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 ====Quick recap====
+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.
+====Summary====
+===Genetic DCM: A Family Tragedy===
+Susan shared personal stories about family members who died from dilated cardiomyopathy (DCM), a heart condition. She described how her sister's initial diagnosis of bronchitis and pneumonia was actually heart failure, and how her niece Karen and Grant Wald also died from DCM despite no family history of the condition. Susan, as a geneticist, realized the deaths were likely caused by genetic mutations rather than viruses, and traced the condition to her father's side of the family. The story concluded with her father's sudden death, which went uninvestigated due to her mother's religious objections to an autopsy.
+===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 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===
+Susan explained how monogenic mutations can cause disease by disrupting protein function, distinguishing between recessive and dominant mutations. She emphasized that genetic testing can help detect disease early but requires follow-up clinical care, as not all pathogenic mutations guarantee illness. Susan discussed the challenges of classifying variants of unknown significance and highlighted the importance of actionable genes, which are genes where mutations can lead to interventions or treatments. She also covered the use of preimplantation genetic testing for expectant parents and the need for increased clinical screenings for individuals with mutations in actionable genes.
+===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 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===
+Susan discussed the advancements in genetic cures, including CRISPR and a specific injection for spinal muscular atrophy. She explained how engineering feats like adding or amplifying genes can prevent or treat diseases caused by protein deficiencies. Susan highlighted the importance of genetic testing for early treatment and protection, mentioning the 84 actionable genes in a testing panel. She encouraged attendees to consider getting tested, offering resources like Picture Genetics and the Genetic Cardiomyopathy Awareness Consortium for affordable and free testing options. Susan also promoted ConnectMyVariant.org, an organization that helps individuals find others with the same mutations to warn them of potential risks.
+===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.
+===Genetic Testing: Opportunities and Challenges===
+Susan explained the limitations and potential of genetic testing, noting that current tests sequence a small portion of DNA and are not clinical, but can identify genes linked to diseases. She discussed the possibility of modifying genes with CRISPR and the importance of early detection and treatment. Susan also addressed the debate over sequencing all infants' DNA, highlighting concerns about consent and privacy. She emphasized the need for regular genetic testing to keep up with new discoveries and the importance of analyzing results oneself, though she recommended waiting for a more reliable company to offer this service. John inquired about increased training in genetics at major schools, to which Susan responded that while there is growing interest, genetic counseling faces challenges due to limited job opportunities and restrictive laws.
+===Genetic Testing Privacy Options Discussed===
+Susan discussed genetic testing options, noting that while academic sequencing groups can provide confidential results directly to individuals, most companies require results to be shared with a doctor. She mentioned that George Church's company offers direct-to-consumer genome sequencing for around $500 annually, allowing individuals to interpret the data themselves. Susan agreed to provide a list of genetic counselors and testing options to John, emphasizing that some methods maintain privacy better than others.
+===Genetic Testing and Analysis Challenges===
+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.