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lctgmeetingsummary20251008 [2025.10.09 11:00] – Steve Isenberglctgmeetingsummary20251008 [2025.10.09 11:08] (current) – Steve Isenberg
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 ====Quick recap==== ====Quick recap====
  
-Susan shared personal stories about family members who died from dilated cardiomyopathy to highlight the importance of genetic testing and screening for heart conditions. She discussed the complexities of genetic mutations, testing methods, and the need for universal screening, while addressing common myths and challenges about genetic testing. Susan explored advancements in genetic cures and testing options, emphasizing the importance of early detection and treatment, and shared information about her book and resources for genetic testing. +Susan Liebman shared personal stories about family members who died from dilated cardiomyopathy to highlight the importance of genetic testing and screening for heart conditions. She discussed the complexities of genetic mutations, testing methods, and the need for universal screening, while addressing common myths and challenges about genetic testing. Susan explored advancements in genetic cures and testing options, emphasizing the importance of early detection and treatment, and shared information about her book and resources for genetic testing.
-Next steps+
  
 ====Summary==== ====Summary====
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 ===Genetic Testing for Heart Health=== ===Genetic Testing for Heart Health===
-Susan discussed the importance of genetic testing and screening to prevent heart disease tragedies, highlighting that despite clear guidelines, adoption by cardiologists remains low. She addressed myths about genetic testing, such as its high cost and complexity, emphasizing that it is now affordable and relatively straightforward. Susan also explained that genetic heart conditions can affect people of all ages and that learning about mutations can lead to early interventions that save lives. She concluded by describing the different genetic bases for heart disease and the prevalence of cardiomyopathies caused by genetic mutations, emphasizing the need for proactive treatment to prevent sudden death.+Susan discussed the importance of genetic testing and screening to prevent heart disease tragedies, highlighting that despite clear guidelines, adoption by cardiologists remains low. She addressed myths about genetic testing, such as beliefs of its high cost and complexity, emphasizing that it is now affordable and relatively straightforward. Susan also explained that genetic heart conditions can affect people of all ages and that learning about mutations can lead to early interventions that save lives. She concluded by describing the different genetic bases for heart disease and the prevalence of cardiomyopathies caused by genetic mutations, emphasizing the need for proactive treatment to prevent sudden death.
  
 ===Genetic Mutations and Clinical Implications=== ===Genetic Mutations and Clinical Implications===
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 ===Universal Genetic Screening Advocacy=== ===Universal Genetic Screening Advocacy===
-Susan shared personal stories about genetic testing and family history to illustrate the complexities of penetrance and the importance of universal screening. She emphasized that having a genetic mutation does not guarantee disease onset and can be passed to future generations, highlighting the need for testing beyond family history. Susan argued for universal screening for actionable genetic mutations, comparing it to existing newborn screenings, and criticized the American College of Medical Genetics' stance on genetic testing. She suggested that testing could be confidential and affordable, and emphasized the need for education and follow-up care for doctors and patients.+Susan shared personal stories about genetic testing and family history to illustrate the complexities of penetrance and the importance of universal screening. She emphasized that having a genetic mutation does not guarantee you'll have the disease, but the mutation can be passed to future generations, highlighting the need for testing beyond family history. Susan argued for universal screening for actionable genetic mutations, comparing it to existing newborn screenings, and criticized the American College of Medical Genetics' stance on genetic testing. She suggested that testing could be confidential and affordable, and emphasized the need for education and follow-up care for doctors and patients.
  
 ===Advancements in Genetic Cures=== ===Advancements in Genetic Cures===
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 ===Genetic Testing and Family Health=== ===Genetic Testing and Family Health===
-Susan shared a trailer for her book, ”The Dressmaker's Mirror,” which explores genetic testing and its role in protecting families from inherited diseases. She explained the concept of founder mutations, using Ashkenazi Jews as an example, and discussed the importance of genetic testing in preventing sudden deaths. Susan also mentioned receiving positive publicity for her book, including a review in Hadassah Magazine and an article in Forward, an online Jewish newspaper. She shared personal stories about how her niece's death influenced her work in cardiovascular genetics and inspired her to promote genetic testing.+Susan shared a trailer for her book, //The Dressmaker's Mirror//, which explores genetic testing and its role in protecting families from inherited diseases. She explained the concept of founder mutations, using Ashkenazi Jews as an example, and discussed the importance of genetic testing in preventing sudden deaths. Susan also mentioned receiving positive publicity for her book, including a review in Hadassah Magazine and an article in Forward, an online Jewish newspaper. She shared personal stories about how her niece's death influenced her work in cardiovascular genetics and inspired her to promote genetic testing.
  
 ===Genetic Testing: Opportunities and Challenges=== ===Genetic Testing: Opportunities and Challenges===
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 ===Genetic Testing and Analysis Challenges=== ===Genetic Testing and Analysis Challenges===
-Susan presented on genetic testing, explaining the differences between panel testing for specific genes and whole genome sequencing. She discussed the challenges of analyzing genetic data, including the complexity of polygenic conditions where multiple genes contribute to a disease. Susan emphasized that current genetic testing systems are not yet fully developed to provide comprehensive analysis of complex genetic conditions, and expressed concerns about the lack of transparency in some genetic testing practices. The group discussed the potential for AI and computer systems to improve genetic research and analysis in the future.+Susan  explained the differences between panel testing for specific genes and whole genome sequencing. She discussed the challenges of analyzing genetic data, including the complexity of polygenic conditions where multiple genes contribute to a disease. Susan emphasized that current genetic testing systems are not yet fully developed to provide comprehensive analysis of complex genetic conditions, and expressed concerns about the lack of transparency in some genetic testing practices. The group discussed the potential for AI and computer systems to improve genetic research and analysis in the future.
lctgmeetingsummary20251008.txt · Last modified: by Steve Isenberg