Abstract Intersex individuals, encompassing people with diverse sex characteristics that do not fit binary frameworks of sex, have long faced a history of medical secrecy, discrimination, and societal stigma, contributing to their limited social visibility. In recent years, increased awareness of intersex issues and a robust advocacy movement have drawn significant attention to the experiences of intersex individuals and their families. This study contributes to the existing literature by examining the experiences and needs of parents of intersex individuals within genetic healthcare systems ..read more

Abstract Predictive genetic testing is increasingly available for individuals with a heightened risk of motor neuron disease (MND). However, little is known about how they decide whether or not to get tested, and how they experience this process. This paper reports findings from a constructivist grounded theory-informed interview study with 24 family members of people with identified or suspected inherited MND (iMND). Fourteen did not know their genetic status, and nine had decided to have predictive testing, of whom six tested positive for the pathogenic gene variant identified in their famil ..read more

Abstract Rapidly evolving genomic technologies have made genetic expanded carrier screening (ECS) possible for couples considering a pregnancy. The aim of ECS is to identify couples at risk of having a child affected with a severe disorder and to facilitate their reproductive decision-making process. The ECS test we offer at our center, called BeGECS (Belgian Genetic ECS), consists of 1268 autosomal recessive (AR) and X-linked pathogenic genes, including severe childhood-onset disorders. However, thus far data are scarce regarding the actual uptake of preconception ECS in a clinical setting. T ..read more

Abstract The introduction of cell-free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor-reported parental questions regarding sex, gender, and sexual orientation. Forty-eight prenatal genetic counselors completed the survey. When asked to quantify their experiences, 97.9% of counselors reported disclosing a SCAs positive screen result within the previous year, and 81.3% disclosed a diagnostic result ..read more

Abstract This study set out to investigate the experiences of bilingual/multilingual genetic counselors in the United States and Canada who have counseled in a non-English language and characterize their training experiences to identify potential areas for improvement. A total of 32 bilingual and/or multilingual genetic counselors completed online surveys. Approximately 83% of participants typically counsel patients in languages for which they believe their proficiency is at least good without the participation of an interpreter. Challenges to providing language-concordant care include insuffi ..read more

Abstract 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. We c ..read more

Journal of Genetic Counseling, EarlyView ..read more

Abstract Ultra rare disorders are being diagnosed at an unprecedented rate, due to genomic sequencing. These diagnoses are often a new gene association, for which little is known, and few share the diagnosis. For these diagnoses, we use the term emerging-ultrarare disorder (E-URD), defined as <100 diagnosed individuals. We contacted 20 parents of children diagnosed with an E-URD through the Duke University Research Sequencing Clinic. Seventeen completed semi-structured interviews exploring parental perspectives (7/17 had children in publications describing the phenotype; 4/17 had children i ..read more

Abstract APOE codes for apolipoprotein E (ApoE), which plays an important role in lipid and lipoprotein metabolism and homeostasis of tissue lipid content. Several variants in APOE have been associated with inherited dyslipidemias, and a subsequent increased risk of developing premature coronary artery disease (CAD). However, these variants and their impact on risk can be thought of on a spectrum, with some being more monogenic in nature, and others contributing in a polygenic/multifactorial manner. Despite these known associations, there is often hesitancy around ordering APOE genetic testing ..read more

Abstract Between 2018 and 2023, one percent of matched applicants to North American genetic counseling graduate programs (GCGPs) have been international applicants (IAs). The COVID-19 pandemic led to changes in the GCGP application processes in 2020, most notably the incorporation of virtual interviews and GRE waivers, which uniquely impacted IAs. Twelve international genetic counseling (GC) students who matriculated into a U.S.-based GCGP in 2021 or 2022 participated in this qualitative study (42% of the total enrolled) to understand their application experience. Cost, location of the program ..read more