Platform Session 7: Genetic Data, Health Services, and ELSI
21 Mar 2025
Meeting Room:
Petree Hall C
Clinical Genetics and Therapeutics
,
Health Services and Implementation
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Accredited:
- Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O23 - Genotype-First Analysis of Individuals in the All of Us Research Program with Pathogenic Variation Causal for Three Highly Penetrant Conditions
O30 - Frequency of Thoracic Aortic Aneurysm, Dissection, and Premature Coronary Artery Disease in an Unselected Healthcare Population Receiving ACTA2 Results
O35 - A Genotype-first Approach Among Adults at Risk for Treatable Monogenic Disorders Reveals Underdiagnosis and Incomplete Penetrance
O45 - Social Determinants of Health and the Genetic Diagnostic Evaluation in the Neonatal Intensive Care Unit
O46 - Knowledge of Family Health History and its Association with Social Determinants of Health and Personal Medical History
O47 - Fine-tuned Large Language Models on Clinical Notes and Structured ICD-10 Codes Facilitate Making Genetic Test Decisions for Rare Diseases
O23 - Genotype-First Analysis of Individuals in the All of Us Research Program with Pathogenic Variation Causal for Three Highly Penetrant Conditions
O30 - Frequency of Thoracic Aortic Aneurysm, Dissection, and Premature Coronary Artery Disease in an Unselected Healthcare Population Receiving ACTA2 Results
O35 - A Genotype-first Approach Among Adults at Risk for Treatable Monogenic Disorders Reveals Underdiagnosis and Incomplete Penetrance
O45 - Social Determinants of Health and the Genetic Diagnostic Evaluation in the Neonatal Intensive Care Unit
O46 - Knowledge of Family Health History and its Association with Social Determinants of Health and Personal Medical History
O47 - Fine-tuned Large Language Models on Clinical Notes and Structured ICD-10 Codes Facilitate Making Genetic Test Decisions for Rare Diseases
Agenda
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Welcome1:30 PM – 3:00 PM -
1:30 PM – 3:00 PM -
Genotype-First Analysis of Individuals in the All of Us Research Program with Pathogenic Variation Causal for Three Highly Penetrant Conditions1:30 PM – 1:45 PM -
Frequency of Thoracic Aortic Aneurysm, Dissection, and Premature Coronary Artery Disease in an Unselected Healthcare Population Receiving ACTA2 Results1:45 PM – 2:00 PM -
A Genotype-first Approach Among Adults at Risk for Treatable Monogenic Disorders Reveals Underdiagnosis and Incomplete Penetrance2:00 PM – 2:15 PM -
Social Determinants of Health and the Genetic Diagnostic Evaluation in the Neonatal Intensive Care Unit2:15 PM – 2:30 PM -
Knowledge of Family Health History and its Association with Social Determinants of Health and Personal Medical History2:30 PM – 2:45 PM -
Fine-tuned Large Language Models on Clinical Notes and Structured ICD-10 Codes Facilitate Making Genetic Test Decisions for Rare Diseases2:45 PM – 3:00 PM
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