Human Genetics ETDs

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On the Development of Psychosocial Skills in Genetic Counseling Programs: Perspectives from Recent Graduates
(2021-05-01) Johnson, Emily; Morrice, Daniel
ABSTRACT The Accreditation Council for Genetic Counseling (ACGC) has listed psychosocial skills as one of the domains of Practice Based Competencies (PBC) which are expected competencies for an entry-level genetic counselor. To gain understanding of how students are trained in psychosocial skills and determine practitioner attitudes on these skills, 25 genetic counselors in their first one to two years of practice were interviewed remotely. A total of 19 unique training programs and all major subspecialties were represented in the sample. Interviews were transcribed and coded for major themes relating to attitudes, training techniques, and opinions on effectiveness of training. These data suggest that experiential training is highly effective, the majority of genetic counselors think psychosocial skills are very important, and that the supervisor-supervisee relationship highly influences the development of psychosocial skills.
Lessons Learned from COVID-19: Genetic Counseling Adaptations and Challenges to Alternate Service Delivery Models
(2021-05-01) Rekab, Aisha; Nguyen, Angel
The COVID-19 pandemic has led to the rapid adoption of telegenetics service delivery models (SDMs) by the genetic counseling field. While previous studies addressed the transition to virtual health systems in singularity, little is known about the pandemic’s effects on clinics across multiple institutions. Herein we analyzed the impact of the COVID-19 pandemic on telegenetics transition, access and efficacy from a broader perspective. A survey was administered to genetic counselors (GCs) through the National Society of Genetic Counselors listserv. The study found that the majority of GCs (81.6%) implemented telegenetics during the pandemic regardless of specialty (p > 0.05). Among those that implemented telegenetics, 58.7% indicated a decrease in patient volumes, as compared to a reported 90.5% decrease by those practices that did not utilize telegenetics. Similarly, 44.2% of GCs that implemented telegenetics, observed a decrease in genetic testing compared to 57.2% of GCs that did not use virtual platforms. Barriers encountered to the uptake of telegenetics by patients included perceived discomfort with the platform (41.8%), lack of access to an internet enabled computer/device (41.8%), preference for in-person medical appointments (40.8%) and inability to access internet services (31.1%). Thus, while telegenetics enabled continuity of care and testing uptake, there remained challenges associated to the access of virtual platforms, supporting the idea of employing a mixed model approach to SDMs. Furthermore, data supports the need for additional training, education and advocacy on the utilization of telegenetics as well as billing and reimbursement practices to promote and sustain quality genetic counseling services.
Patient and Provider Response To A Prenatal Pre-Visit Chatbot
(2021-05-01) Urbina, Catherine; Muyalde, Chantal Marie Marie; Gudmundsson, Sabina
Chatbots are artificial intelligence programs designed to mirror human conversation via text or speech and have quickly been integrated in medicine, including genomics and genetic counseling. Much of the literature has primarily focused on participants' experiences and attitudes on the use of chatbots, with limited knowledge surrounding the perspectives and opinions of providers. Geisinger and Invitae co-developed a HIPAA-compliant prenatal pre-visit educational chatbot that provides routine patient education on genetic principles and genetic tests that are performed during the first and second trimester of pregnancy. Thirteen out of 310 patients who completed the chatbot were consented and interviewed to explore patients’ experiences. Patients were all females, with an average of at least one live birth, and an average age of 31 years. Twelve out of 13 patients who completed the phone interview reported that they were in their first trimester of pregnancy. Qualitative analysis of transcripts revealed three main themes: (a) attitudes, (b) value of information, and (c) format. In addition, an electronic survey was developed and administered to 95 Geisinger OBGYN providers to assess their attitudes and opinions about the chatbot. Sixteen providers completed the electronic survey. The majority of patients and providers expressed favorable attitudes about the chatbot, recognizing it as an easy, quick, and user-friendly method to communicate important information about genetic testing. The accessible nature of chatbots offers a pragmatic and efficient approach for patients to receive important information about their genetic health.
How Genetic Findings Associated with Autism are Used: A Study of Parents and Caregivers
(2021-05-01) Yamane, Veronica Sue; Drori, Tzofia Nechama
Guidelines from the American Academy of Pediatrics and the American College of Medical Genetics and Genomics recommend genetic testing for individuals with Autism Spectrum Disorder (ASD) as part of their medical workup. While previous studies explored parental and caregiver experiences in the pursuit of genetic testing for the affected individual, to our knowledge, there is limited research in the usefulness of genetic testing for ASD and other neurodevelopmental disorders in terms of cascade testing, reproductive decision-making, medical management and care. In our research, a survey was submitted to parents and caregivers of N = 645 participants selected from the Simons Searchlight database. Quantitative Analysis of the 337 respondents showed an increased uptake of utility and overall satisfaction after a genetic finding, despite the challenges and concerns surrounding genetic testing and the potential implications that a genetic finding for ASD and other neurodevelopmental conditions may have. Notably, respondents overwhelmingly did not regret getting genetic testing done and found an ASD genetic finding to be helpful.
Genetic Counseling Around the Globe: Prenatal Screening Practices During the First Trimester
(2021-05-01) Bauer, Anna; Adhia, Dhart; Lanning, Rachel K; Zhang, Jenny G
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 was not found to be standard of care globally with the exception of the United States. Government reimbursement was reported by providers to be a major form of reimbursement for all four types of screening tests. Patient out-of-pocket was reported to be an equally popular form of reimbursement for NIPS and respondents expressed reimbursement challenges as potential barriers for offering NIPS as standard of care. Governments were more likely to reimburse well-established tests despite the greater accuracy of NIPS. These findings lay the groundwork for a deeper exploration of the continually evolving prenatal genetic counseling field on a global scale.

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