How can we, humans, look at our relationship to nature differently? In season three of Going Wild, on top of stories about animals, we invite you to journey through the entire ecological web — from the tiniest of life forms to apex predators — alongside the scientists, activists and adventurers who study it. Wildlife biologist and host Dr. Rae Wynn-Grant has been studying wild animals in their natural habitats all over the world for years. Our award-winning podcast takes you inside the hidde ...
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EP 123: The ethics of newborn genome screening: Actionable insights and beyond with Holly Peay, Senior Research Scientist at the Research Triangle Institute
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Manage episode 402336895 series 2631947
Conteúdo fornecido por Sano Genetics. Todo o conteúdo do podcast, incluindo episódios, gráficos e descrições de podcast, é carregado e fornecido diretamente por Sano Genetics ou por seu parceiro de plataforma de podcast. Se você acredita que alguém está usando seu trabalho protegido por direitos autorais sem sua permissão, siga o processo descrito aqui https://pt.player.fm/legal.
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
Please consider rating and reviewing us on your chosen podcast listening platform!
164 episódios
MP3•Home de episódios
Manage episode 402336895 series 2631947
Conteúdo fornecido por Sano Genetics. Todo o conteúdo do podcast, incluindo episódios, gráficos e descrições de podcast, é carregado e fornecido diretamente por Sano Genetics ou por seu parceiro de plataforma de podcast. Se você acredita que alguém está usando seu trabalho protegido por direitos autorais sem sua permissão, siga o processo descrito aqui https://pt.player.fm/legal.
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
Please consider rating and reviewing us on your chosen podcast listening platform!
164 episódios
All episodes
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