimeras, as those resulting from the intentional combination of human and nonhuman cells, tissues, or organs at any stage of development. He specifically criticizes restrictions against creating part-human animals made by the National Academy of Sciences, or NAS, in 2005, arguing that while they ensure that such research is morally justifiable, they might limit scientists from conducting useful science using part-human animals or entities. Robert challenges the moral rationales behind prohibiting chimera research, arguing that they may impede scientists from conducting research that could have important benefits to biology and medicine, and suggests how to balance the conflicting moral and scientific needs of such science.

Created2021-05-25
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In May 1953, scientists James Watson and Francis Crick wrote the article “Genetical Implications of the Structure of Deoxyribonucleic Acid,” hereafter “Genetical Implications,” which was published in the journal Nature. In “Genetical Implications,” Watson and Crick suggest a possible explanation for deoxyribonucleic acid, or DNA, replication based on a structure

In May 1953, scientists James Watson and Francis Crick wrote the article “Genetical Implications of the Structure of Deoxyribonucleic Acid,” hereafter “Genetical Implications,” which was published in the journal Nature. In “Genetical Implications,” Watson and Crick suggest a possible explanation for deoxyribonucleic acid, or DNA, replication based on a structure of DNA they proposed prior to writing “Genetical Implications.” Watson and Crick proposed their theory about DNA replication at a time when scientists had recently reached the consensus that DNA contained genes, which scientists understood to carry information that determines an organism’s identity. Watson and Crick’s replication mechanism as presented in “Genetical Implications” contributed to the two scientists sharing a portion of the 1962 Nobel Prize in Physiology or Medicine. With their suggested DNA replication mechanism in “Genetical Implications,” Watson and Crick explained how genes are copied and passed along to new cells and organisms, thereby explaining how the information contained within genes is preserved through generations.

Created2020-01-13
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Charles Benedict Davenport, Madison Grant, and Henry Fairfield Osborn founded the Galton Society for the Study of the Origin and Evolution of Man, or the Galton Society, in New York City, New York, in 1918. The Galton Society was a scientific society that promoted the study of humans in terms

Charles Benedict Davenport, Madison Grant, and Henry Fairfield Osborn founded the Galton Society for the Study of the Origin and Evolution of Man, or the Galton Society, in New York City, New York, in 1918. The Galton Society was a scientific society that promoted the study of humans in terms of race in service to the US eugenics movement. The Galton Society was named in honor of Francis Galton who first coined the term eugenics in 1883. Galton and other eugenics proponents claimed that the human species could improve through selective breeding that restricted who could have children. Some of the society members were scientists from a wide range of disciplines who supported the now disproven notion that fundamental biological differences exist between races that may justify the control of human reproduction. The Galton Society drew on the scientific credibility and influence of its members to advocate for eugenics programs, such as immigration restriction laws, in the US.

Created2021-06-03
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Walter Jakob Gehring discovered the homeobox, a DNA segment found in a specific cluster of genes that determine the body plan of animals, plants, and fungi. Gehring identified the homeobox in 1983, with the help of colleagues while isolating the Antennapedia (Antp) gene in fruit flies (Drosophila) at the University

Walter Jakob Gehring discovered the homeobox, a DNA segment found in a specific cluster of genes that determine the body plan of animals, plants, and fungi. Gehring identified the homeobox in 1983, with the help of colleagues while isolating the Antennapedia (Antp) gene in fruit flies (Drosophila) at the University of Basel in Basel, Switzerland. Hox genes, a family of genes that have the homeobox, determine the head-to-tail (anterior-posterior) body axis of both vertebrates and invertebrates. Gehring also identified the homeobox-containing Pax-6 gene as the master control gene in eye development of Drosophila, the same gene that, when mutated or absent in humans, leads to aniridia, or lack of the iris, in humans. Gehring's work with the homeobox suggested to biologists that widely different species share a similar and evolutionarily conserved genetic pathway that controls the development of overall body plans, from fruit flies to humans.

Created2014-12-22
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In the early twentieth century, Paul Kammerer conducted a series of experiments to demonstrate that organisms could transmit characteristics acquired in their lifetimes to their offspring. In his 1809 publication, zoologist Jean-Baptiste Lamarck had hypothesized that living beings can inherit features their parents or ancestors acquired throughout life. By breeding

In the early twentieth century, Paul Kammerer conducted a series of experiments to demonstrate that organisms could transmit characteristics acquired in their lifetimes to their offspring. In his 1809 publication, zoologist Jean-Baptiste Lamarck had hypothesized that living beings can inherit features their parents or ancestors acquired throughout life. By breeding salamanders, as well as frogs and other organisms, Kammerer tested Lamarck's hypothesis in an attempt to provide evidence for Lamarck's theory of the inheritance of acquired characteristics. In particular, Kammerer argued that the inheritance of acquired characteristics caused species to evolve, and he claimed that his results provided an explanation for evolutionary processes through developmental phenomena.

Created2014-12-30