Summary:

This week on The Genetics Podcast, recorded live at ASHG 2025, Patrick is joined by Heidi Rehm, Chief Genomics Officer at MGH’s Center for Genomic Medicine and Co-director at the Broad Institute, and Slavé Petrovski, Vice President of AstraZeneca's Centre for Genomics Research. They discuss the rapid progress of large-scale genomics, the barriers to integrating genetic data into healthcare and drug development, and how open collaboration, global data sharing, and a focus on equity are driving more inclusive and impactful genomic discovery.

Show Notes:

0:00 Intro to The Genetics Podcast

00:59 Welcome to Heidi and Slavé

02:01 Slavé’s role at AstraZeneca and work in genomics-driven R&D

03:24 Heidi’s work at the Broad Institute bridging clinical genomics, rare disease research, and global data-sharing initiatives

04:12 Heidi on breaking a Guinness world record for rapid neonatal ICU (NICU) genomics and the shift to open data sharing

06:32 Slavé on how large-scale, multimodal human data is transforming genomics research

08:10 Heidi’s initiatives to integrate genomics into routine care at hospitals and with primary care physicians

11:47 Integrating genomics into clinical trials and healthcare, and enabling global discovery through AstraZeneca’s open data portal

15:34 Breaking down legal and logistical barriers to genomic data sharing and centering the patient voice

18:40 AstraZeneca’s large-scale plasma proteome study and machine learning models predicting disease onset years before diagnosis

21:44 Emerging omics tools advancing rare disease diagnosis

24:19 The value and pitfalls of AI in genomics today

28:54 Advancing health equity in genomics through data sharing, diverse recruitment, and global collaboration

33:40 Progress and challenges in next-generation genetic therapies

37:15 Reflections and advice for the next generation entering genomics and data-driven medicine

40:44 Audience Q&A

51:44 Closing remarks

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