Day One DNA: How and why the UK is betting on whole genome sequencing for every newborn

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25d ago 49:57

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The UK is preparing to change the game for healthcare - but why, how, and what will it cost?

Recently the UK government announced plans to sequence the DNA of every baby born in that country. A part of the country’s 10 Year Health Plan, the program aims to identify rare genetic diseases early, prevent harms from delayed treatment and reduce future healthcare costs for the NHS. Yet along with those potential upsides come a range of ethical and practical questions, too: who guards the sequenced data, who can access it, how can consent be informed, managed and withdrawn years later, and what is the best way to gather the genetic material required to fully sequence the DNA of 700,000 infants each year?

This week, I spoke to Neil Ward of PacBio to understand more about this program, compare it to other national genome sequencing programs in Europe and Asia, and discuss the promise of unlocking the ‘language of life’.

02:02 Meet Neil Ward

09:10 PacBio, its mission, and its current focus

17:13 The UK national newborn gene sequencing effort

21:20 Ethical and practical challenges for national newborn sequencing

24:34 Short-read versus long-read sequencing

30:48 Dried blood spots versus cord blood

35:57 Lessons for the UK from Thailand

38:58 Trends in national newborn screening programs worldwide

41:46 What parents and policymakers must know

45:20 Exciting things in the genomics space on the horizon

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To dive deeper into the topic:

Chapters

1. Day One DNA: How and why the UK is betting on whole genome sequencing for every newborn (00:00:00)

2. Meet Neil Ward (00:02:02)

3. PacBio, its mission, and its current focus (00:09:10)

4. The UK national newborn gene sequencing effort (00:17:13)

5. Ethical and practical challenges for national newborn sequencing (00:21:20)

6. Short-read versus long-read sequencing (00:24:34)

7. Dried blood spots versus cord blood (00:30:48)

8. Lessons for the UK from Thailand (00:35:57)

9. Trends in national newborn screening programs worldwide (00:38:58)

10. What parents and policymakers must know (00:41:46)

11. Exciting things in the genomics space on the horizon (00:45:20)

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