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

Find out more:

• Long-read sequencing study

• Moving beyond monogenic disease paper

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