Publications by authors named "Jessica Denton"

Article Synopsis
  • - Prader-Willi syndrome (PWS) is a genetic disorder due to missing genes on chromosome 15, leading to excessive eating, behavior issues, and varying intellectual disability, making early diagnosis and communication tricky for families.
  • - A study investigated how parents of children with PWS share the diagnosis with their kids, using surveys and interviews from 51 parents, revealing that 90% had disclosed some information based on their knowledge and their child's age or presence of siblings.
  • - The analysis identified 15 themes on parents' motivations and methods for disclosing the diagnosis, offering insights for others facing similar situations with rare conditions.
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The study aim was to determine caregiver interest and planned utilization of pharmacogenomic (PGx) results for their child with Prader-Willi syndrome. Caregivers consented to PGx testing for their child and completed a survey before receiving results. Of all caregivers (n = 48), 93.

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Article Synopsis
  • This study investigates patient and parent experiences after participating in an Undiagnosed Diseases Program (UDP) at UAB, using in-depth interviews to gain insights.
  • Participants appreciated the opportunity to be seen by the UDP, but their perspectives on the experience varied depending on whether they received a diagnosis.
  • The findings highlight positive aspects of the program while revealing unmet needs in communication and follow-up, suggesting areas for improvement that could benefit similar clinics.
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Aims: Type 2 diabetes is a major public health problem for the global community. Having a family history of diabetes significantly increases risk for diabetes development and understanding how family history contributes to diabetes risk could lead to more effective prevention efforts for at-risk individuals. In a previous study, we showed family history of diabetes is a significant predictor of fasting insulin in healthy weight children.

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Purpose: In this ongoing case series, 33 genetic testing cases are documented in which tests were recommended, ordered, interpreted, or used incorrectly and/or in which clinicians faced challenges related to history/reports provided by patients or laboratories.

Methods: An invitation to submit cases of challenges or errors in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, as part of a case series with Precision Oncology News, and via social media (i.e.

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Objective: The purpose of this study is to investigate the effectiveness of a genetics educational module created to improve understanding about the genetics of diabetes, assess motivation to engage in healthy lifestyle behaviors, and gauge interest in genetic testing for diabetes.

Methods: Participants were recruited from the Multidisciplinary Comprehensive Diabetes Clinic at the University of Alabama at Birmingham. Participants completed a pre-survey to assess three domains: (1) knowledge about diabetes etiology and testing, (2) healthy lifestyle behaviors, and (3) interest in genetic testing.

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Article Synopsis
  • * Despite these recommendations, a significant gap remains in the implementation of carrier screening, with many individuals unaware of the benefits and risks involved, particularly in Jewish communities.
  • * To improve awareness and access, Emory University's genetic counselors launched the JScreen program, which offers a comprehensive approach including marketing, online education, at-home testing, and genetic counseling services.
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