Publications by authors named "Katherine A Wilemon"
Background Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic data in the same cohort. Methods and Results Using the Geisinger MyCode Community Health Initiative cohort (n=130 257), we ran 2 screening algorithms (Mayo Clinic [Mayo] and flag, identify, network, deliver [FIND] FH) to determine FH genetic and phenotypic diagnostic yields. With 29 243 excluded by Mayo (for secondary causes of hypercholesterolemia, no lipid value in electronic health records), 52 034 excluded by FIND FH (insufficient data to run the model), and 187 excluded for prior FH diagnosis, a final cohort of 59 729 participants was created.
View Article and Find Full Text PDFObjective: To explore alignment of perspectives from individuals and families with familial hypercholesterolemia (FH) to the FH Global Call to Action recommendations.
Methods: Interviews and focus groups were conducted with individuals and families with FH from multiple U.S.
Background: The Dutch cascade screening model for FH was the most successful of such programs in the world. It remains unclear whether aspects of the Dutch model (i.e.
View Article and Find Full Text PDFPurpose Of Review: To highlight the gender-based differences in presentation and disparities in care for women with familial hypercholesterolemia (FH).
Recent Findings: Women with FH experience specific barriers to care including underrepresentation in research, significant underappreciation of risk, and interrupted therapy during childbearing. National and international registry and clinical trial data show significant healthcare disparities for women with FH.
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.
JAMA Cardiol
February 2020
Article Synopsis
- - Familial hypercholesterolemia (FH) is a genetic condition affecting 1 in 200 to 250 people globally, causing severe health risks due to lack of diagnosis and treatment, with only 10% of cases being identified.
- - The World Health Organization designated FH as a public health priority in 1998 and issued 11 recommendations to improve its diagnosis, treatment, and awareness, but there has been minimal progress in their implementation over the last two decades.
- - In 2018, the FH Foundation and World Heart Federation held meetings to update these recommendations by gathering input from international stakeholders across various income regions to address gaps and enhance FH management.
Article Synopsis
- * It uses familial hypercholesterolemia (FH) as a case study, highlighting the need for identifying causative variants to enhance treatment and support family screenings.
- * The Clinical Genome Resource and the FH Variant Curation Expert Panel are working to increase the submission of variants to ClinVar while identifying areas for improvement in data submission to enhance variant interpretation for FH patients.
Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing.
View Article and Find Full Text PDFArticle Synopsis
- - Cascade screening involves reaching out to relatives of individuals diagnosed with hereditary conditions to identify and manage others at risk, aiming for better health outcomes among potentially affected family members.
- - A review of 122 studies from 1990-2017 found that direct contact by trained providers with relatives increases participation in cascade screening, but state policies can restrict this method, highlighting key barriers like poor communication and geographic access to services.
- - There is a significant gap in rigorous research on cascade screening interventions in the US, indicating a need for further studies that consider state policies and aim for effective practices in diverse populations.