A Systematic Framework for the Interpretation of Copy Number Variants - Webinar - Ambry Genetics
Explore a systematic framework for interpreting copy number variants in genetic testing. Learn about proposed updates to guidelines, evidence-based evaluation, and improving interlaboratory consistency.
Genetic Testing for Breast Cancer Susceptibility - Webinar - Ambry Genetics
Explore hereditary cancer genetics, testing technologies, and implications for breast and gynecologic cancers. Learn about key genes, risk factors, and the impact on medical management.
Inherited Cardiomyopathies - Genetic Heart Disease
Explore inherited cardiomyopathies, their genetic components, and management implications. Learn about diagnostic criteria, genetic testing, and clinical approaches for various heart conditions.
Familial Hypercholesterolemia - Genetic High Cholesterol - Webinar - Ambry Genetics
Explore genetic high cholesterol: symptoms, diagnosis, genetics, testing, and treatment. Learn about familial hypercholesterolemia and its impact on cardiovascular health.
Breast Cancer Risk Assessment Using the Tyrer Cuzick Model - Webinar - Ambry Genetics
Comprehensive overview of breast cancer risk assessment using the Tyrer-Cuzick model, covering key risk factors, recent updates, and potential applications for screening and prevention strategies.
Talking to Patients About Genetic Testing and Psychosocial Implications of That Discussion - Webinar
Explore psychosocial challenges in genetic testing decisions, communication strategies, and patient support. Learn to create personalized information plans and navigate emotional complexities across various hereditary conditions.
Review Tools of UCSC Genome Browser - Clinical Diagnostic Series - Webinar - Ambry Genetics
Explore UCSC Genome Browser's tools for visualizing and analyzing genomic data through an interactive demo, covering features like data tracks, multi-region browser, and personal genome snips.
The Family Experience with Sudden Death - Inherited Arrhythmias Series, Part 2 - Ambry Genetics
Explore the family perspective on sudden death due to inherited arrhythmias, featuring healthcare providers and patient experiences, with a focus on evaluation, genetic testing, and support.
What's Next in Epilepsy Genetic Testing - Webinar - Ambry Genetics
Explore advancements in epilepsy genetic testing, including refined panels, precision medicine, and next-generation sequencing techniques for improved diagnosis and treatment strategies.
Analyzing Historical Mutations in the Cystic Fibrosis Gene - Ambry Genetics
Genetic counselors analyze CFTR gene mutations, discussing reclassified variants and implications for genetic testing in cystic fibrosis and related disorders.
Ambry Genetics - Applications of Diagnostic Exome Sequencing
Explore diagnostic exome sequencing applications in neonatal intensive care, covering methods, results, case studies, and benefits of early genetic diagnosis for newborns.
Introduction to Hereditary Sarcoma and Genetic Counselling for Sarcoma - Ambry Genetics
Comprehensive overview of hereditary sarcoma, covering subtypes, associated syndromes, genetic testing, and management strategies for healthcare professionals and genetic counselors.
ISCC-PEG Scholars Presentations 2021-2023 - Genomics Education Projects
Virtual presentations by ISCC-PEG Scholars on genomics education projects, including OB-GYN genetics review and transgender experiences in hereditary cancer care. Features scholar introductions, Q&A sessions, and concluding remarks.
Exome Sequencing for Prenatal Indications
Explore recent developments in prenatal exome sequencing, including technical challenges, diagnostic considerations, and expanded indications for fetal anomalies and pregnancy-related findings.
Quality in Genetic Testing Laboratories - Opening the Black Box
Explore quality measures for genetic testing accuracy and clinical utility, with case-based examples demonstrating their impact on next-generation sequencing panel testing.
Improvements in Clinical Interpretation of Copy Number Variants (CNVs)
Explore advancements in clinical interpretation of Copy Number Variants (CNVs), addressing challenges and showcasing how unified guidelines can enhance consistency and quality in genomic diagnostics.
Opportunistic Screening for Medically Actionable Secondary Genomic Findings
Explore communication and outcomes of medically actionable secondary genomic findings, identifying research gaps and opportunities for genetic counselors to enhance precision medicine approaches.
Clinical Validity Assessment of Gene-Disease Associations for Variant Classification
Explore standardized assessment of gene-disease associations and its role in determining variant pathogenicity for clinical reporting, aiding in diagnosis and management of genetic conditions.
Familial Thoracic Aortic Aneurysms and Dissections - Genetic Testing and Patient Care
Explore hereditary cardiovascular diseases, focusing on thoracic aortic aneurysms and dissections. Learn how genetic testing enhances patient care for conditions like Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
Living with Familial Hemiplegic Migraine with Paralysis - The Patient's Experience
Explore familial hemiplegic migraine through a patient's perspective, understanding its genetic basis, symptoms, and management strategies for a healthier life despite challenges.
Interpreting Genetic Testing Results for Non-Genetics Providers
Guidance for non-genetics providers on interpreting genetic test results, considering patient history, and utilizing resources for result interpretation and patient care.