Abstract Lesbian, gay, bisexual, transgender, queer/questioning, and other sexual and gender minority (LGBTQ) students in healthcare professional programs face discrimination in their training, leading them to hide their identities and hindering their ability to form as meaningful connections with their classmates and faculty as non‐LGBTQ students. To date, no studies have been published characterizing the LGBTQ student experience in genetic counseling programs. However, other historically oppressed groups such as Black, Indigenous, and people of color (BIPOC) genetic counseling students report feelings of isolation and negative impacts on mental health due to their racial or ethnic identity. This study explored how LGBTQ identity impacted relationships between genetic counseling students and their classmates and faculty in graduate school. In this qualitative study using constructivist grounded theory, 13 LGBTQ students and recent graduates of Canadian and American accredited genetic counseling programs were interviewed via videoconferencing. Participants reported determinants in self‐disclosing their LGBTQ identity to their classmates and faculty and described ways in which their LGBTQ identity impacted relationships with individuals in their training programs. In particular, many described an overall heteronormative training environment, a hesitation to disclose their identity to faculty due to the professional nature of the relationship, and a sense of isolation. Participants also described the ways in which intersecting minoritized identities impacted their experiences as an LGBTQ student. This research contributes to the minimal literature about LGBTQ genetic counseling student experiences and has implications for addressing cisheteronormative curricula and attitudes in genetic counseling programs.
Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited knowledge of the perspectives of providers. The aim of this study was to explore how professionals in genomics perceive uncertainties involved in genomic sequencing, and if or how this impacts their approach to pretest counseling. We performed 20 semi-structured interviews with genetic counselors in the United States and Canada who provide pretest genetic counseling for genomic sequencing. Interviews explored participating genetic counselors' views of uncertainty regarding genomic sequencing, how they classify it, how it manifests, and how they manage it during pretest counseling. Thematic analysis showed that genetic counselors acknowledge concepts of uncertainty that map to existing frameworks of uncertainty for genomic sequencing. Genetic counselors also perceived incongruencies between patients' and providers' expectations of genomic sequencing, which prompted them to modify patients' perceptions of uncertainty related to genomic sequencing. All genetic counselors agreed that guidance and strategies for genomic sequencing pretest counseling would be helpful, particularly for novice genetic counselors and non-genetics providers. These findings highlight the need and potential for conceptual models of uncertainty and uncertainty management strategies to facilitate patient-centered pretest counseling for genomic sequencing.
Abstract “Imposter syndrome” is a term used to describe feelings of pervasive self‐doubt despite evident success. It is the lay version of “imposter phenomenon,” a concept that was proposed as an explanation for why highly accomplished (mostly white and middle‐ to upper‐class) women persisted in believing that their success was due to luck or a mistake despite evidence to the contrary. However, the experience of imposter syndrome in genetic counseling, particularly among Black, Indigenous, and People of Color (BIPOC) individuals, remains underexplored. This study investigates the etiologies and impacts of imposter syndrome among BIPOC genetic counseling students with the aim of elucidating how the term is used and identifying potential interventions. We conducted semi‐structured interviews with 26 participants who were part of a longitudinal constructivist grounded theory study investigating the training experiences of BIPOC genetic counseling students. Using reflexive thematic analysis, we constructed themes related to self‐doubt, classroom and clinical performance, identity, and disclosing imposter syndrome feelings to others. Participants described imposter syndrome as arising from concerns that they were unprepared for their training program, less qualified than their peers, or admitted by accident or due to their BIPOC identity. Some participants attributed imposter syndrome to being a BIPOC student in a predominantly white profession. Comparisons to classmates and practicing genetic counselors, academic struggles, and anxiety about clinical rotations exacerbated imposter syndrome. Our findings underscore the multifaceted nature of imposter syndrome among BIPOC genetic counseling students and the need for a multipronged approach to mitigate its harmful effects. For BIPOC students, training programs should recognize that imposter syndrome is intertwined with racial inequities within the field that position them as imposters. We propose that supportive relationships with classmates, BIPOC mentors, and other BIPOC students can reduce imposter syndrome and enhance student well‐being and academic success.
It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender-related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.
Abstract Many transgender individuals want to have children and are pursuing reproductive care. Limited research has described the experiences of transgender individuals during pregnancy, and no known studies have examined reproductive genetic counseling sessions with this patient population. To understand what topics and considerations are explored within this sector of reproductive care, prenatal and preconception genetic counselors that have seen a transgender patient and/or transgender partner of a patient were recruited through an email blast to members of the National Society of Genetic Counselors. Nine genetic counselors completed phone interviews. Content analysis was used to identify, quantify, and examine the concepts within the transcripts. Six major themes emerged: (1) Trans individuals were referred for common genetic counseling indications, (2) genetic counselors were driven to think of more inclusive language, (3) genetic counselors considered ways to make written materials more inclusive, (4) trans individuals expressed discomforts in the prenatal/preconception setting, (5) genetic counselors observed challenges with the care team, and (6) genetic counselors felt underprepared. This study identifies areas within reproductive spaces of genetic counseling that could be more inclusive, particularly relating to commonly used gendered language and written materials, and provides training recommendations for genetic counselors. Additionally, we outline the reported areas of discrimination for these patients and partners, and discuss ways that genetic counselors can be advocates for respectful and equitable care within their clinics.
Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures. This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy
Abstract Germline genetic testing has been increasingly conducted for treatment implications in patients with prostate cancer due to the expansion of testing eligibility. Understanding patients' comprehension of genetic results is crucial for establishing effective result disclosure practices. This importance has grown due to the increasing prevalence of negative genetic results being conveyed via electronic communication and by providers without a genetics specialization. This study explores patients with prostate cancer's perceptions of genetic results communication. We analyzed 24 qualitative, semi‐structured interviews with patients with prostate cancer at an urban safety‐net hospital who had genetic results documented in their medical records. Interview questions focused on patient experiences with genetic referrals, genetic counseling, and genetic result disclosure. Audio recordings were professionally transcribed and analyzed by the study team utilizing an inductive thematic approach to generate themes from recurring codes. Of those who participated, 18 were interviewed in English, 5 in Spanish, and 1 in Haitian Creole. No participants reported having a pathogenic variant identified with genetic testing. Study participants identified a number of gaps in results communication which led to misconceptions regarding hereditary cancer risk. Three themes were generated: (1) Patients desired clear communication about the next steps after genetic testing, (2) Patients commonly experienced cognitive dissonance with negative genetic results given personal and family history of cancer, and (3) Patients felt reassurance from negative genetic results. This research suggests that maintaining conversations between patients and healthcare providers alongside the delivery of negative results assists in patient comprehension. Additionally, it is essential to evaluate the accessibility and appropriateness of notes and results sent to patients. Ultimately, understanding communication barriers in genetic results return is imperative in order to provide high‐quality genetic care.
Abstract Critically examining the way that the field of clinical genetics has impacted queer communities offers the field an opportunity to strengthen our commitment to inclusive high‐quality care to all patients, families, and communities. This article reviews the origins of clinical genetics and genetic counseling in the eugenics movement and how this ontology promoted harmful medical practices grounded in assumptions of what is “normal.” We critically examine existing clinical genetics practices and how commonly used binary frameworks for gender, sex, and sexuality perpetuate heteronormative, cisnormative, and bioessentialist assumptions. In order to move toward queer inclusivity, the genetic counseling field must first take accountability for past injustices. Restorative justice and trauma‐informed approaches offer a way to engage with the queer community and to begin to rectify the history of medical harm. Through our analysis, we advocate for expanding efforts to depathologize queerness, promote bodily autonomy, and provide equitable healthcare for the queer community.
Abstract While many patients with disabilities or chronic illnesses are served by genetic counselors, little effort has been made to promote the inclusion of individuals with disabilities and chronic illnesses as professionals in the genetic counseling field. Genetic counselors with disabilities and chronic illnesses have reported insufficient support from their colleagues throughout all stages of their professional journeys, but there is a lack of research exploring these challenges. To gain an understanding of the experiences of this community during graduate training, we conducted semi‐structured interviews with 13 recent graduates of genetic counseling programs who identify as having a disability or chronic illness. Questions explored various aspects of the graduate school experience including challenges, strengths, relationships, disclosure, and accommodations. Qualitative thematic analysis of interview transcripts resulted in six themes: (1) decisions around disclosure are complex, (2) interactions with others contribute to feeling misunderstood, (3) the high‐performance culture in graduate programs makes it challenging to meet personal needs, (4) interpersonal relationships provide support, (5) the accommodation process is often disappointing, and (6) lived experiences are valuable to patients. This study reveals opportunities to better support genetic counseling students with disabilities and chronic illnesses through strengthening inclusion efforts, shifting away from ableist ideologies, and promoting more flexible training options.
