Session date: May 22, 2023
Significant progress has been made in our understanding of the genetic susceptibility underlying pulmonary fibrosis, including elucidating the associations of rare variants in more than 12 genes including genes involved with surfactant metabolism and telomere maintenance. Researchers are beginning to understand how the presence of such variants informs clinical management and are incorporating genetic testing into their practice. This includes informing prognosis and treatment strategies for patients affected with ILD and characterizing risk for unaffected relatives. This session will review the state of research related to genetic variants and telomere length in ILD and provide a roadmap for how future clinical genetics will advance us towards precision medicine in ILD.
Significant progress has been made in our understanding of the genetic susceptibility underlying pulmonary fibrosis, including elucidating the associations of rare variants in more than 12 genes including genes involved with surfactant metabolism and telomere maintenance. Researchers are beginning to understand how the presence of such variants informs clinical management and are incorporating genetic testing into their practice. This includes informing prognosis and treatment strategies for patients affected with ILD and characterizing risk for unaffected relatives. This session will review the state of research related to genetic variants and telomere length in ILD and provide a roadmap for how future clinical genetics will advance us towards precision medicine in ILD.
• Understand how rare genetic variants and telomere length relate to interstitial lung disease risk, progression, and survival
• Describe the current approaches to genetic testing and telomere length testing in ILD and how to counsel patients
• Define future strategies for applying clinical genetics in the diagnosis and management of ILD
Bruno Crestani, MD, PhD
Chad Newton, MD
Janet Talbert, MS, CGC, LGC
Christine Garcia, MD, PhD
Julie Morisset, MD
Genetic Variants and ILD
Telomere Length and ILD
The Here and Now of ILD Genetics
The Future of Genetics in ILD: Diagnostic Applications - Presentation withheld at the speaker's request
The Future of Genetics in ILD: Therapeutic Applications