Life Sciences Commons^™

Simulated Patient Case Development For Cultural Competency Training Of Genetic Counseling Students, Makenzie Woltz

Human Genetics Theses

One of the Accreditation Council for Genetic Counseling (ACGC) practice-based

competencies for genetic counselors is “Apply genetic counseling skills in a culturally

responsive and respectful manner to all clients.” Yet, the extent and approach in which cultural competency training is incorporated into genetic counseling training programs varies greatly. Simulated patients have been increasingly used in genetic counseling training to help students practice foundational skills in a low stakes environment. The goal of this project is to develop a clinical case for simulation that can be used as an intervention for cultural competency training of genetic counseling students. Christensen’s workbook and …

Restrictions On Abortion Affect Genetic Counseling Practice: Genetic Counselors In Abortion Unfriendly States Reflect On Current And Impending Challenges, Grace Amelia Getchell, Sofia Angela Horan

Human Genetics Theses

Genetic counselors (GCs) play an important role in providing and coordinating care for patients considering abortion care secondary to fetal anomaly and/or genetic diagnosis. Restrictive legislation affecting abortion access in the United States has increased in recent years. Only a few studies have analyzed the effects of restrictive legislation on GCs. This study aimed to understand how prenatal GCs’ practice is impacted by restrictive legislation and how GCs are preparing for more restrictive legislation. Thirty-four qualitative interviews were conducted with GCs practicing in Texas, as well as states categorized as “leans hostile,” “hostile,” and “very hostile” by the Guttmacher Institute. …

Script Concordance Testing In Genetic Counseling Training: A Pilot Study, Yakira Begun, Lila Rae Stange

Human Genetics Theses

Clinical decision-making has been successfully measured by script concordance testing in various healthcare training programs; it has never been used in genetic counseling education. The aim of this pilot study was to assess script concordance testing in the field of genetic counseling as an objective measure of clinical reasoning in trainees. The script concordance test was administered to 22 second year genetic counseling students in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. 12 genetic counselors served on a panel to provide expert judgment responses, and a scoring grid was developed using the Aggregate Scores …

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 …

Relationship Between Outcomes Of Psychiatric Genetic Counseling And Time Since Onset And Diagnosis Of Psychiatric Illness, Sarah Saxton

Human Genetics Theses

Research shows that psychiatric genetic counseling (pGC) improves outcomes for patients. We conducted a retrospective chart review study to examine the relationship between outcomes of pGC and time since onset and/or diagnosis of psychiatric illness at a specialist pGC clinic. Specifically, we examined change in empowerment scores (as measured by the Genetic Counseling Outcome Scale (GCOS) prior to (T1) and approximately one month after the pGC appointment (T2)), in relationship to: a) time since symptom onset (TSO) and b) time since psychiatric diagnosis (TSD). Linear regression was used to determine the relationship between TSO and/or TSD and GCOS change, and …

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 …

Exploration Of Patient Attitudes Toward Receiving Incidental Diagnoses Of Lysosomal Storage Disorders Through Expanded Carrier Screening, Ally Abbott, Xindi Song

Human Genetics Theses

The increased prevalence of expanded carrier screening (ECS) has made it possible for individuals to receive incidental diagnoses of genetic conditions through prenatal or preconception screening that was originally intended to assess risk for genetic conditions in future offspring. The inclusion of genetic conditions with variable expressivity and late-onset phenotypes, such as certain lysosomal storage disorders, have increased the likelihood that this type of screening will result in an incidental diagnosis. Four participants from the lysosomal storage disorders program at NYU Langone Health were interviewed to elicit their psychological reaction to incidental diagnoses of Gaucher Disease Type 1, Fabry Disease …

Recall Of Informed Consent For Prenatal Aneuploidy Screening, Taylor Cain, Michelle Kao, Elena Cothalis, Pranali Shingala

Human Genetics Theses

Several forms of prenatal screening and diagnostic testing are available that can provide information about the likelihood of a genetic or chromosomal condition in pregnancy. Each of the available technologies entail unique benefits and limitations, and patient comprehension of the differences among these tests is crucial to uphold the principle of informed consent. The primary research goal of our study was to establish what women recall of the benefits, risks, and limitations of the prenatal aneuploidy screening they were offered as a part of their prenatal care by their medical provider. A total of 349 women were surveyed and 182 …

Disability Service Learning: A Study On The Potential Impact Of An Educational Intervention On The Attitudes And Biases Of Genetic Counseling Students Toward Disability, Michelle Bina, Lucas Hollifield

Human Genetics Theses

Disability and how it is perceived and discussed has deep relevance to the practice of genetic counseling. Disability communities have expressed concerns with genetic counseling and the dissemination of misinformation surrounding disability, leading to discrimination and intolerance of diversity (Parens & Asch, 2003). In 2015, the Joan H. Marks Graduate Program in Human Genetics (JHMGPHG) at Sarah Lawrence College implemented coursework and internships for students in order to address these concerns under the educational intervention titled Disability Service Learning (DSL). This study aims to determine what impact this educational intervention has on the Sarah Lawrence genetic counseling students’ attitudes and …

Exploring Perceptions Of What Genetic Counseling Is Amongst Families Affected By Genetic Conditions, Who Have Not Yet Had Genetic Counseling Themselves, Stephanie Briana Cordeiro

Human Genetics Theses

This study aimed to understand the perceptions and expectations that individuals who are affected or who have a genetic condition have about genetic counseling. This was a qualitative study that aimed to improve understanding of the layperson’s perception of genetic counseling using interviews with participants. Interviews were conducted at Cardiff University in Cardiff, Wales. Interview transcripts were analyzed using thematic analysis to identify common themes amongst the participants’ perceptions and to assess where these perceptions differ from professional definitions of genetic counseling. Themes were analyzed using the five dimensions of empowerment. The omnipresent theme among the study was the expectation …

Genetic Counseling Approaches To Moderate-Penetrance Breast Cancer, Tanaya Shroff, Elizabeth Del Buono

Human Genetics Theses

ATM, CHEK2, and PALB2 are considered to be moderate-penetrance breast cancer susceptibility genes (MPBCSGs). MPBCSG mutation-carriers are predicted to have a lower risk for breast cancer than carriers of mutations in genes such as BRCA1, BRCA2, and other high-penetrance breast cancer susceptibility genes. Ninety-one practicing genetic counselors were surveyed to investigate genetic counselor utilization of the NCCN guidelines and recommendations for carriers of ATM, PALB2, and CHEK2 based on personal and family history of breast cancer. Although the majority indicated that they would follow the guidelines regardless of personal or family history of breast cancer, some genetic counselor recommendations exceeded …

Assessing The Impact Of Predictive Testing Protocols On Provider Burden For Huntington's Disease, Paige Ernste, Abigail Patenaude

Human Genetics Theses

Predictive testing for HD creates a potentially significant psychological burden on patients and their families, and in turn, the emotional strain of working with at-risk individuals may take a toll on providers. Protocols have been established by the HDSA that emphasize the importance of genetic counseling and support for individuals undergoing testing. Recently, the HDSA’s guidelines have switched from recommending a 3-visit protocol to a 2-visit protocol. Little is known about the effect of this change on genetic service providers, their practice, their perception of the patient experience, or the impact of their choice of protocol in terms of the …

Descriptive Analysis Of The Testing Outcome Populations Of A Highly Facilitated Cascade Genetic Testing Framework For Cancer Predisposition, Samantha R. Anderson

Human Genetics Theses

This research analyzes the demographic determinants of testing uptake in a highly facilitated cascade testing protocol pilot effort for families with inherited cancer-predisposing mutations. The program provided no-cost genetic testing to the family members of mutation carriers using direct contact, telephone genetic counseling, and mailed saliva kits. This facilitated intervention resulted in high uptake of testing for second degree relatives and reduced sex-based risk disclosure. Uptake rates were highest among females and older individuals. Young Caucasian males were most likely to decline testing. Contact was limited for non-Caucasian and international individuals with low English-language proficiency, resulting in lower uptake rates …

Genetic Counseling Students’ Attitudes Towards Psychiatric Illness, Rebecca Haegedorn, Patricia Thompson

Human Genetics Theses

Mental illness is very common, with some estimates that up to 50% of the population will experience a diagnosable mental illness in their lifetime (Moffitt et al., 2010). Because of this, genetic counselors are likely to come across mental illness in patients throughout their careers. Stigma towards mental illness is a well-documented phenomenon, both in society and in the healthcare field (Mann & Himelein, 2004; Nordt, Rӧssler, & Lauber, 2006; Reavley & Jorm, 2011). It is possible that estimates of negative attitudes and stigma collected from genetic counseling trainees in past studies are underestimates, as they have relied on measures …

Should Genetic Information Be Used To Determine Special Education Eligibility And Other Educational Services?, Nicholas Staropoli

Human Genetics Theses

Clinically, genetic testing is recommended for all children who have been diagnosed with autism. However, genetic testing is no longer being used solely as a medical tool and social uses of this are being introduced, such as in educational settings. But using this information to determine who is eligible for educational services introduces a litany of ethical, legal and social issues. We recruited 400 parents to complete an online survey to gauge their opinions on using genetic information to determine special education eligibility and other school services for children with autism. Overall, the 77.3% of parents were in support of …

Parental Perception Of Pediatric Clinical Exome Sequencing In A Latino Population, Daniel Luksic, Radha Sukhu

Human Genetics Theses

Clinical exome sequencing (CES) is an established method for genetic diagnosis that is commonly used in clinical practices. Studies examining the CES experience for families have primarily been non-Latino white participants who speak English. To begin to address how these experiences may differ in other populations, we conducted in-depth semi-structured interviews. Interviews were completed with 22 Latino parents (14 in English; 8 in Spanish) of children who had pediatric CES at Columbia University Medical Center and received results within three to 20 months of the interview. We also measured acculturation with a standardized scale. Similar to prior studies, parents reported …

Attitudes Of Healthcare Professionals Towards The Utilization Of Genetics Professionals Following The Diagnosis Of Autism Spectrum Disorder, Sydney Alexandra Lau, Tova Lejtman Wagner

Human Genetics Theses

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by social communication deficits and repetitive behaviors. A diagnosis of ASD can be made by various healthcare professionals, including developmental pediatricians, child neurologists, child psychiatrists, and child psychologists. As there is a significant genetic component to ASD, many professional organizations recommend that individuals diagnosed with ASD undergo some form of genetic testing; notably, psychological organizations do not make any such recommendation. Nevertheless, current literature has shown that most patients are not referred to genetics. This study compared the utilization of genetic professionals by physicians and psychologists. It was hypothesized …

Sun Exposure As A Risk Factor For Precipitating Vision Loss For Individuals With Lhon Mitochondrial Variants, Michelle Kowanda

Human Genetics Theses

Vision loss in Leber hereditary optic neuropathy (LHON, OMIM# 535000) is caused by pathogenic LHON associated mitochondrial DNA (mtDNA) variants that are often considered to be triggered by a second environmental stress (genotype-­ environmental double hit). A few studies have demonstrated associations between the onset of LHON vision loss and specific environmental stresses such as tobacco or alcohol use. Other plausible triggers, such as UV exposure through sunlight, has not yet been studied. The purpose of this study was to survey LHON patients’ lifestyle and habits to investigate the risk of light exposure on this population, including the correlation of …

Genetic Counseling Referrals And Genetic Profiles Of Male And Young Female Breast Cancer Populations, Ji-Sun Kim

Human Genetics Theses

Genetic counselling and genetic testing of breast cancer patients can be helpful in estimating recurrence risks and guiding clinical management. Genetic testing results are useful for family members and their medical decisions as well. However, not all breast cancer patients are eligible for genetic counselling, but must meet eligibility criteria in Ontario to be referred. We studied two groups of patients – male breast cancer patients and young female patients aged 35 or under – who make up of a small subset of overall breast cancer patients. These groups should be offered genetic testing irrespective of family history. They could …

Exploring The Implementation Of Non-Traditional / Expanded Training For Genetic Counselors, Katia Dergham

Human Genetics Theses

With over a third of Genetic Counselors working in a Non-Traditional or expanded role, there is no denying that their knowledge and skills are transferable and being increasingly applied to roles outside the clinic. However, as of 2018, the Accreditation Council for Genetic Counselors (ACGC) practice standards require 50 core cases from a clinical setting while placements outside the clinic, such as a laboratory, research studies, or public health settings are considered enhancements, not requirements. Yet, the ACGC also states that “training should reflect current trends in the workplace,” leaving it up to training programs to decide how best to …

Adolescents’ Attitudes Towards Direct-To-Consumer Genetic Testing, Carli Andrews, J. Fitzpatrick Doyle, Rebekah Hutchins, Katherine Orr

Human Genetics Theses

The direct-to-consumer (DTC) industry is about a decade old; however, recent years have seen an increase in visibility and uptake due to decreasing prices, television advertisements, and other factors. In the 2018 DNA Day Essay Contest, high school students were asked to research a genetic disorder and to formulate a stance on whether medical professionals should be required for all genetic testing or if consumers should have access to direct-to-consumer testing. Within the 400 coded essays, 80.5% said yes to having a medical professional required and 20.5% said no. Qualitative analysis of the essays revealed the following major themes: benefit …

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

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

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

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

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

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

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

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

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 …