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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.