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Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre‐test counseling for hereditary cancer risk J. Genet. Couns. (IF 1.9) Pub Date : 2024-03-14 Alexandra Capasso, Bita Nehoray, Nicholas Gorman, Emily A. Quinn, Daiana Bucio, Kathleen R. Blazer
As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity
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Further defining the roles and impact of genetic counselors in the biotechnology and pharmaceutical industry J. Genet. Couns. (IF 1.9) Pub Date : 2024-03-13 Emily Maxwell, Rebekah Moore, Kristin Niendorf, Tessa Field
As personalized medicine has gained traction, drug development models in the biotechnology and pharmaceutical industry (BPI) have increasingly sought to address medical conditions with a genetic component, creating an opportunity for genetic counselors (GCs) to fill new roles and utilize their unique training to contribute to drug development. Despite the potential for GCs in BPI, literature around
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Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis J. Genet. Couns. (IF 1.9) Pub Date : 2024-03-13 Connolly G. Steigerwald, Carina Bertolini, Martin McElhiney, Amanda L. Bergner, Matthew B. Harms, Elizabeth A. Harrington
As clinical genetic testing in the amyotrophic lateral sclerosis (ALS) diagnostic setting increases, the identification of at‐risk family members has also expanded. No practice guidelines specifically for predictive genetic testing exist, and few studies about the psychological impacts of testing in this subgroup have occurred, limiting the ability to tailor recommendations and counseling in this community
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Experiences of young people growing up in a family with Huntington's disease: A meta‐ethnography of qualitative research J. Genet. Couns. (IF 1.9) Pub Date : 2024-03-12 Hollie Cooper, Jane Simpson, Maria Dale, Fiona J. R. Eccles
Huntington's disease is a genetic neurodegenerative condition with wide physical and psychological impacts. Children of a parent with the condition have a 50% chance of carrying the gene expansion and developing the condition themselves. This systematic review and meta‐ethnography presents a synthesis of the qualitative research on the experiences of young people growing up in a family with Huntington's
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Termination counseling among US perinatal genetic counselors in the setting of second trimester fetal anomalies J. Genet. Couns. (IF 1.9) Pub Date : 2024-03-01 Holly A. Rankin, Kristin Voegtline, Sarah Olson, Carolyn Sufrin
Many pregnant people learn of fetal anomalies in the second trimester and subsequently present to prenatal genetic counselors (PGCs) for counseling, including but not limited to a nuanced discussion about whether to continue or terminate pregnancy. In those who choose to terminate, the decision between dilation and evacuation (D&E) or induction is often one of patient preference and as such, is heavily
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The majority of parents of children undergoing genetic testing report preference for earlier genetic counseling appointments J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-27 Cami Cochrane, Leah Wetherill, Paula Delk, Trisha Neidlinger
In the Indiana University Health (IUH) Medical Genetics clinic, certified genetic counselors disclose genetic test results to patients by telephone. The wait‐time between a result call‐out and a follow‐up appointment can vary from weeks to months depending on the medical geneticist's availability. Understanding the experiences that families face during these waiting periods can inform the field regarding
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Status of abortion curriculum in genetic counseling: Survey of graduate programs and recent graduates in the United States J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-27 Gina Sanchez, S. Shahrukh Hashmi, Erica Bednar, Sarah Horvath, Bhavik Kumar, Katelynn Sagaser, Claire N. Singletary, Aarti Ramdaney
Genetic counselors (GCs) are trained to help individuals navigate the medical and psychological implications of genetic test results, familial conditions, and ultrasound anomalies. Therefore, familiarity with reproductive options, including abortion, is vital. However, previous studies have found gaps in GCs' knowledge regarding abortion care and there are currently no recommendations regarding abortion
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What next for “counseling” in genetic counseling training: A co-production workshop exploring how CBT and ACT approaches can contribute to the genetic counseling toolkit J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-20 Rachel Davies, Rachel Price Tate, Nicola V. Taverner
Counseling techniques are an important part of genetic counseling, and teaching of the humanistic person-centered philosophy has been central to genetic counselor (GC) training. However, other psychotherapeutic approaches, especially cognitive approaches, may also be beneficial for the GC to have in their toolkit. This paper reports on a co-production workshop with newly qualified GCs where the potential
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Processing the process: Reflections on genetic counselor-led student supervision groups and practical tips for future facilitators J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-20 Michelle E. Florido, Jessica L. Giordano
Genetic counseling graduate students face growth and challenges across a variety of axes both personally and professionally throughout their training. The formation of leader-led supervision groups for second-year genetic counseling students has created a safe space for students to give and receive feedback, process their positionality in complex clinical scenarios and the medical system at large,
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Compassion and equity-focused clinical genomics training for health professional learners J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-16 Taylor J. Berninger, Ramya M. Rajagopalan, Cinnamon S. Bloss
There remains an urgent need for expanded genomics training in undergraduate medical education, especially as genetic and genomic assessments become increasingly important in primary care and routine clinical practice across specialties. Physician trainees continue to report feeling poorly prepared to provide effective consultation or interpretation of genomic test results. Here we report on the development
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Exploring the impact of microaggressions on the genetic counseling student–supervisor relationship: A qualitative study J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-15 Kyra Ramsey, Nikkola Carmichael, Melissa Gutierrez-Kapheim, Mike Darren Dell-Suguitan, Annie K. Bao, Christin Hoell
Genetic counseling students with minoritized identities have reported experiencing microaggressions throughout graduate training, including from fieldwork supervisors. However, the impacts of these fieldwork experiences have not been thoroughly investigated. As supervision is known to be integral to genetic counseling students' skill development and success, the purpose of this qualitative study was
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A qualitative focus group analysis: Increasing fieldwork capacity in genetic counseling training programs J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-15 Rebecca Jirik, Krista Redlinger-Grosse, Claire Davis, Rachel Nusbaum, Catherine Reiser, Taylor Berninger
Genetic counselors are an integral part of the healthcare system; however, the number of genetic counselors in many parts of the United States is limited, impacting access to comprehensive healthcare for all patients. One solution to addressing this deficit includes modifying genetic counseling training programs to increase student enrollment. Fieldwork capacity, driven by a limited number of rotation
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Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessment J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-14 Andrea Hanson-Kahn, Courtney Rowe-Teeter, Carly Siskind, Natalie Dykzeul
We introduce Entrustable Professional Activities (EPAs) as a potential framework for clinical training and assessment in genetic counseling. We discuss advantages of this approach, review how EPAs complement Practice-Based Competencies (PBCs), describe our process of generating proposed “core” EPAs, provide examples of specialty-specific EPAs, discuss the concept of entrustment in clinical training
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Health-related quality of life and fear of progression in individuals with Li-Fraumeni syndrome J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-13 Senta Kiermeier, Sarah Schott, Juliane Nees, Christina Dutzmann, Farina Strüwe, Christian P. Kratz, Christina Sauer, Anna Fleischer, Myriam Keymling, Imad Maatouk
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome associated with a highly elevated lifetime cancer risk. This and the recommended intense surveillance program represent a large psychological burden on families. In order to develop targeted psychosocial interventions, we conducted a needs assessment. Adults (≥18 years) with LFS were included via regular hospital
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Implementing mainstream genetic counseling within the area-wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC): Satisfaction of primary care providers with the provided state-of-the-art training by the Cologne Center J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-13 Natalie Herold, Kathrin Bredow, Corinna Ernst, Anja Tüchler, Britta Blümcke, Anke Waha, Ebru Keser, Jan Hauke, Barbara Wappenschmidt, Eric Hahnen, Rita Katharina Schmutzler, Kerstin Rhiem
The German Cancer Society (Deutsche Krebsgesellschaft DKG) has published a position paper to address the challenges of cancer patient care in the era of genomic medicine. The German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC) has implemented this recommendation in its care concept for families at risk. Core elements are the outcome-oriented evaluation of structured and standardized clinical
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Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-13 Megan T. Cho, Claire Davis, Chenery Lowe, Maureen Flynn, Leila Jamal, Komal Bajaj, Carrie Atzinger, Lori H. Erby
Educational use of clinical simulation is a way for students to immerse themselves within a realistic yet safe and structured environment as they practice clinical skills. It is widely used in healthcare training and evaluation, and there are best practices for design, implementation, debriefing, and assessment. An increasing number of genetic counseling graduate programs use simulation in various
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Inconvenient sampling: Community-engaged and restorative justice approaches to genetic counseling student research J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-13 Kimberly Zayhowski, Emily Glanton, Ian M. MacFarlane, Rebekah Pratt, Crystal Y. Lumpkins, Heather Zierhut
Genetic counseling research requires a comprehensive approach since it frequently serves as the foundation for clinical care practice. Genetic counseling students play a pivotal role in advancing the profession, as they contribute a significant proportion of the research conducted within the genetic counseling community. However, a prevailing trend of convenience sampling of genetic counselors has
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Clinical Bootcamp: Moving toward competency outside of the clinic J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-12 R. Beth Dugan, Beverly M. Yashar, Monica Marvin
The COVID-19 Pandemic placed many challenges on the healthcare system. As healthcare providers were stretched thin and clinics were closed to any non-essential personnel, including learners, educational programs across the country scrambled to meet the needs of their students. In response to restrictions placed on traditional in-person clinical training, the University of Michigan Genetic Counseling
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Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything” J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-11 Sarah Roth, Jill Owczarzak, Kellan Baker, Hannah Davidson, Leila Jamal
Transgender and gender diverse (TGD) individuals are a significant yet underrepresented population within genetic counseling research and broader LGBTQI+ health studies. This underrepresentation perpetuates a cycle of exclusion from the production of medical knowledge, impacting the quality and equity of care received by TGD individuals. This issue is particularly poignant in cancer genetic counseling
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What next for “counseling” in genetic counseling training: A reflection on how CBT and ACT approaches can contribute to the genetic counseling toolkit J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-11 Rachel Davies, Rachel Price Tate, Nicola V. Taverner
Counseling techniques are an important component of genetic counseling training and are focused on the person-centered counseling philosophy. While this has a long tradition within the profession and underpins the empowerment goal, it should not limit consideration of the potential benefits of education on other psychotherapeutic approaches such as the cognitive philosophy. The goal of empowerment
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Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervision J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-10 Kate P. Shane-Carson, Loan Stone, Kaitlin Justice, Shannah Mwanda, Amy Stagg, Jane Pilditch, Sally Hiner, Jessica Scott Schwoerer, Susan A. Berry, Mathew J. Edick
There are limited studies regarding the attainment of the Accreditation Council for Genetic Counseling Practice-Based Competencies by genetic counseling students who complete clinical rotations in an in-person setting versus in a remote setting that incudes telephone and/or video patient encounters. This study explored the perceptions of 17 patient-facing genetic counselors who had served as supervisors
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Use of gender-inclusive language in genetic counseling to optimize patient care J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-09 Heather Motiff, Kristina Garcia, Qianqian Zhao, Elizabeth M. Petty
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
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Graduate training, credentialing, and continuing education to prepare genetic counselors for laboratory roles—Results of a national survey J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-09 Lisa Schwartz, Mia S. Mackall, Aishwarya Arjunan, McKinsey Goodenberger, Rachel Mills, Chloe Ham, Sarah Witherington
Opportunities for genetic counselors to work in a variety of practice settings have greatly expanded, particularly in the laboratory. This study aimed to assess attitudes of genetic counselors working both within and outside of the laboratory setting regarding (1) the re-wording and/or expansion of key measures of genetic counselors' competency, including practice-based competencies (PBCs) and board
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BIPOC students' paths to genetic counseling: Results from a longitudinal qualitative study J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-07 Nikkola Carmichael, Kimberly Zayhowski, Joselyn Saenz Diaz
Despite diversity initiatives, the genetic counseling profession continues to exhibit limited racial and ethnic diversity, with relatively stagnant representation of Black, Indigenous, and People of Color (BIPOC) individuals. Prior research has found that BIPOC high school and college students are less likely to be aware of genetic counseling and learn about it later than their white peers. Financial
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Exploring genetic counselors' experiences with non-paternity in clinical settings J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-07 Emma Cunningham, Stephen Hays, Tasha Wainstein, Heather Zierhut, Alice Virani, Rebecca Tryon
Non-paternity (NP) is a challenging dilemma faced by genetics providers and there is little consensus on whether this finding should be disclosed. Discussions in the literature are highly theoretical, with limited research regarding how disclosure decisions are enacted in practice. We explored genetic counselors' (GCs) clinical experiences with NP to understand if, how, and why this finding is communicated
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Embedding simulation in genetic counselor education from the first week of training: Learning outcomes, standardized clients, and students' satisfaction J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-06 Chris Jacobs, Alison McEwen
Health professional educators routinely utilize simulation to prepare students for practice. However, there is little evidence to show whether simulation enhances learning for genetic counseling students. This study aimed to (i) develop simulation learning outcomes and standardized clients for genetic counselor student education and (ii) evaluate students' experiences of learning from face-to-face
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From intention to action: Assessing need and creating a JEDI toolkit for individuals teaching cancer genetics curriculum J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-04 Jamie Paysour, Susan Shehayeb, Kelsie McVayre, Shreshtha Garg, Fatima Amir, Anna Vercruyssen, Alina Sitaula, Meredith Gerhart, Samantha E. Greenberg
The effects of systemic racism persist in cancer care and contribute to disparities. Recent publications have shown that injustices and biases continue to affect the field of genetic counseling in the form of microaggressions, barriers to entry, and disparate patient care. Toolkits are one method that can be used to incorporate anti-racist practices to address this need. We sought to identify the current
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Measuring the therapeutic bond in genetic counseling: Testing measurement error in the bond subscale of the Working Alliance Inventory J. Genet. Couns. (IF 1.9) Pub Date : 2024-02-02 Elizabeth Broadbridge, Debra L. Roter, Susan Persky, Lori H. Erby
The therapeutic relationship is a key component of successful genetic counseling. In psychotherapy, a strong therapeutic relationship can improve patient health outcomes and a poor relationship can worsen psychological functioning. Investigation of the therapeutic relationship in genetic counseling has shown evidence for a similar pattern. Reliable measurement of the therapeutic relationship is necessary
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The State of National Institute of Health Awards for funding genetic counseling research, resources, and training over the past decade J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-24 Heather Zierhut, Samantha Betterman, Megan Kocher, Hiermiela Tsegai, Rachel Mills
Research related to the practice of genetic counseling has historically been accomplished through student projects, small private grants, or as a part of a larger research study. Yet, recent initiatives supported by the National Society of Genetic Counselors and the National Human Genome Research Institute have recognized and promoted the need for additional genetic counseling research funding and
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Picture this: Evaluating the efficacy of genetic counseling visual aids J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-22 Viviane Pederson, Jennifer Rietzler, Abigail Freeman, Elizabeth M. Petty
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. Participants were
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Exploration of support for Black, Indigenous, and people of color students in genetic counseling programs J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-22 Dhriti Jagannathan, Ian M. MacFarlane, Heather Zierhut
Students in higher education who identify as Black, Indigenous, and people of color (BIPOC) experience racism, discrimination, and microaggressions through tokenization, hypervisibility, invisibility, and marginalization. The experiences of BIPOC genetic counseling students with curriculum, clinical training, and sense of belonging also differ. Therefore, there is a large need for understanding how
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Genetic counseling for congenital disorders of glycosylation (CDG) J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-19 Tara Weixel, Lynne Wolfe, Ellen F. Macnamara
Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network. With over 160 different CDG types currently identified and a vast range of severity and presentations existing within and across
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Issues, challenges, and future perspectives of genetic counseling in Republic of Korea: Perspectives of laboratory physicians based on a 2022 survey J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-15 Soo Hyun Seo, Namhee Kim, Jongha Yoo, Do-Hoon Kim, Jieun Kim, Jungwon Huh, Sun-Young Kong, Eul Joo Seo
The field of genetic counseling (GC) in the Republic of Korea has evolved from a single medical doctor's clinic to a multidisciplinary service with medical geneticists and non-medical professionals working as a team. Here, we assessed the current status of GC in the Republic of Korea based on professional surveys from the perspective of laboratory physicians. An electronic survey was designed and conducted
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Families' experiences accessing care after genomic sequencing in the pediatric cancer context: “It's just been a big juggle” J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-15 Blake Vuocolo, Amanda M. Gutierrez, Jill O. Robinson, Alva M. Recinos, Lauren R. Desrosiers, Mary A. Majumder, Juan Carlos Bernini, Jonathan Gill, Timothy Griffin, Gail E. Tomlinson, Kelly Vallance, Amy L. McGuire, D. Williams Parsons, Sharon E. Plon, Sarah Scollon
Access to genomic sequencing (GS) and resulting recommendations have not been well described in pediatric oncology. GS results may provide a cancer predisposition syndrome (CPS) diagnosis that warrants screening and specialist visits beyond cancer treatment, including testing or surveillance for family members. The Texas KidsCanSeq (KCS) Study evaluated implementation of GS in a diverse pediatric oncology
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Integrating nutrition and genetic counseling: A case study approach to interprofessional learning J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-15 Drew M. Cratsenberg, Mariah K. Jackson, Corrine K. Hanson, Holly H. Zimmerman
Interprofessional collaboration is an increasingly important skillset for practicing healthcare professionals including genetic counselors and registered dietitian nutritionists. A multi-part interactive case study activity was created to develop interprofessional skills for graduate students within genetic counseling and medical nutrition training programs at an academic medical center. Feedback from
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Assessing management practices for variants of uncertain significance among genetic counselors in pediatrics J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-12 Chloe Cheung, Sara M. Berger, Meredith Ross, Tamar Kramer, Yuhuan Li, Carli Andrews, Katia R. Dergham, Elana Spitz, Michelle E. Florido, Priyanka Ahimaz
Increased utilization of genomic sequencing in pediatric medicine has increased the detection of variants of uncertain significance (VUS). Periodic VUS reinterpretation can clarify clinical significance and increase diagnostic yield, highlighting the importance of systematic VUS tracking and reinterpretation. There are currently no standardized guidelines or established best practices for VUS management
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The experiences and support needs of applicants who go unmatched to genetic counseling graduate programs: An exploratory qualitative study J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-12 Haley Leishman, Kathleen B. Swenson, Kimberly Zayhowski
As interest in the profession of genetic counseling continues to grow, the number of applications received by accredited genetic counseling graduate programs far outweighs the number of available training positions. In the 2023 application cycle, 46% of applicants who participated in the genetic counseling match went unmatched. There is limited research surrounding the experiences of unmatched candidates
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Exploring Canadian genetic counselors' perspectives and experiences with discussing medical assistance in dying (MAiD) J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-11 Rebecca C. Candlish, Susan Creighton, Daryl Pullman, Alison M. Elliott
Medical assistance in dying (MAiD) is the Canadian equivalent of Physician aid-in-dying (PAD) in the United States. Through changes to the eligibility criteria for MAiD in 2021, Canada now has one of the most permissive assisted dying regimens in the world. This study describes Canadian genetic counselors' experiences, knowledge, and preparedness to discuss MAiD with their patients. Survey responses
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Exploring the occurrence of microaggressions in the genetic counseling student–supervisor relationship: A mixed-methods study J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-12 Kyra Ramsey, Nikkola Carmichael, Melissa Gutierrez-Kapheim, Mike Darren Dell-Suguitan, Laura Lopez Santibanez Jacome, Annie K. Bao, Christin Hoell
While research has shown that genetic counseling students with minoritized racial or ethnic identities face microaggressions throughout graduate training, quantitative data regarding the frequency of these experiences have not been reported. The purpose of this mixed-methods study was to investigate the frequency and types of microaggressions experienced by graduates of accredited genetic counseling
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Transgender and gender diverse individuals' perspectives on discussions of fetal sex chromosomes in obstetrics care J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-10 Dana Tyrie, Alejandra Oliva, Hannah Llorin, Kimberly Zayhowski
In the past decade, prenatal cell-free DNA screening (cfDNA) has become ubiquitous as a screening tool for fetal aneuploidy and sex chromosomes. Healthcare provider (HCP) discussions and public perceptions of sex and gender uniquely impact transgender and gender diverse (TGD) individuals, and existing cfDNA guidelines lack recommendations regarding how to discuss sex and gender prenatally. The aim
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Systematic review of the uptake and outcomes from returning secondary findings to adult participants in research genomic testing J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-10 Lucas A. Mitchell, Karishma Jivani, Mary-Anne Young, Chris Jacobs, Amanda M. Willis
The increasing use of genomic sequencing in research means secondary findings (SF) is more frequently detected and becoming a more pressing issue for researchers. This is reflected by the recent publication of multiple guidelines on this issue, calling for researchers to have a plan for managing SF prior to commencing their research. A deeper understanding of participants' experiences and outcomes
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Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-10 Carly Eichten, Ashley Kuhl, Mei Baker, Jennifer M. Kwon, Christine M. Seroogy, Katie B. Williams
Spinal muscular atrophy (SMA) has been reported in both Amish and Mennonite (Plain) communities, and a higher incidence has been observed in certain Mennonite communities compared to the general population. There are several therapies for SMA, but all are most effective in pre-symptomatic newborns. To identify couples from the Wisconsin Plain community who are most likely to have a child with SMA,
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Development of a flipped learning course to deliver and scale molecular variant evaluation education: A quality improvement initiative J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-10 Jessica R. Balcom, Marissa S. Ellingson, Carrie A. Bowler, Darcy M. Richardson, Teresa Kruisselbrink, Brittany C. Thomas
Over the past several decades, molecular genetic testing volumes have grown and testing has expanded from single-gene assays to multigene panels, exome sequencing, and genome sequencing. The number of molecular genetic variants that require manual interpretation has grown simultaneously, resulting in an increased demand for education on molecular variant evaluation (MVE). To meet this growing need
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Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-10 Sara L. Reichert, Elizabeth Dechene, Lauren Lulis, Kathleen Valverde, Laura Conway, Matthew Dulik
The need for education focusing on genomic technologies and variant interpretation for genetic counseling trainees has prompted genetic counseling training programs to alter their curricula to incorporate this content. Given students' diverse experiences prior to matriculation into genetic counseling training programs, students' familiarity with these topics may vary. Following receipt of feedback
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Release of reclassified VUS results of now deceased patients to family members: Practices and opinions J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-08 Seth Lascurain, Darcy Thull, Andrea Durst, Todd Bear, Phuong L. Mai
Variants of uncertain significance (VUS) are commonly identified in genetic testing. The rate at which a VUS is reclassified depends on multiple factors. However, as the amount of time it might take for a VUS to be reclassified varies, some patients with a VUS genetic testing result might have passed away before the VUS is reclassified. A VUS that is reclassified after the patient's death has clinical
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Telesupervision in genetic counseling education during COVID-19 and beyond J. Genet. Couns. (IF 1.9) Pub Date : 2024-01-07 Lisa Jay Kessler, Michaela Mundt, Yael Freiberg, Lynne Taylor, Kathleen D. Valverde
The COVID-19 pandemic led healthcare organizations to pivot to telemedicine, precipitating the shift to telesupervision, defined as supervision over video-conferencing platforms and telephone, for genetic counseling students. This study aimed to (1) characterize the impact of the COVID-19 pandemic on genetic counseling supervision, (2) ascertain genetic counseling supervisor experiences with telesupervision
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Attitudes of parents of children with ADHD towards genetic testing: Data from a Turkish sample J. Genet. Couns. (IF 1.9) Pub Date : 2023-12-21 Utku Beyazit, Hande Şirin, Mehmet Erdem Uzun, Alev Kuru, Yeşim Yurdakul, Aynur Bütün Ayhan, Serkan Yilmaz
This study aimed to examine the opinions of parents with children diagnosed with attention deficit/hyperactivity disorder about genetic tests. A total of 540 parents living in Turkey participated in the study face-to-face and online. A questionnaire form prepared by the researchers was used as the data collection instrument. Face-to-face data were collected in different institutions in the cities of
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Discussions of personal identity in genetic counseling supervision J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-27 Katherine Peplow, Hua He, Bryana Rivers, Katie Wusik, Geoffrey Yager, Carrie Atzinger
Fieldwork supervision is integral to genetic counseling students' training and has the potential to impact how included students feel in the genetic counseling field. For example, in related counseling fields, when supervisees and supervisors discuss their personal similarities or differences in ethnicity, supervisees report a stronger supervisory working alliance (SWA) (Journal of Multicultural Counseling
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Massive open online courses (MOOCs) in genomic variant interpretation: An innovative education strategy for the growing genetic counselor workforce J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-27 Beth Coad, Katherine Joekes, Alicja Rudnicka, Amy Frost, Katrina Tatton-Brown, Katie Snape
The growth in genomic testing in healthcare requires a highly trained specialist workforce to ensure evidence based clinical germline variant interpretation. Genetic counselors form a core part of the clinical genomics multidisciplinary team (MDT) and represent a growing workforce participating in variant interpretation from data analysis to the patient consultation. Standardized, high-quality variant
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Exploring the training needs of inherited cardiac conditions (ICC) nurses: Elucidating role boundaries and competencies for practice in the genomics era J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-27 Amy Braddel, Melanie Watson
Nurses represent the largest professional group within the National Health Service (NHS) and are therefore central to the successful integration of mainstreaming genomics into routine healthcare. Inherited cardiac conditions (ICC) nurse roles have been developed in recent years to streamline the care for patients and families affected by an ICC. Like many nurse specialists, ICC nurses' prior exposure
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Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-20 Lauren Eckstein, Benjamin M. Helm, Rebecca Baud, Clair A. Francomano, Colin Halverson
The Ehlers-Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical
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Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-16 Adeline Perrot, Angus Clarke, Carine Vassy, Ruth Horn
Non-invasive prenatal testing (NIPT) is provided in the private and public sectors worldwide as a first- or second-tier test. In England and France, NIPT is fully funded and offered as a contingent strategy with different probability cut-offs (1:150 and 1:1000). These different approaches to define the target population for NIPT have implications for how women experience their antenatal care. The paper
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Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-17 Tara R. Hart, Sohnee Ahmed, Robyn Byrne, Laura Anne Goodell Sulmonte, Leah M. Williams, Kirsty McWalter
As the genetic counseling workforce experiences an increase in genetic counselors (GCs) in non-direct patient care roles, it is essential that genetic counseling students are trained in these settings. The Accreditation Council for Genetic Counseling (ACGC) standards regarding laboratory exposure have evolved over time, but laboratory fieldwork experience continues to remain a suggestion for a diversified
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Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-17 Priyanka Ahimaz, Meredith Ross, Jennah Foltz, Monisha Sebastin, Ketki Naik, Tamar Kramer, Kelsie Bogyo, Michelle Primiano
The augmented use of genomic testing across different medical subspecialties has led to increased involvement of genetic counselors (GCs) in specialized areas of medicine. However, the lack of educational infrastructure required for changing scholastic needs of GCs entering new subspecialties lends to the burden of self-directed learning and inconsistent knowledge. We conducted a cross-sectional study
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Decision-making processes behind seeking regular cardiac checkups for individuals with Marfan syndrome: A grounded theory study J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-15 Sayoko Haruyama, Masako Torishima, Hidenori Kawasaki, Takahito Wada, Shinji Kosugi
Patients with Marfan syndrome (MFS) present with various symptoms, such as aortic aneurysm/dissection, tall stature, and lens deviation. Among them, acute aortic dissection is a complication that leads to sudden death. Some individuals with MFS are reluctant to see a cardiologist and discontinue regular checkups until they develop life-threatening complications. We conducted a grounded theory study
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Research participants' perspectives regarding the feedback of secondary findings–A cohort from the DDD-Africa study, South Africa J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-15 Barry Shingwenyana, Bianca Rossouw, Jamey Thom, Nadja Louw, Amanda Krause, Zané Lombard
Genomic researchers face an ethical dilemma regarding feedback of individual results generated from genomic studies. In the African setting, genomic research is still not widely implemented and, coupled with this, the limited African-specific guidelines on how to feedback on individual research findings. A qualitative study was performed to assess participants' expectations and preferences regarding
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A cross-professional competency framework for communicating genomic results J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-15 Amanda Pichini, Kate Tatton-Brown, Ellen Thomas, Michelle Bishop
To ensure genomic medicine is delivered safely and effectively, it is crucial that healthcare professionals are able to understand and communicate genomic results. This Education Innovation describes a nationally agreed, cross-professional competency framework outlining the knowledge, skills and behaviors required to communicate genomic results. Using principles of the nominal group technique, consensus
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“Learning with each other, about each other”: Interdisciplinary learning among genetic counseling students and clinical health psychology residents J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-15 Jessica N. Hartley, Maxine Holmqvist
Interprofessional collaborative healthcare is known to improve provider satisfaction and retention, as well as patient safety and quality of care. The specific knowledge, skills, and attitudes required to work in these environments are best taught interprofessionally. Despite having considerable overlap in training, orientation, and populations served, it is rare for trainees from genetic counseling
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Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan J. Genet. Couns. (IF 1.9) Pub Date : 2023-11-13 Maheen Arshad, Angela Trepanier, S. Shahrukh Hashmi, Rizwan Naeem, Saqib Mehmood, Myla Ashfaq
Pakistan has a high rate of genetic disorders and neonatal mortality concurrent with noted lack of genetic and geneticists. To meet the needs of the patient population, the responsibility of providing clinical genetic services falls on general and specialty physicians. However, their education regarding these essential services is not standardized in medical school curricula nor has it ever been evaluated