
In conversation with Professor Mark Kilby
05/03/23 • 45 min
Welcome to the fifth and final episode of this first season of Conversations in Fetal Medicine, where we talk to Professor Mark Kilby.
In his present role, Professor Kilby works within the Medical Genomics Research Group within Illumina with members both within Cambridge and San Diego. The Group Leader is Dr David Bentley, Vice President and Chief Scientific Officer, who was one of the principal researchers involved in using next generation sequencing to unlock information of the human genome and then to apply this to the 100,000 genome project in the UK.
Prof Kilby's role, is to work with many of these clinical scientists, who are experts in sequencing technology and applying whole genome sequencing in medicine but also working on the evaluation and understanding of the information obtained from these technologies by bioinformatic assessment, sorting and classification. His principle area of work within this group is focusing upon the roles of whole genome sequencing in prenatal diagnosis (including carrier status analysis) and also newborn screening.
In addition to his role within Illumina, he still works as a Clinical Consultant at Birmingham Women’s and Children’s Foundation trust (for 2 sessions a month) and continues research within the University of Birmingham, as an Emeritus Professor.
He is Chair of the RCOG Genomics Taskforce and works with other Royal Colleges, as well as NHS England and Genomics England.
We have not included any patient identifiable information, and this podcast is intended for professional education rather than patient information. Please get in touch with feedback or suggestions for future guests or topics: [email protected].
Music by Crowander ('Acoustic romance') used under creative commons licence. Podcast created, hosted and edited by Dr Jane Currie.
Welcome to the fifth and final episode of this first season of Conversations in Fetal Medicine, where we talk to Professor Mark Kilby.
In his present role, Professor Kilby works within the Medical Genomics Research Group within Illumina with members both within Cambridge and San Diego. The Group Leader is Dr David Bentley, Vice President and Chief Scientific Officer, who was one of the principal researchers involved in using next generation sequencing to unlock information of the human genome and then to apply this to the 100,000 genome project in the UK.
Prof Kilby's role, is to work with many of these clinical scientists, who are experts in sequencing technology and applying whole genome sequencing in medicine but also working on the evaluation and understanding of the information obtained from these technologies by bioinformatic assessment, sorting and classification. His principle area of work within this group is focusing upon the roles of whole genome sequencing in prenatal diagnosis (including carrier status analysis) and also newborn screening.
In addition to his role within Illumina, he still works as a Clinical Consultant at Birmingham Women’s and Children’s Foundation trust (for 2 sessions a month) and continues research within the University of Birmingham, as an Emeritus Professor.
He is Chair of the RCOG Genomics Taskforce and works with other Royal Colleges, as well as NHS England and Genomics England.
We have not included any patient identifiable information, and this podcast is intended for professional education rather than patient information. Please get in touch with feedback or suggestions for future guests or topics: [email protected].
Music by Crowander ('Acoustic romance') used under creative commons licence. Podcast created, hosted and edited by Dr Jane Currie.
Previous Episode

In conversation with Jane Fisher
Welcome to the fourth episode of season one of Conversations in Fetal Medicine. In this episode we talk to Jane Fisher, Director of the charity Antenatal Results and Choices (ARC). We talk about the history of ARC, what ARC does now, and her role within it. We talk about research, media work and some of the challenges the charity faces. We also discuss training of staff within ARC, as well as training for healthcare professionals, among many other topics.
Further information about ARC: https://www.arc-uk.org/
ARC training for healthcare professionals: https://www.arc-uk.org/for-healthcare-professionals/training-and-events/
Short bio: https://www.gov.uk/government/people/jane-fisher#biography
We have not included any patient identifiable information, and this podcast is intended for professional education rather than patient information. Please get in touch with feedback or suggestions for future guests or topics: [email protected].
Music by Crowander ('Acoustic romance') used under creative commons licence. Podcast created, hosted and edited by Dr Jane Currie.
Next Episode

In conversation with Professor Sally Collins
Welcome to the first episode of the second season of Conversations in Fetal Medicine, where we talk to Professor Sally Collins.
Sally is a Consultant Obstetrician subspecializing in Feto-Maternal Medicine
at the John Radcliffe Hospital and a Professor of Obstetrics in the Nuffield
Department of Women’s and Reproductive Health, University of Oxford.
Sally graduated in Medicine from the University of Oxford and specialized in
Obstetrics and Gynaecology, training within the Oxford region during which
time she completed a DPhil in Obstetric Ultrasound. Sally is currently a
Consultant Obstetrician in a busy NHS Trust and has set up the Oxford FMU
tertiary referral Placenta Clinic.
She is highly research active having authored over 150 journal articles, filed
three patents and won several international research awards. She currently
holds several grants including from the NIHR and Sir Jules Thorn Trust to
develop a fully automated first trimester ultrasound screening tool for fetal
growth restriction.
Sally is also world renowned for her expertise in placenta accreta spectrum
(PAS) and is currently working with NHS England to develop a national
network for the diagnosis and management of PAS having co-authored the
RCOG and FIGO guidelines on diagnosis and management of PAS. She is
Chairperson elect of the International Society for PAS and is the lead author
on their recent evidence-based guidelines. She is a founder member of the
Oxford Placenta Accreta team (https://www.placentaaccretasspectrum.com/)
and continues to strive to improve the outcomes for women affected by this
rare, but complex and potentially lethal condition.
Websites with further details about her work and research:
https://www.wrh.ox.ac.uk/team/sally-collins
Her Wikipedia page:
https://en.wikipedia.org/wiki/Sally_Collins
The (fabulous) PAS website we discuss in the episode: https://www.placentaaccretasspectrum.com/
We have not included any patient identifiable information, and this podcast is intended for professional education rather than patient information (although anyone is of course welcome to listen). Please get in touch with feedback or suggestions for future guests or topics: [email protected], or via Twitter (X) or Instagram via @fetalmedcast.
Music by Crowander ('Acoustic romance') used under creative commons licence. Podcast created, hosted and edited by Dr Jane Currie.
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