Publications by authors named "Lisa Saba"

Purpose: Exome sequencing (ES) and genome sequencing (GS) are useful tests to diagnose rare diseases in pediatric patients in critical care settings. Genomic test stewardship can increase the appropriate use of these tests leading to improved diagnostics and cost savings.

Methods: A mandatory review of ES and GS orders for admitted patients was implemented in March 2023.

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We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.

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Purpose: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing.

Methods: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project.

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Article Synopsis
  • The RPGR gene is important for understanding a type of eye disease called X-linked cone-rod dystrophy, and new tests can help find problems that older tests miss.
  • The Texome Project is working to help patients who haven't been helped by regular medical tests, believing that advanced testing could find more accurate diagnoses.
  • In one case, a 58-year-old man with vision problems didn't get answers from regular tests, but a new method found a specific genetic change that explained his condition.
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Purpose: Genome sequencing (GS) may shorten the diagnostic odyssey for patients, but clinical experience with this assay in nonresearch settings remains limited. Texas Children's Hospital began offering GS as a clinical test to admitted patients in 2020, providing an opportunity to study GS utilization, possibilities for test optimization, and testing outcomes.

Methods: We retrospectively reviewed GS orders for admitted patients for a nearly 3-year period from March 2020 through December 2022.

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Article Synopsis
  • The study aimed to explore the relationship between anxiety symptoms and key markers of Alzheimer's disease (AD) neuropathology, specifically amyloid-beta (Aβ) and tau proteins.
  • After reviewing 27 studies, the meta-analysis found no significant link between self-reported anxiety and either Aβ or tau levels in cognitively healthy adults.
  • The authors stress the need for larger and longer-term studies to investigate the impact of anxiety onset, severity, and chronicity on AD neuropathology, as well as to explore other potential neurobiological factors.
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Prenatal and preconception genetic counselors are trained to take patient pedigrees to evaluate for potential risks for genetic conditions, including hereditary cancer syndromes. However, little research has been published on how often prenatal/preconception genetic counselors provide recommendations for cancer genetic counseling solely based on a family history of cancer. Therefore, this study sought to (a) characterize the types of cancers recognized for a cancer genetic counseling recommendation, (b) analyze appointment indications associated with discussion documentation, and (c) investigate how often National Comprehensive Cancer Center (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome were met and how often a recommendation for cancer genetic counseling was made.

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