This week on The Genetics Podcast, Patrick is joined by Dr. Danny Miller, Assistant Professor of Pediatrics and of Laboratory Medicine and Pathology at the University of Washington and Attending Physician at Seattle Children's Hospital. They discuss the case for making long-read sequencing the first genetic test every patient receives, the reference dataset his lab is building from the 1000 Genomes Project to resolve structural variants, publicly available methylation signatures as biomarkers for diagnosis and treatment response, and his vision for genome-informed care from newborn screening through the NICU.
Show Notes
0:00 Intro to The Genetics Podcast
01:00 Welcome to Danny
01:41 The case for long-read sequencing as first-line genetic testing
02:52 Current barriers to wider use of long-read sequencing
04:14 Building a long-read reference dataset from 1000 Genomes for variant filtering
06:47 How long-read sequencing can solve a missed diagnosis
08:12 The clinical case for complete telomere-to-telomere genomes
10:39 What it will take to shift the clinical genetics status quo
12:06 Making methylation signatures public to diagnose disease and track therapy
15:58 Danny's path from programming and finance into clinical genetics
18:19 Danny's lived experience with deafness and achondroplasia, and how it shapes his approach to genetic counseling
21:46 Danny's optimism about AI in genomics and worry about AI in education
27:15 The path to making genomes a routine part of the medical record
29:47 The vision of same-day newborn genomic data guiding NICU treatment decisions
34:31 Closing remarks
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