Publications by authors named "Elizabeth M Petty"

Background: Physician burnout often stems from burnout in medical students that began during the first year of medical education. Individual factors contributing to burnout must be considered within the demands of rigorous curricula and personal ambitions. This study focused on understanding how burnout is perceived by students and the impact mentorship had on its incidence and onset.

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Introduction: The minority tax in academic medicine can be defined as the additional responsibilities placed on underrepresented in medicine (URiM) faculty, staff, and students in the name of diversity. Often this looks like participating in additional diversity committees, recruitment efforts, and mentorship activities. These extra responsibilities often are not recognized, not included in promotions, and take time from other clinical, research, and traditional scholarly responsibilities.

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Introduction: People who identify as lesbian, gay, bisexual, transgender, queer/questioning, intersex, and other sexual/gender minorities (LGBTQ+) may experience discrimination when seeking healthcare. Medical students should be trained in inclusive and affirming care for LGBTQ+ patients. This narrative literature review explores the landscape of interventions and evaluations related to LGBTQ+ health content taught in medical schools in the USA and suggests strategies for further curriculum development.

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Providing welcoming, inclusive, and culturally competent care is essential for genetic counselors (GCs) to serve the needs of all patients, including transgender and nonbinary (TGNB) individuals. Inclusive language creates welcoming healthcare spaces and improves health outcomes for TGNB individuals. Training on gender-affirming healthcare can increase knowledge, comfort, and self-efficacy working with TGNB patients.

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Visual aids have been validated as effective tools for educating patients in a variety of medical settings. However, research exploring the efficacy and potential benefit of genetic counseling visual aids is lacking. To begin to address this gap, this study assessed participant knowledge of genetic counseling concepts after viewing either visual or non-visual educational content.

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Introduction: The vascular form of Ehlers-Danlos syndromes occurs due to alterations in the gene. It has been associated with major vascular and hollow organ complications, leading to increased morbidity and mortality rates with pregnancy.

Case Presentation: We report a woman (gravida 9, para 9) diagnosed with vascular Ehlers-Danlos syndrome in her 70s after bowel rupture.

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Background: Due to the COVID-19 pandemic, many genetics clinics across the country were prompted to integrate telephone visits and videoconferencing into their practice to promote the safety of patients and clinic staff members. Our study examined providers' perspectives on the utility and effectiveness of these telehealth-based clinic visits in response to the COVID-19 pandemic in Wisconsin.

Methods: An anonymous Qualtrics survey was distributed via email in October 2020 to all members of the Wisconsin Genetic Systems Integration Hub and the Wisconsin Genetic Counselor Association.

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The population of people with physical or sensory disabilities is growing, yet they are underrepresented in the medical and other health professions. At the same time, there is a clear need to enhance didactic curricular content and clinical training experiences that explicitly address the full scope of medical needs that individuals with disabilities have. These gaps represent missed opportunities to advance the health of an important, underserved, and growing population.

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As a medical specialty, genetic counseling (GC) espouses cultural sensitivity, a patient-centered approach, and an eye for the individual, familial, and community-wide implications of genetics and genomics in medicine. Within the past decades, the field of GC has recognized and attempted to address a need for the greater diversity of providers and practice settings that will help to address health inequities across underrepresented communities (Channaoui et al., 2020).

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Non-invasive prenatal testing (NIPT), is a prenatal screening test for chromosomal aneuploidies (trisomy 21, trisomy 18, and trisomy 13). While women under 35 years of age with no other risk factors are considered low risk for pregnancies with aneuploidy, most babies with aneuploidy are born to low-risk women. Across the USA, including Wisconsin, many private insurances do not cover initial NIPT for low-risk women, creating a potential financial burden that may limit patient selection of NIPT.

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Although empathy is widely recognized as an important trait for healthcare professionals, little research has examined empathy attributes in genetic counselors. Decreases in empathy levels have been recognized in other healthcare professionals over the span of their professional education program. This research sought to characterize empathy levels in first- and second-year genetic counseling students and recent (2017) graduates, and to determine whether there are differences in empathy levels displayed by genetic counseling students at different points in their training.

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Genetic counseling is a rapidly growing field with increasingly diverse practice settings. The growth of genomics and precision medicine across all medical specialties has been accompanied by corresponding growth in the amount of information available to genetic counselors. However, few published studies on genetic counseling information needs and seeking behaviors exist, and none look at information use across the profession.

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Prenatal genetic screening should be an informed, autonomous patient choice. Extrinsic factors which influence patient decision-making threaten the ethical basis of prenatal genetic screening. Prior research in the area of medical decision-making has identified that labeling may have unanticipated effects on patient perceptions and decision-making processes.

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There are currently three generations of individuals that make up the genetic counselor workforce: Baby-Boomers, Generation X, and Millennials. These generations are presumed to be shaped by the historical, cultural, and social events that occurred during critical developmental periods. Understanding the underlying perceptions and viewpoints of genetic counselors regarding the multigenerational workforce may facilitate successful working relationships as well as recognition of the perceived unique characteristics that each generation offers.

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The impact of practicing as a prenatal genetic counselor while pregnant is unclear given the limited amount of published literature on this issue. To address this gap in knowledge, a total of 215 current and past prenatal genetic counselors provided insights regarding this personal yet professional juncture through completion of an online survey that allowed for both close-ended and open-ended responses. While participants agreed that experiencing pregnancy affected their perspectives and counseling in several ways, this paper focuses on one particular finding-that of the changes in their own obstetric care perceived by genetic counselors while working within the prenatal setting and being pregnant themselves.

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The aim of this pilot qualitative study was to describe the experiences and beliefs of medical interpreters when working with genetic counselors and other genetic providers caring for Hmong patients who are not native English speakers. Specific goals were to identify interpreters' thoughts and perceptions on (a) their roles during sessions, (b) unique challenges in a genetics session, (c) knowledge genetics providers need when working with Hmong patients and interpreters, and (d) supports and training needed to effectively interpret in a genetics setting. Hmong medical interpreters from Wisconsin and Minnesota were invited by email to participate in the study.

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Genetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor's own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors' and genetic counseling students' perspectives and experiences providing genetic counseling to relatives.

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The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men.

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The Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi-structured interview was designed to address genetic counselors' experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview.

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Physicians must possess knowledge and skills to address the gaps facing the US health care system. Educators advocate for reform in undergraduate medical education (UME) to align competencies with the Triple Aim. In 2014, five medical schools and one state university began collaborating on these curricular gaps.

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The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary.

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Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation. Somatic AXIN2 mutations predicted to generate truncated AXIN2 (trAXIN2) proteins have been reported in some CRCs. Our studies of cells from an AXIN2 1989G>A mutation carrier showed that the mutant transcripts are not significantly susceptible to nonsense-mediated decay and, thus, could encode a trAXIN2 protein.

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