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Full-Text Articles in Medicine and Health Sciences

Investigating The Experience Of Underrepresented Groups Applying To Genetic Counseling Training Programs, Enas Louzy-Hanna May 2021

Investigating The Experience Of Underrepresented Groups Applying To Genetic Counseling Training Programs, Enas Louzy-Hanna

Human Genetics Theses

The genetic counseling profession admitted to its lack of diversification more than 3 decades ago. However, even with the combined efforts of the profession’s top organizations, the National Society of Genetic Counselors (NSGC), the Association of Genetic Counseling Program Directors (AGCPD), and their members, the status of more than 90% homogenous majority workforce has persisted. It is judicious for the genetic counseling profession to rectify the inequity and unfairness aimed at discounted underrepresented groups within its own profession. Since the NSGC prioritized diversity, equity, and inclusion (DEI) issues in 2019, multiple studies have focused on revealing the barriers interfering with …


Attitudes And Actions Of Genetic Counseling Program Directors Regarding Standards For Accreditation Of Genetic Counseling Training Programs, Ben Newsum May 2021

Attitudes And Actions Of Genetic Counseling Program Directors Regarding Standards For Accreditation Of Genetic Counseling Training Programs, Ben Newsum

Human Genetics Theses

Academic accreditation is a common feature of higher education, with a moderate body of literature. Previous studies largely focus on factors that are crucial to the implementation or acceptance of standards. This study explored how education standards of genetic counseling are perceived and interacted with by program directors. We performed semi-structured interviews with current program directors, assistant directors, and associate directors to gain insight into their perspectives on current accreditation standards and the standards’ revision process. Interview transcripts were analyzed via thematic analysis to identify common themes related to program directors’ perceptions of the standards and accreditation as a whole. …


Genetic Counseling Around The Globe: Prenatal Screening Practices During The First Trimester, Anna Bauer, Dhart Adhia, Rachel K. Lanning, Jenny G. Zhang May 2021

Genetic Counseling Around The Globe: Prenatal Screening Practices During The First Trimester, Anna Bauer, Dhart Adhia, Rachel K. Lanning, Jenny G. Zhang

Human Genetics Theses

The global state of prenatal screening during the first trimester of pregnancy by genetics professionals has not yet been extensively studied. The current study explored whether carrier screening, biochemical marker screening, ultrasounds with nuchal translucency measurements, and non-invasive prenatal screening (NIPS) were offered as standard of care. It also examined whether the presence of established practice guidelines impacted their decision to offer testing as standard of care and screening reimbursement methods. Prenatal genetics providers, primarily genetic counselors, from 11 countries spanning 4 continents, were surveyed about the screening tests offered to the patients. Of the first trimester screening tests, NIPS …


The Impact Of A Lynch Syndrome Diagnosis By Population Genomic Screening On Family Communication, Medical Management, And Lifestyle Changes, Reem Ibrahim Bux, Brooke Nicole Delehoy May 2021

The Impact Of A Lynch Syndrome Diagnosis By Population Genomic Screening On Family Communication, Medical Management, And Lifestyle Changes, Reem Ibrahim Bux, Brooke Nicole Delehoy

Human Genetics Theses

The purpose of population genomic screening programs is to help in prevention and treatment of conditions that takes into account an individual’s unique genetics, environmental, and lifestyle factors. Through this “genome-first” approach, individuals at increased lifetime risk for certain conditions are identified, allowing them and their relatives to qualify for preventative medical care and surveillance (Schwartz et al., 2018). An example institution that utilizes this approach is Geisinger’s MyCode Community Initiative, where their goal is to “make healthcare better” through research and its application to patient care (MyCode Community Health Initiative, n.d.). MyCode reports back medically actionable results for conditions …


Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls May 2021

Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls

Human Genetics Theses

Rapid advancement of molecular genetics has transformed the diagnosis, treatment, and management of individuals with hereditary bleeding disorders. To provide effective, up-to-date genetic counseling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required. This study assessed the provision of genetic counseling services, the involvement of genetic counselors (GCs), and the perceived value of GCs within hemophilia treatment centers (HTCs) in the United States. A survey was emailed to 396 HTC providers. 115 responses were received, representing 68 of 149 U.S. HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement. Although …