Publications by authors named "Megan Betts"
The IMPACT-FH study implemented strategies (packet, chatbot, direct contact) to promote family member cascade testing for familial hypercholesterolemia (FH). We evaluated the impact of genetic counseling (GC) on medical outcomes, strategy selection, and cascade testing. Probands (i.
View Article and Find Full Text PDFBackground: Malignant hyperthermia (MH) susceptibility is a heritable musculoskeletal disorder that can present as a potentially fatal hypermetabolic response to triggering anesthesia agents. Genomic screening for variants in MH-associated genes RYR1 and CACNA1S provides an opportunity to prevent morbidity and mortality. There are limited outcomes data from disclosing variants in RYR1, the most common MH susceptibility gene, in unselected populations.
View Article and Find Full Text PDFArticle Synopsis
- * The disease has a familial link, with genetic factors accounting for an estimated 20%-35% of cases, prompting research into its hereditary nature.
- * Future studies aim to better understand the genetic and structural components of MVP and related heart rhythm disorders to improve patient risk assessment and management strategies.
Objective: To assess use of two web-based conversational agents, the Family Sharing Chatbot (FSC) and One Month Chatbot (OMC), by individuals with familial hypercholesterolemia (FH).
Methods: FSC and OMC were sent using an opt-out methodology to a cohort of individuals receiving a FH genetic result. Data from 7/1/2021 through 5/12/2022 was obtained from the electronic health record and the chatbots' HIPAA-secure web portal.
Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.
Curr Atheroscler Rep
May 2023
Purpose Of Review: Genetic testing has proven utility in identifying and diagnosing individuals with FH. Here we outline the current landscape of genetic testing for FH, recommendations for testing practices and the efforts underway to improve access, availability, and uptake.
Recent Findings: Alternatives to the traditional genetic testing and counseling paradigm for FH are being explored including expanding screening programs, testing in primary care and/or cardiology clinics, leveraging electronic communication tools like chatbots, and implementing direct contact approaches to facilitate genetic testing of both probands and at-risk relatives.
Article Synopsis
- Limited data exists on clinician and participant behaviors after revealing genomic risk variants for familial hypercholesterolemia (FH) from a screening program.
- A study involving 96 participants analyzed clinician prescription changes, participant medication adherence, and LDL cholesterol levels before and after disclosing the FH risk variant.
- Results showed that, although many patients improved their adherence to medication and achieved lower LDL levels post-disclosure, a significant number still experienced nonprescribing issues and continued nonadherence to lipid-lowering therapies.
Purpose: Three genetic conditions-hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia-have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.
Methods: Observational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger's MyCode project.