The Rising Tide Podcast

Center for Genomic Interpretation

Improving the accuracy and quality of precision medicine, with a focus on clinical genetics and genomics. read less
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Justin Zook, PhD: A Conversation with the Co-Leader of the Genome In a Bottle Consortium Developing Standards For Benchmarking Genetic Variant Detection
Sep 13 2022
Justin Zook, PhD: A Conversation with the Co-Leader of the Genome In a Bottle Consortium Developing Standards For Benchmarking Genetic Variant Detection
#TheRisingTide Episode 6In this episode of The Rising Tide Podcast, Dr. Justin Zook, Co-Leader, Biomarker and Genomic Sciences Group at the National Institute of Standards and Technology (NIST) sits down with the Center for Genomic Interpretation to discuss the Genome In a Bottle (GIAB) Consortium utilized for benchmark mutation detection.  A detailed discussion on what laboratories, insurance payers or anyone that wants to better understand genetic and genomic testing should listen to this podcast.The telomere-to-telomere (T2T) reference genome and other resources are also reviewed in detail.This interview was initially completed in July 2022.

Episodes

Justin Zook, PhD: A Conversation with the Co-Leader of the Genome In a Bottle Consortium Developing Standards For Benchmarking Genetic Variant Detection
Sep 13 2022
Justin Zook, PhD: A Conversation with the Co-Leader of the Genome In a Bottle Consortium Developing Standards For Benchmarking Genetic Variant Detection
#TheRisingTide Episode 6In this episode of The Rising Tide Podcast, Dr. Justin Zook, Co-Leader, Biomarker and Genomic Sciences Group at the National Institute of Standards and Technology (NIST) sits down with the Center for Genomic Interpretation to discuss the Genome In a Bottle (GIAB) Consortium utilized for benchmark mutation detection.  A detailed discussion on what laboratories, insurance payers or anyone that wants to better understand genetic and genomic testing should listen to this podcast.The telomere-to-telomere (T2T) reference genome and other resources are also reviewed in detail.This interview was initially completed in July 2022.
Dr. Bryan Gall - Variant Interpretation: The Achilles Heel of Clinical Genetics and Genomics
Apr 26 2022
Dr. Bryan Gall - Variant Interpretation: The Achilles Heel of Clinical Genetics and Genomics
#TheRisingTide Episode 5In this episode of The Rising Tide Podcast, Dr. Bryan Gall sits down with the Center for Genomic Interpretation to discuss, among other things, clinical variant interpretation. For example, what might cause two labs to report the same genetic variant differently?Podcast Introduction from 00:00 Interview begins at 08:18 This interview was initially completed in 2021.
Dr. John Pfeifer - In silico Proficiency Testing to Improve Quality & Accuracy in Clinical Genetics and Genomics
Aug 19 2021
Dr. John Pfeifer - In silico Proficiency Testing to Improve Quality & Accuracy in Clinical Genetics and Genomics
In this episode of The Rising Tide Podcast, Dr. John Pfeifer of Washington University School of Medicine in St. Louis sits down with the Center for Genomic Interpretation to discuss, among other things, in silico proficiency testing to improve quality and accuracy in clinical genetics and genomics
Dr. Madhuri Hegde - Variant Classification in Clinical Genetics & Genomics: Opportunities & Obstacles
Jul 2 2021
Dr. Madhuri Hegde - Variant Classification in Clinical Genetics & Genomics: Opportunities & Obstacles
In the third episode of The Rising Tide Podcast, Dr. Madhuri Hegde, Perkin-Elmer’s Chief Scientific Officer, and co-author on the 2015 "Standards and Guidelines for the Interpretation of Sequence Variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics, and the Association for Molecular Pathology," sits down with the Center for Genomic Interpretation to discuss past and future guidelines and considerations for variant classification.
Dr. Ali Khaki -Loose Regulatory Standards Portend a New Era of Imprecision Oncology- Part 2/2
Jul 2 2021
Dr. Ali Khaki -Loose Regulatory Standards Portend a New Era of Imprecision Oncology- Part 2/2
In the second episode of The Rising Tide Podcast, Dr. Ali Khaki of Stanford University sits down with the Center for Genomic Interpretation again to discuss the promises and pitfalls of precision medicine, potential consequences when FDA approvals extend beyond populations of patients and clinical trials, how to improve selection of patients for therapy, and concepts that all stakeholders should consider for these complex topics. This particular episode is geared toward anyone seeking detailed, in-depth perspectives about oncology precision therapies.
Dr. Ali Khaki -Loose Regulatory Standards Portend a New Era of Imprecision Oncology- Part 1/2
Jul 2 2021
Dr. Ali Khaki -Loose Regulatory Standards Portend a New Era of Imprecision Oncology- Part 1/2
In this first episode of The Rising Tide Podcast, Dr. Ali Khaki of Stanford University sits down with the Center for Genomic Interpretation to discuss FDA approvals in precision medicine and cancer that miss the mark, what the consequences are for such approvals, and paths forward that could drive improvements in quality and accuracy of precision medicine and, ultimately, patient care.