Publications by authors named "M Snir"

Background: National guidelines recommend germline genetic testing (GT) for all patients with early-onset colorectal cancer. With recent advances in targeted therapies and GT, these guidelines are expected to expand to include broader groups of patients with colorectal cancer. However, there is a shortage of genetic professionals to provide the necessary education and support for informed consent.

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Objective: To examine user uptake and experience with a clinical chatbot that automates hereditary cancer risk triage by collecting personal and family cancer history in routine women's health care settings.

Methods: We conducted a multicenter, retrospective observational study of patients who used a web-based chatbot before routine care appointments to assess their risk for hereditary breast and ovarian cancer, Lynch syndrome, and adenomatous polyposis syndromes. Outcome measures included uptake and completion of the risk-assessment and educational section of the chatbot interaction and identification of hereditary cancer risk as evaluated against National Comprehensive Cancer Network criteria.

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Article Synopsis
  • Familial hypercholesterolemia (FH) is a common genetic disorder that significantly increases the risk of early heart disease but often goes undiagnosed and untreated due to lack of systematic screening methods and limited family testing.
  • This study aims to enhance FH identification through automated and genomic techniques, while also improving family communication methods to encourage cascade testing among at-risk individuals.
  • The research will create a comprehensive guide based on implementation science to evaluate the effectiveness and sustainability of these new identification and testing strategies to ultimately reduce underdiagnosis of FH.
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Genetic testing can provide definitive molecular diagnoses and guide clinical management decisions from preconception through adulthood. Innovative solutions for scaling clinical genomics services are necessary if they are to transition from a niche specialty to a routine part of patient care. The expertise of specialists, like genetic counselors and medical geneticists, has traditionally been relied upon to facilitate testing and follow-up, and while ideal, this approach is limited in its ability to integrate genetics into primary care.

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Article Synopsis
  • The study aimed to compare how ocular motility deviation in strabismus patients changed using cycloplegic eye drops versus a prism adaptation test.
  • Data was collected from 43 patients who had strabismus surgery, focusing on 33 with exotropia, measuring motility deviation at various times during the tests.
  • Results showed that prism adaptation was statistically more effective than cycloplegic drops at assessing motility both during the tests and shortly after, making it the preferred method for pre-surgical evaluation.
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