The Genetics Podcast EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska Institute
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
00:59 Welcome to Anna
01:34 Choosing between whole genome, exome, panels, and long-read sequencing in clinical practice
04:05 Evaluating long-read sequencing in the clinic
06:37 What long-read sequencing adds to diagnostic yield
09:15 The role of RNA sequencing, proteomics, and methylation profiling as complementary tools in clinical genomics
13:07 Building a coordinated national infrastructure for clinical genomics and rare disease research in Sweden
18:20 The shift toward precision therapeutics and new standards for clinical actionability
23:18 Using national genomic data and registries to make Sweden trial-ready for precision therapies
27:01 Moving beyond monogenic models to capture polygenic and borderline signals in clinical genomics
30:44 Genomics for prevention including adult screening and pharmacogenomics
36:23 Anna’s research priorities for the next phase of genomic medicine and structural variant discovery
38:32 Closing remarks
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