MM09: Modernizing Guidance for Clinical Sequencing: Human Genetic and Genomic Testing Using Traditional and High-Throughput Nucleic Acid Sequencing Methods
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At the conclusion of this webinar, you will:
- Understand the next-generation sequencing (NGS) test development lifecycle
- Learn the value of step-by-step guidance provided by instructional worksheets
- Understand the differences between the previous and revised MM09 versions
- Recognize evolving (up and coming) NGS sequencing applications (ie, Human Leukocyte Antigen (HLA), RNA (RNA Seq), noninvasive prenatal testing (NIPT), and liquid biopsy)
Birgit Funke, PhD, FACMG
Dr. Funke received her PhD from the University of Würzburg, Germany and trained as a postdoctoral fellow at the Albert Einstein College of Medicine where she identified the gene for 22q11 deletion syndrome. She is Board certified in Clinical Molecular Genetics, served as Associate Professor of Pathology at Harvard Medical School where she was among the first worldwide to implement clinical NGS in 2011 at the Laboratory for Molecular Medicine in Cambridge. From 2017 to 2023, Dr. Funke has served in several leadership roles in commercial genetic testing laboratories where she focused on implementing and scaling testing for hereditary cancer, cardiovascular disease as well as proactive genomic applications.
Academically, Dr. Funke is known for her work on the genetic landscape of inherited cardiomyopathies, leading international efforts to develop professional guidelines for clinical genomic knowledge curation, as well as development of cutting edge clinical genomic tests. Her long-term goal is to help increase the use of genomic testing in clinical care, especially for disease prevention.