EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska

This week on The Genetics Podcast, Patrick is joined by Dr. Anna Lindstrand, Professor and Consultant in Clinical Genetics and Genomics at the Karolinska Institute. They discuss how Sweden has scaled whole genome sequencing as a first-line test for rare disease, what long-read sequencing adds to clinical diagnostics, how national genomic infrastructure can accelerate translation into precision medicine, and where prevention and adult genomic screening may fit into the future of healthcare. Show Notes: 0:00 Intro to The Genetics Podcast 01:00 Welcome to Anna 01:34 Choosing between whole genome, exome, panels, and long-read sequencing in clinical practice 04:21 Evaluating long-read sequencing in the clinic 07:02 What long-read sequencing adds to diagnostic yield 09:58 The role of RNA sequencing, proteomics, and methylation profiling as complementary tools in clinical genomics 14:00 Building a coordinated national infrastructure for clinical genomics and rare disease research in Sweden 19:27 The shift toward precision therapeutics and new standards for clinical actionability 24:46 Using national genomic data and registries to make Sweden trial-ready for precision therapies 28:44 Moving beyond monogenic models to capture polygenic and borderline signals in clinical genomics 32:47 Genomics for prevention including adult screening and pharmacogenomics 38:44 Research priorities for the next phase of genomic medicine and structural variant discovery 41:12 Closing remarks Find out more: Long-read sequencing study (https://link.springer.com/article/10....) Moving beyond monogenic disease paper (https://www.nature.com/articles/s4158...) Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_...