The Genetics Podcast

EP 123: The ethics of newborn genome screening: Actionable insights and beyond with Holly Peay, Senior Research Scientist at the Research Triangle Institute

0:00 Introduction

0:50 Holly’s background and career so far

03:30 Complex decision-making and multiple risk factors: Family history, genetics, phenotypes and beyond

07:05 Changes within the last decade to help people make complex, sometimes subjective, healthcare decisions

09:20 Impact on people: The RTI’s mission and the Early Check Study

13:45 Newborn genomic sequencing and the ability to screen for 1000s of conditions with a single dry blood spot

15:40 The ethical translation of new technologies and their integration into complex decision-making

17:00 How parents decide if genomic testing is right for their child

20:46 The factors that play into parents choosing lighter levels of testing rather than more in-depth options

23:25 Actionable insights: Choosing type-1 diabetes as a single newborn genetic screening panel

25:25 The percentage of families that receive an actionable result from the genomic testing process

28:30 Linking screening programmes with clinical trials: How to approach adding new genes to screening panels as research evolves

30:55 The ethical challenges around providing families with opportunities to support clinical trials

33:32 The types of genes included in Early Check’s different newborn screening panels and how they were categorised

36:18 Addressing incomplete genetic penetrance and the non-binary nature of genetic conditions

39:41 Fragile-X: Pre-mutation information and the ethical importance of second consent

41:28 The limitations of using a single blood spot sample and the potential solutions

44:29 Closing remarks

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