Insights into genetic assistant practice and the workforce in North America

9.8.2023

Genetic assistant positions are now widely integrated in genetic services to address genetic counselor shortages and ultimately improve efficiency. While over 40% of genetic counselors report working with a genetic assistant (“NSGC Professional Status Survey: Work Environment,” 2022), there is limited information about the genetic assistant workforce.

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Electronic medical record documentation of germline genetic evaluations in patients with ovarian cancer

9.8.2023

Germline genetic evaluation is indicated for all patients with epithelial ovarian cancer (EOC). For testing to have clinical utility, results must be documented within the electronic medical record (EMR) and accessible to providers at the point of care, which can be challenging in the context of current EMR limitations and genetic testing processes.

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Parent perspectives on disclosing a pediatric neurofibromatosis type 1 diagnosis

9.8.2023

Neurofibromatosis 1 (NF1) is a common genetic disorder typically diagnosed in childhood and characterized by cutaneous findings, nerve sheath tumors, skeletal abnormalities, malignancies, and developmental differences. Due to its variability, NF1 is an unpredictable condition that parents have concerns about discussing with their children. While there are publications addressing the disclosure of genetic conditions in general, no NF1-specific disclosure literature exists.

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Evaluating attributes of a collaborative model of service delivery for hereditary cancer risk assessment

9.8.2023

The purpose of this nonrandomized study was to compare several attributes of hereditary cancer risk assessment using a collaborative model of service delivery. Arm 1 included patients seen in-person by a board-certified genetic counselor (CGC), Arm 2 included high-complexity triaged patients from distant sites who received telegenetics with a CGC, and Arm 3 included low-complexity triaged patients from distant sites who had in-person risk assessment with a locally placed genetic counselor extender (GCE).

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How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty

9.8.2023

Ataxia-telangiectasia (A-T) is a rare, childhood-onset, multi-systemic, progressive condition. Parents of children with rare diseases like A-T are emotionally, socially, and psychologically impacted by the diagnosis. To examine the parental perspective of having a child with A-T, and to better understand how parents cope with an A-T diagnosis, we conducted 10 semistructured interviews

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Clinical and laboratory genetic counseling assistants: Comparing background experiences, responsibilities, satisfaction, and career goals

9.8.2023

Understanding the responsibilities, qualifications, future plans, and contributions of genetic counseling assistants (GCAs) across all work settings could aid in establishing a scope of practice, advocating for creation of GCA positions, and informing future education and training for GCAs and genetic counselors.

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Uptake of genetic testing among patients seeking cancer genetic counseling in Taiwan

9.8.2023

Genetic testing is becoming increasingly available and affordable. Understanding the reasons for individual decisions about genetic testing may assist in the identification of clinically appropriate use of genetic counseling and genetic testing resources. With the ongoing development of cancer genetic counseling services in Taiwan, we conducted this study to understand the characteristics of those seeking cancer genetic counseling and genetic testing and the predictors for undergoing genetic testing after counseling.

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Experiences of genetic counseling students with disabilities and chronic illnesses: A qualitative study

9.8.2023

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.

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Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: “Not weak or fragile?”

9.8.2023

Complicated genetic mechanisms and unpredictable health risks associated with the FMR1 premutation can result in challenges for patient education when the diagnosis is made in a newborn. From October 15, 2018, to December 10, 2021, North Carolina parents could obtain FMR1 premutation results about their newborns through a voluntary expanded newborn screening research study.

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A Qualitative Study Exploring LGBTQ Genetic Counseling Students' Relationships with Peers and Faculty in Graduate School

9.8.2023

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

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