When Virtual seminar on Thursday 30 May 2024, 9am – 9.55am (AEST)
Where Online. Link will be provided in the registration confirmation email.
Registration Registration is free and available here.
Join Australian Genomics’ DNA dialogue seminar, “Evolving guidelines for variant classification“, featuring Dr Leslie Biesecker from the Centre for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health in the US.
The variant classification categories used widely in today’s clinical genetic and genomic testing derived from recommendations of the American College of Medical Genetics and Genomics. The five categories are: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. The ACMG is drafting what will be the fourth iteration of guidelines for the general variant classification framework. These new guidelines will incorporate a number of recent advances including a mathematical framework, incorporating objective, quantitative assessments of evidence, and the subdividing of the VUS category.
About the speaker
Dr. Biesecker is a clinical and molecular geneticist and Director of the Centre for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health in the US. He uses genetic and genomic technologies to study the etiology of inherited disorders. His laboratory has elucidated the etiology and natural history of numerous diseases. He developed the ClinSeq® program, co-directs a clinically certified molecular diagnostic laboratory within NHGRI, is a past president of the American Society of Human Genetics, and was elected to the National Academy of Medicine.
About DNA dialogue
With the wealth of genomic expertise internationally, this seminar series is a forum for members of the genomics community in Australia and beyond to learn of new developments in health genomics, and the overseas experience.
The topics are diverse, including data sharing, ethics, carrier screening, cancer genomics, genomics in emerging health systems, and more.
DNA dialogue seminars are held live via zoom and registration is open to anyone working in, or impacted by, medical genomics. You can register for this event here and we encourage you to spread the word about this series.
Register for the entire series of DNA dialogue here.
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