Deconstructing imposter syndrome among BIPOC genetic counseling students: Insights from a longitudinal qualitative study.

"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.

The impact of cohort relationships on BIPOC genetic counseling students: Results from a longitudinal qualitative study.

The transition to graduate school is marked by stress, with academic demands and interpersonal interactions being primary concerns for genetic counseling students. For Black, Indigenous, and People of Color (BIPOC) graduate students, additional stressors caused by the "minority tax" and microaggressions impact their sense of belonging and inclusion. This prospective longitudinal study employed a constructivist grounded theory approach to investigate the experiences of first-year BIPOC genetic counseling students as they transitioned into the first year of their graduate training.

Exploring the impact of microaggressions on the genetic counseling student-supervisor relationship: A qualitative study.

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 to explore the impact of microaggressions on student training, with a specific focus on the supervisory working alliance.

BIPOC students' paths to genetic counseling: Results from a longitudinal qualitative study.

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 barriers and familial discouragement based on a preference for medical school may disproportionately impact BIPOC applicants.

Exploring the occurrence of microaggressions in the genetic counseling student-supervisor relationship: A mixed-methods study.

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 programs in the United States during fieldwork rotations. A quantitative survey was administered to assess how frequently 14 different types of microaggressions occurred in interactions with supervisors.

A qualitative study of LGBTQIA+ genetic counselors' experiences while applying to graduate school.

Research has shown that lesbian, gay, bisexual, transgender, queer, intersex, asexual and other sexual and gender minority (LGBTQIA+) healthcare students experience discrimination during admissions and training. While several studies have examined the experiences of racial and ethnic minorities within the genetic counseling field, the admissions experiences of LGBTQIA+ individuals have not been explored. Through semi-structured interviews, this qualitative study investigated the experiences of ten LGBTQIA+ genetic counselors and genetic counseling students during graduate school admissions.

A qualitative study exploring LGBTQ genetic counseling students' relationships with peers and faculty in graduate school.

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.

The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group.

Patients with familial pulmonary fibrosis represent a subset of patients with pulmonary fibrosis in whom inherited gene variation predisposes them to disease development. In the appropriate setting, genetic testing allows for personalized assessment of disease, recognition of clinically relevant extrapulmonary manifestations, and assessing susceptibility in unaffected relatives. However currently, the use of genetic testing is inconsistent, partly because of the lack of guidance regarding high-yield scenarios in which the results of genetic testing can inform clinical decision-making.

Transgender patients' perspectives on their cancer genetic counseling experiences.

Transgender (trans) individuals face many forms of discrimination in accessing health care, including lack of provider knowledge and denial of services. Barriers specific to the cancer setting include limited availability of information concerning cancer management and its potential impact on gender affirmation therapies and minimal training for providers regarding inclusive practices for the trans population. The limited research about the experiences of cancer genetic counseling for trans patients has investigated exclusively the perspective of the provider, not the patient.

Examining clinical training through a bicultural lens: Experiences of genetic counseling students who identify with a racial or ethnic minority group.

Biculturals are individuals who have had significant exposure to more than one culture and who possess more than one cultural frame of reference. In the United States, this term has been used to describe both immigrants and members of racial or ethnic minority groups who live within the majority white culture. Biculturals develop a distinct repertoire of social and cognitive skills and have been shown to engage in a process of cultural frame switching in response to salient cultural cues.

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Background And Aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD in a subset of patients with a unique clinical presentation.

Supporting a sense of inclusion and belonging for genetic counseling students who identify as racial or ethnic minorities.

Racial and ethnic minority graduate students in a variety of academic and professional disciplines have been reported to experience microaggressions and feelings of isolation during the course of their training. The purpose of this constructivist grounded theory study was to characterize the training experiences of genetic counseling students who identify as racial or ethnic minorities. The goal of enhancing racial and ethnic diversity has been discussed for decades within the genetic counseling profession, but the actual training experience of underrepresented minorities has yet to be fully explored.

Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals.

Screening for pulmonary fibrosis may help to identify early stages of the disease. We assessed the psychological impact of screening undiagnosed first-degree relatives of patients with pulmonary fibrosis by administering two validated measures after participants received their results: the Decisional Regret Scale and the Feelings About genomiC Testing Results Questionnaire. More than 90% of relatives reported either no or mild decisional regret.

ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.

A pedigree of subjects presented with frontonasal dysplasia (FND). Genome sequencing and analysis identified a p.L165F missense variant in the homeodomain of the transcription factor ALX1 which was imputed to be pathogenic.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

The translocase of outer mitochondrial membrane (TOMM) complex is the entry gate for virtually all mitochondrial proteins and is essential to build the mitochondrial proteome. TOMM70 is a receptor that assists mainly in mitochondrial protein import. Here, we report two individuals with de novo variants in the C-terminal region of TOMM70.

Conscripted curriculum: The experiences of minority genetic counseling students.

While the lack of racial and ethnic diversity in the genetic counseling profession has been discussed for decades, little attention has been paid to the training experiences of under-represented minorities. Under-represented minority graduate students in other disciplines have been reported to experience microaggressions and feelings of isolation during training, and they are often informally enlisted to educate classmates about issues related to race. In 2019, sociologist Lauren Olsen coined the term conscripted curriculum to describe the utilization of minority medical students to elucidate issues of race or ethnicity for their classmates.

Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis.

Although relatives of patients with familial pulmonary fibrosis (FPF) are at an increased risk for interstitial lung disease (ILD), the risk among relatives of sporadic idiopathic pulmonary fibrosis (IPF) is not known. To identify the prevalence of interstitial lung abnormalities (ILA) and ILD among relatives of patients with FPF and sporadic IPF. Undiagnosed first-degree relatives of patients with pulmonary fibrosis (PF) consented to participate in a screening study that included the completion of questionnaires, pulmonary function testing, chest computed tomography, a blood sample collection for immunophenotyping, telomere length assessments, and genetic testing.

Homozygous mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Objective: To identify the genetic cause of disease in a form of congenital spinal muscular atrophy and arthrogryposis (CSMAA).

Methods: A 2-year-old boy was diagnosed with arthrogryposis multiplex congenita, severe skeletal abnormalities, torticollis, vocal cord paralysis, and diminished lower limb movement. Whole-exome sequencing (WES) was performed on the proband and family members.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery.

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN), as the ELN locus is included within the WBS critical region at 7q11.23.

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Thoracic aortic aneurysms and dissections (TAAD) represent a substantial cause of morbidity and mortality worldwide. Many individuals presenting with an inherited form of TAAD do not have causal mutations in the set of genes known to underlie disease. Using whole-genome sequencing in two first cousins with TAAD, we identified a missense mutation in the lysyl oxidase (LOX) gene (c.

"Is it going to hurt?": the impact of the diagnostic odyssey on children and their families.

The pediatric diagnostic odyssey is a period of uncertainty and emotional turmoil for families, often characterized by multiple minor medical procedures (such as venipuncture) that children may find distressing. Interventions to reduce distress are rarely offered, despite evidence that this is crucial both for avoiding anticipatory anxiety before future procedures and for improving healthcare compliance in adulthood. We interviewed ten mothers of children with neuromuscular disorders, asking about their perceptions of their child's experiences with different medical procedures, the emotional impact of the diagnostic odyssey, implications of obtaining a diagnosis, and interactions with healthcare providers.