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Full-Text Articles in Life Sciences
Genetic Counselor’S Attitudes Toward Continuing Education Options, Kelsey Johnson, Jessica Shiles, Talya Boisjoli
Genetic Counselor’S Attitudes Toward Continuing Education Options, Kelsey Johnson, Jessica Shiles, Talya Boisjoli
Human Genetics Theses
With various aspects of contemporary clinical practice and the rapidly growing field of genomic medicine, genetic counselors are responsible for meeting ever-changing demands of providing up-to-date healthcare services. Continuing education and recertification play a significant role in this process. This study assessed genetic counselors’ attitudes towards continuing education options. A web-based survey was sent to NSGC members resulting in 358 responses. Respondents rated current continuing education options as “mildly convenient” and “mildly transferable” to daily practice. The three continuing education options can be ranked according to convenience, from most to least, as follows: Category 1; PACs; Category 2. The options …
The Value Of Performing A Post-Mortem Cardiovascular Genetic Panel Test, Elizabeth Manderski, Sarah Stewart
The Value Of Performing A Post-Mortem Cardiovascular Genetic Panel Test, Elizabeth Manderski, Sarah Stewart
Human Genetics Theses
Purpose: To determine the utility of a post-mortem 95 cardiac gene panel in the diverse NYC population through examining the positive phenotypic predictors of clinically actionable gene variants as in those with sudden death. Methods: 254 participants with sudden death underwent post-mortem testing through a 95 cardiac gene panel between Oct 2015-Feb 2018. NGS and variant interpretation was performed internally at the NYC Office of the Chief Medical Examiner (OCME) following ACMG guidelines. Medical information was collected from the OCME internal records. Chi-square tests were used to investigate categorical predictors of pathogenic genetic test results. Results: Of 319 genetic test …
Adolescent Perspectives On Genetic Testing For Huntington’S Disease, Katelyn Cooke, Elizabeth Crate, Ravneet Grewal, Jennifer Huynh-Lim
Adolescent Perspectives On Genetic Testing For Huntington’S Disease, Katelyn Cooke, Elizabeth Crate, Ravneet Grewal, Jennifer Huynh-Lim
Human Genetics Theses
In 2015, the American Society of Human Genetics (ASHG) released a position statement which recommended minors to defer genetic testing for adult-onset conditions until adulthood. In the 2016 DNA Day Essay Contest, high school students were asked to research an adult-onset genetic disorder and use it to formulate a stance on whether they agreed or disagreed with the position statement. Phase two of this study focused on the essays written about Huntington’s Disease (HD). Within the HD essays, 57% chose to defer, 35% chose not to defer, and 8% did not clearly state an opinion. Essays were analyzed using a …
Cardiovascular Genetics: Getting A “Pulse” On How Cardiologists Assess And Act On Cardiogenetic Findings That May Lead To Sudden Cardiac Death, Tamar Ailenberg, Anna (Schon) Levy, Samone Schneider
Cardiovascular Genetics: Getting A “Pulse” On How Cardiologists Assess And Act On Cardiogenetic Findings That May Lead To Sudden Cardiac Death, Tamar Ailenberg, Anna (Schon) Levy, Samone Schneider
Human Genetics Theses
Sudden cardiac death (SCD), defined as an unexpected death due to cardiac causes is the leading cause of non-random death in young athletes (Harmon et al., 2011). Current statistics suggest that 1 in 200,000 competitors experience SCD (Firoozi et al., 2003). Early detection of individuals with cardiac disease, such as Hypertrophic Cardiomyopathy (HCM) and Long QT syndrome (LQTS), can help prevent SCD, however, the heterogeneous presentation of heritable cardiovascular conditions makes them difficult to diagnose and prognose (O’Mahony et al., 2014). Thus, it is difficult to create universal activity restriction guidelines for at-risk athletes. This study examines practice variation among …
Accessibility Of Pregnancy Termination: A Pilot Study Of Genetic Counselors And Abortion Providers Throughout The United States, Lauren Facchini, Brianne Dingmann, Kaitlyn Brown, Laura Hercher, Caitlin Cooney, Komal Bajaj
Accessibility Of Pregnancy Termination: A Pilot Study Of Genetic Counselors And Abortion Providers Throughout The United States, Lauren Facchini, Brianne Dingmann, Kaitlyn Brown, Laura Hercher, Caitlin Cooney, Komal Bajaj
Human Genetics Theses
Recent literature suggests that availability and accessibility of pregnancy termination services affects patient care and decision-making. Because of this, there is a need to evaluate the impact of new legislation on accessibility. This study evaluated the accessibility of pregnancy termination throughout the United States by surveying prenatal genetic counselors and abortion providers. 116 responses from currently practicing prenatal genetic counselors and 30 responses from abortion providers within the United States were used in data analysis. Accessibility of pregnancy termination was assessed using the variables of cost, time, and distance. The degree of legislative impact was estimated using Guttmacher Institute’s Policy …
An Exploration Of Factors Influencing Patient Outcomes Of Psychiatric Genetic Counseling, Sarah Gerrard, Angela Inglis, Emily Morris, Jehannine Austin
An Exploration Of Factors Influencing Patient Outcomes Of Psychiatric Genetic Counseling, Sarah Gerrard, Angela Inglis, Emily Morris, Jehannine Austin
Human Genetics Theses
Though understanding how different characteristics of the patient and session influence outcomes of genetic counseling (GC) is important, little research data currently exits on this topic. We conducted a retrospective review of charts from patients who attended a specialist psychiatric GC clinic between February 1, 2012 and January 31, 2017. We extracted data to explore the effects of patient and sessionrelated variables on Genetic Counseling Outcome Scale scores (GCOS, validated instrument that measures empowerment). We used ANOVA to analyze the pre-, to one-month post-GC change in GCOS scores in relation to eleven variables. 307 charts were included in analysis. Overall, …
Role Of Genetic Counselors In Prenatal Zika Care, Monisha Sebastin, Erica Poole, Emily Goldberg
Role Of Genetic Counselors In Prenatal Zika Care, Monisha Sebastin, Erica Poole, Emily Goldberg
Human Genetics Theses
Zika virus (ZIKV) was first identified in 1945 in Uganda’s Zika forest. The 2015 Brazil outbreak identified the ZIKV as a teratogen, leading to a heightened awareness in prenatal care in the United States. ZIKV is primarily transmitted via mosquitoes; however, vertical transmission from mother to fetus has also been reported. Intrauterine fetal infection is associated with Congenital Zika Syndrome, characterized by severe microcephaly with loss of brain tissue, macular atrophy, postnatal hypertonia and limited joint movements. Given their expertise in prenatal education and teratogen counseling, genetic counselors (GCs) may be uniquely suited to provide prenatal ZIKV care. Our goal …
Genetic Counselors’ Preparedness For Incidental Findings From Non-Invasive Prenatal Testing, Janel Case, Paige Hazelton
Genetic Counselors’ Preparedness For Incidental Findings From Non-Invasive Prenatal Testing, Janel Case, Paige Hazelton
Human Genetics Theses
The use of non-invasive prenatal testing (NIPT) for aneuploidy screening has increased dramatically in the last five years due to its high sensitivity and specificity. However, testing cell free fetal DNA (cffDNA) opens the door to maternal incidental findings. This study aims to assess genetic counselors’ preparedness to respond to such incidental findings by surveying prenatal genetic counselors about their experiences with these cases. Surprisingly, 62% of the prenatal genetic counselors (89/143) in this study have encountered incidental findings in their practice, and many shared accounts of unique cases. In addition, participants were asked to respond to three hypothetical scenarios: …
Understanding Gene Panel Testing For Breast Cancer Risk, Angelina Tryon, Gord Glendon
Understanding Gene Panel Testing For Breast Cancer Risk, Angelina Tryon, Gord Glendon
Human Genetics Theses
Polygenic tests such as genome-wide small nucleotide polymorphism (SNP) risk testing, exome or genome sequencing are currently on the horizon for genetic testing for inherited cancer risk. We are unsure of how patients would accept this future genetic testing and the best way to fully understand the experience of undergoing a polygenic test for breast cancer risk is to explore the experience of women who have already undergone the process. In Ontario, these individuals are those who have already had gene panel testing (GPT). This group’s opinions and experiences will be directly related to the refinement and modification of the …
Current Attitudes And Practices In Genetic Counseling Concerning Noninvasive Prenatal Screening – A Follow Up Study, Carla Bennett, Abigail Whiting
Current Attitudes And Practices In Genetic Counseling Concerning Noninvasive Prenatal Screening – A Follow Up Study, Carla Bennett, Abigail Whiting
Human Genetics Theses
This study examines the opinions and usage of Noninvasive Prenatal Screening (NIPS) by genetic counselors (GCs). One hundred and three GCs were surveyed regarding their current practice involving NIPS, their opinion on offering it to all patients regardless of a priori risk, and their thoughts on future implications of the screening test. A significantly greater number of GCs are offering NIPS to all patients and believe in the implementation of universal NIPS, or NIPS for any patient no matter their risk, relative to a similar sample surveyed in 2015. Discordance between practice and belief remains an issue. Now more patients …
The Utility Of Genematcher: A Candidate Gene Database, Halie Holmes, Laura Fisher
The Utility Of Genematcher: A Candidate Gene Database, Halie Holmes, Laura Fisher
Human Genetics Theses
As the rate at which whole exome and genome sequencing is used in the clinical and research settings increases, the need for a system to share information obtained from these tests increases as well. GeneMatcher is a website platform that ‘matches’ individuals who are interested in sharing information about the same candidate gene. Using data collected by GeneDx, a clinical diagnostic laboratory, we assessed the outcomes of the matches made between external participants who reached out to GeneDx to discuss findings. Our assessment was made by sorting the outcomes of the discussions about ‘matches’ into three categories: ‘collaboration’, ‘one-off’, and …