0:00 Introduction0:50 Holly’s background and career so far03:30 Complex decision-making and multiple risk factors: Family history, genetics, phenotypes and beyond07:05 Changes within the last decade to help people make complex, sometimes subjective, healthcare decisions09:20 Impact on people: The RTI’s mission and the Early Check Study13:45 Newborn genomic sequencing and the ability to screen for 1000s of conditions with a single dry blood spot15:40 The ethical translation of new technologies and their integration into complex decision-making17:00 How parents decide if genomic testing is right for their child20:46 The factors that play into parents choosing lighter levels of testing rather than more in-depth options23:25 Actionable insights: Choosing type-1 diabetes as a single newborn genetic screening panel25:25 The percentage of families that receive an actionable result from the genomic testing process28:30 Linking screening programmes with clinical trials: How to approach adding new genes to screening panels as research evolves30:55 The ethical challenges around providing families with opportunities to support clinical trials33:32 The types of genes included in Early Check’s different newborn screening panels and how they were categorised36:18 Addressing incomplete genetic penetrance and the non-binary nature of genetic conditions39:41 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 solutions44:29 Closing remarksPlease consider rating and reviewing) us on your chosen podcast listening platform!
