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Full-Text Articles in Genetics and Genomics
The Psychosocial Effects Of Next Generation Sequence Panels For Predictive Testing Of Hereditary Dementias, Dina Green
The Psychosocial Effects Of Next Generation Sequence Panels For Predictive Testing Of Hereditary Dementias, Dina Green
Human Genetics Theses
The current standard of care in offering predictive genetic testing for neurodegenerative diseases is that individuals wishing to have testing must have a known family mutation or well-documented family history of a specific disease. This model denies testing to individuals in families where the phenotype of the disease is less clear. However, NGS panel testing for many genes with overlapping phenotypes helps alleviate both the cost and tedious nature of a genetic “fishing expedition.” Panel testing increases the risk of receiving variants of unknown significance and, therefore, uncertainty. The goal of this research study is to examine the psychological impact …
Genetic Counselors’ Assessment Of Videos To Augment Whole Exome Sequencing Patient Education, Rebecca Hernan
Genetic Counselors’ Assessment Of Videos To Augment Whole Exome Sequencing Patient Education, Rebecca Hernan
Human Genetics Theses
Patient education for basic genetics as well as genetic testing options is a key role of a genetic counselor (GC). As whole exome sequencing (WES) becomes more commonly used in clinical care, an increased burden of genetic education is placed on both the GC and the patient due to the complexity of this test. One method to help alleviate this burden is the use of educational tools, these tools need to be assessed for their efficacy. There is a lack of research eliciting GCs’ opinion of educational tools intended for WES. The parents of minor patients evaluated at Columbia University …
Knowledge And Attitudes After Using Videos To Educate A Non-Clinical Cohort About Prenatal Cell-Free Dna Screening, Teresa Cacchione, Safa Yusuf
Knowledge And Attitudes After Using Videos To Educate A Non-Clinical Cohort About Prenatal Cell-Free Dna Screening, Teresa Cacchione, Safa Yusuf
Human Genetics Theses
Prenatal cell-free DNA (cfDNA) screening is now offered to pregnant women of all risk categories, creating a challenge in providing informed decision-making on a broad scale. Resources to support patient education, such as short educational videos, have been created to help ameliorate this issue but have not been formally evaluated. Thus, we sought to investigate the utility of videos in educating women about prenatal cfDNA screening and whether there were differences in knowledge and/or attitudes after viewing a video created by a non-profit genetics organization (Video A) versus a similar video created by a commercial testing company (Video B). Participants …
Adolescent Perspectives On Genetic Testing For Adult Onset Conditions, Olivia D’Accordo, Erin Davidson, Christina Miller, Yael Weinstein
Adolescent Perspectives On Genetic Testing For Adult Onset Conditions, Olivia D’Accordo, Erin Davidson, Christina Miller, Yael Weinstein
Human Genetics Theses
The American Society of Human Genetics (ASHG) recommends that testing for adult onset conditions be deferred until adulthood because of the potential for psychological harm combined with lack of medical utility. ASHG’s 2016 DNA Day Essay Contest asked 9- 12th graders to defend or refute this position. 1241 essays were submitted. 572 students defended ASHG’s position statement, while 554 argued against. Essays that addressed Alzheimer’s disease (AD) and BRCA-related Hereditary Breast and Ovarian Cancer syndrome were qualitatively analyzed for themes related to the argued position. 64.4% of students argued for deferred testing of AD, and 46.1% of students argued for …
Dna Unicorn: An N-Of-1 Community Advocacy Resource, Allison Knickle, Taylor Laut, Kari Magnussen, Marianne Vivien
Dna Unicorn: An N-Of-1 Community Advocacy Resource, Allison Knickle, Taylor Laut, Kari Magnussen, Marianne Vivien
Human Genetics Theses
With the wider use of genetic testing, an increasing number of people are receiving molecular diagnoses of ultra-rare or N-of-1 diseases. The medical and psychosocial challenges of these individuals are compounded by a lack of support and advice from disease-specific communities. A website ( www.dnaunicorn.org) was developed to help N-of-1 families connect with caregivers, researchers, and patients with the same or related medical conditions. The site provides directions and links to resources to facilitate data-sharing through access to databases, and aids in the construction of social media campaigns to connect genotypically- or phenotypically-related patients and families to each other. Furthermore, …
A Retrospective Chart Review Examining The Clinical Utility Of Family Health History, Katherine Dao, Julia Russo
A Retrospective Chart Review Examining The Clinical Utility Of Family Health History, Katherine Dao, Julia Russo
Human Genetics Theses
Family health history (FHH) is a simple and cost-effective clinical tool widely used by genetic professionals. Although the value of FHH for assessing personal and familial health and reproductive risk within a prenatal population has been demonstrated in past studies, its utility within a genetic carrier screening population has not been evaluated. The purpose of this study was to examine the utility of FHH as a clinical screening tool and explore the general outcomes of full FHH evaluations within an expanded carrier screening (ECS) population. A retrospective chart review was conducted for 500 consults, which included 3-generation pedigrees, using data …
Quality Of Life And Psychosocial Impacts Of Persons With A Genetic Predisposition To Thoracic Aortic Dissections Or Aortic Aneurysms, Megan Soucy, Amelia Tahmassi, Nathan Hassel
Quality Of Life And Psychosocial Impacts Of Persons With A Genetic Predisposition To Thoracic Aortic Dissections Or Aortic Aneurysms, Megan Soucy, Amelia Tahmassi, Nathan Hassel
Human Genetics Theses
BACKGROUND: Thoracic aortic dissections (TAD) and thoracic aortic aneurysms (TAA) can cause significant disabilities and premature sudden deaths. Modern advances in medicine and technology have increased the life expectancy for survivors of TAD or TAA; however, limited studies have measured the quality of life of affected individuals, especially those with genetically triggered aortic diseases. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) measured the Health Related Quality of Life (HRQoL) in survivors of a TAD or TAA. Another area of impact on quality of life includes depression. One accurate measurement for depression is the 16-item …
Genetic Counselor Drift: Exploring Contributors To The Recent Growth Of Non-Clinical Genetic Counseling Positions And The Resulting Impact On The Profession., Maki Kaneko, Robert Rigobello
Genetic Counselor Drift: Exploring Contributors To The Recent Growth Of Non-Clinical Genetic Counseling Positions And The Resulting Impact On The Profession., Maki Kaneko, Robert Rigobello
Human Genetics Theses
No abstract provided.
Self-Reported Patient Ethnicity In Genetic Counseling Practice: A Closer Look At Its Current Role And Room For Improvement, Sonya Elango, Isha Gupta
Self-Reported Patient Ethnicity In Genetic Counseling Practice: A Closer Look At Its Current Role And Room For Improvement, Sonya Elango, Isha Gupta
Human Genetics Theses
Despite the importance of patient ethnicity in clinical genetics, its usage in genetic counseling has not been characterized. This study looked at attitudes of genetic counselors (GCs) towards the role of patient self-reported ethnicity and its incorporation into their practice, specifically related to carrier screening. 475 GCs were recruited through the National Society of Genetic Counselors Listserv. Respondents answered an online survey consisting of qualitative and quantitative questions. Questions addressed how patient ethnicity is elicited and used in clinical practice. Case studies involving patients with varying ethnicities were presented for evaluation. Participants’ attitudes towards the use of ethnicity in clinical …
Preparing Genetic Counselors For Patient Disclosure Of Intimate Partner Violence: An Assessment Of An Intervention Toolkit, Tawanna St. Lewis, Scott Robinson
Preparing Genetic Counselors For Patient Disclosure Of Intimate Partner Violence: An Assessment Of An Intervention Toolkit, Tawanna St. Lewis, Scott Robinson
Human Genetics Theses
The Center for Disease Control (CDC) defines intimate partner violence (IPV) as physical, sexual, or psychological harm by a current or former partner or spouse (Breiding, Basile, Smith, Black, & Mahendra, 2015). Intimate Partner Violence (IPV) can occur among heterosexual or same-sex couples and does not require sexual intimacy. Studies conducted by the CDC in 2011 found that IPV affected approximately 29% of women and 10% of men in the U.S. When considering the relationship between IPV disclosure to healthcare providers and the receipt of intervention, McCloskey et al. found that patients who spoke with their healthcare providers about IPV …
Evaluating Frame (Faces Redefining The Art Of Medical Education) Videos: The Impact Of Digital Storytelling On Medical Students’ Attitudes To Disability And Their Learning Preferences, Shreya Malhotra
Human Genetics Theses
FRAME (Faces Redefining the Art of Medical Education) is a web-based platform created by Positive Exposure, a non-profit organization. FRAME uses digital story telling (DST) by presenting short educational films and image galleries aimed to help healthcare professionals and students gain an understanding of genetic conditions and disability. Families demonstrate hallmark characteristics in the context of a story to make the video educational and true to life. The purpose of this study was to evaluate the effectiveness of FRAME videos for 22q11.2 deletion syndrome (22q11.2 DS) and familial dysautonomia (FD) in improving students’ attitudes about disability. Fourth year medical students …