Genetics and Genomics 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. …

Missing Heritability In Congenital Disorders Of Glycosylation (Cdg) Iin: A Case Report, Tari Little

Human Genetics Theses

Congenital disorders of glycosylation (CDGs) are a rare group of genetic metabolic disorders characterized by defective glycoprotein biosynthesis. Given the prevalence of glycosylation pathways throughout the body, CDGs are considered multi-system disorders with a wide spectrum of clinical features. In this report, we present a patient with a clinical and biochemical diagnosis of SLC39A8-CDG but with only one identifiable coding variant in SLC39A8. A second heterozygous intronic variant of uncertain significance was identified by Whole Genome Sequencing (WGS). In comparison to previously reported cases of SLC39A8-CDG, our proband has a mild presentation with less severe developmental delay, motor disability and …

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 …

Carrier Screening For Women Undergoing Elective Oocyte Cryopreservation (Eoc): A Look At Practice Among Reproductive Endocrinologists At An Academic Fertility Clinic, Melissa Manuelli

Human Genetics Theses

Elective oocyte cryopreservation (EOC) is a process involving freezing and banking oocytes with the intention to be used in the future for pregnancy. Cryopreserving oocytes allows women to enhance their reproductive autonomy by reducing the effects of age-relatedfertility decline. Similarly, expanded carrier screening (ECS) completed prior to conception allows women to consider their full range of reproductive options including in-vitro fertilization (IVF) with preimplantation genetic testing (PGT), use of donor gametes, and prenatal testing and diagnosis. In this retrospective chart review, we examine carrier screening practices for 106 EOC patients, and an age-matched control group of 106 IVF patients who …

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 …

Towards The Growing Edge: Integrating Simulation In A Genetic Counseling Graduate Program, Cassandra Pisieczko

Human Genetics Theses

Simulation is a well-established learning practice in medical education; however, it is not well studied in genetic counseling. The current study utilizes action research to document and describe the implementation of a simulated patient (SP) program into the Joan H. Marks Graduate Program in Human Genetics curriculum. With the standards of genetic counseling training now including simulated patient encounters as participatory cases (ACGC 2019 and 2020), the utilization of SP methodology can be expected to grow. The goal of the study was to explore specific considerations of simulation in genetic counseling while meeting the standards of best practice laid out …

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 …

Primary Care For Disease Patients: Exploring Services Received, Healthcare Providers Involved, And Patient Satisfaction, Catherine Mayo, Eliana Kahan, Jasmine Chao

Human Genetics Theses

Rare disease is a significant healthcare burden, affecting an estimated 25-30 million U.S. citizens. This equates to 1 in 10 Americans, over half of which are children. It has been suggested that primary care can significantly aid the medical management of rare disease patients’ unique conditions, but data on the relationship between rare disease and primary care is limited. Current knowledge consists of physician opinion pieces and analyses of medical records, but it lacks patient-reported data and perspectives. For the first time, 282 U.S. patients with rare diseases were surveyed regarding which primary care services they were receiving and which …

Genetic Counselors' Views Of Traits That Make For Effective Leaders, Jennifer Rand

Human Genetics Theses

Genetic counseling is rapidly evolving as technology and services related to healthcare are developed and become a part of the healthcare industry. Because of its youth and rapid growth, there is currently no literature analyzing or describing leadership in genetic counseling as there is for nursing, surgical teams, or other more established fields of healthcare. Currently practicing genetic counselors were surveyed about their views of whether specific traits found to be valued in leaders in nursing were important in their bosses, institutional leaders, and genetic counseling professional society leaders. Likert scale responses were analyzed using descriptive and inferential statistics; qualitative …

An Investigation Into The Reasons Behind Quality Of Life Perception In Individuals With Hnpp As Compared To Individuals With Cmt1a, Caitlin Walsh, Sophia Rodriguez

Human Genetics Theses

Hereditary neuropathy with liability to pressure palsies (HNPP) and Charcot-Marie- Tooth Disease type 1A (CMT1A) are autosomal dominant hereditary neuropathies caused by different mutations in the PMP22 gene. The chronic features of CMT1A and HNPP are almost identical, leaving electrodiagnostic testing to assess nerve conduction as the vital distinguisher between these two diagnoses. Differing onset, duration and recovery, as well as genetic testing, can also help distinguish the diagnosis. Patients with CMT1A often have chronic and progressively worsening symptoms, whereas patients with HNPP experience transient, acute symptoms that may or may not be associated with pain and with possible milder …

Post Mortem Genetic Testing In Sudden Unexpected Death In Epilepsy [Sudep]: A Pilot Story, Yu An, Alejandra M. Cantú Villarreal

Human Genetics Theses

Sudden Unexpected Death in Epilepsy [SUDEP] is one of the major causes of death within the world population that has epilepsy (Partemi, et al., 2014). There is no clear consensus on the underlying mechanism and are theorized to be heterogeneous in nature (Nashef et al., 2012). Some of these mechanisms are cardiac arrhythmias, and dysfunctions in either the respiratory or brainstem arousal systems (Ruthirago et al., 2018). Postmortem testing could provide further understanding of SUDEP and could be used as an asset to medical examiners. In this study we seek to evaluate the utility of postmortem genetic testing as part …

The Career Arc Of Genetic Counselors: Trends, Transitions, And Motivations, Michael Peneycad, Wanchun Janice Smires, Kara Williams, Jovanni Cuevas

Human Genetics Theses

The field of genetic counseling has evolved much since the first graduate program in genetic counseling was founded in 1969 and the profession has quickly become one of the fastest growing in the country. There exists prior research on job satisfaction and recent career trends of genetic counselors; however, there have been only limited attempts to chronicle genetic counseling career arcs to our knowledge. By surveying alumni from the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, our study participants include genetic counselors who have been in the field from the earliest days of the profession. …

An Analysis Of Fitness Affiliated Direct-To-Consumer Genetic Tests, Karl N. Krahn, Nicole D. Wengrofsky

Human Genetics Theses

Based on current scientific literature, Direct-to-Consumer (DTC) genetic tests for fitness capability generally lack validation and have little predictive value. We aimed to evaluate DTC genetic fitness testing companies found through Google searches. Website information including genes tested and claims made by the companies was collected. In total, thirty-one companies were evaluated. Only 8 of 31 companies identify genes being tested and of these 8, only 4 cite any scientific literature. The 6 most common genes tested (MCGT) were ACE, ACTN3, AGT, FTO, IL6, a nd PPARG. The 5 most common claims (MCC) were genetically tailored nutrition, genetically tailored workout, …

Current Practices In Post-Mortem Cariogeentic Test-Ordering An Genetic Counseling In Cases Of Sudden Cardiac Death (Scd), Kiran Gangwani, Miranda Di Biase

Human Genetics Theses

This study aims to provide current insights into practice variation among genetic counselors (GC’s) and medical examiners (ME’s) with regards to post-mortem genetic testing in the context of Sudden Cardiac Death (SCD). Ninety total respondents (37 GC’s, 47 ME’s, 3 cardiologists, and 3 forensic pathologists) were surveyed, with questions addressing: who initiates testing and for what indications; what types of tests are ordered and how are they paid for; and what areas of the post-mortem genetic testing process need to be addressed in future studies for potential improvement. Significantly more GC’s ordered post-mortem genetic testing for SCDs than ME’s, with …

Test Ordering Practices In Cancer Genetic Counseling, Lauren Costantin, Tiana Grgas

Human Genetics Theses

The widespread use of Next Generation Sequencing (NGS) has allowed multi-gene panel testing to become common practice in clinical cancer genetic testing over the past six years. Over this time, guidelines have been established and modified, but there is no consensus on how panel testing should be utilized in cancer genetic counseling. There is also limited research into how cancer genetic testing is ordered among different providers. In our study, 1,402 cancer genetic tests were ordered by a variety of provider types from a large academic institution consisting of 16 private and public hospitals as well as a laboratory serving …

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 …

Psychosocial Outcomes Associated With Ctna-Based Cancer Screening Test, Gabrielle Shermanski, Simone Biggers

Human Genetics Theses

Due to the increasing incidence of cancer diagnoses and lack of validated screenings for most types of cancer, cancer researchers continue to look for ways to improve cancer screening particularly for cancers that are difficult to detect early. One early detection technology being researched is blood-based testing looking for the presence of DNA from tumor cells, circulating tumor DNA (ctDNA). With any new cancer screening test there is a need to understand how participants respond, socially and psychologically, to abnormal results. Participants in Geisinger’s DETECT study of a ctDNA test, CancerSEEK, who received positive ctDNA blood test results and opted …

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 …