The Adoption and Outcome of Digital Tools in Clinical Genetics

In the sixth installment of the PhenoTips Speaker Series, digital champion, pioneering researcher, and clinical geneticist Dr. Charles Shaw-Smith discusses the impact of digital tools on clinical genetics as well as his experience and insights championing the adoption of digital tools.


As whole genome/exome sequencing scales with the demand from all areas of medicine, so must Clinical Genetics to accommodate this demand. Digital tools have the potential to accelerate the efficiency of Clinical Genetics, but Geneticists and Genetics Departments face significant barriers to their adoption. To help break down these barriers PhenoTips invited Dr. Charles Shaw Smith to share his insights and experience as a digital champion at his clinical genetics practice.

Dr. Charles Shaw-Smith is a Consultant in Clinical Genetics and Honorary Clinical Fellow at Royal Devon and Exeter NHS Trust. He has completed many research projects published in prestigious journals such as Nature Genetics and the Journal of Medical Genetics. His areas of research include the genetics of Oesophageal Atresia, genetic aetiologies of pancreatic agenesis and neonatal diabetes, and the role and regulation of the HNF1B in man. Dr. Shaw-Smith is an advocate for the elimination of paper from clinical genetics departments, and pens a blog on the subject.

In this discussion with DNA Today’s Founder, Producer and Host, Kira Dineen, CGC, Dr. Charles Shaw-Smith draws on personal experiences to provide insights on:

  • Areas for digitization in clinical genetics
  • The influence of the pandemic on the digitization of clinical genetics
  • The impact of digitization on research
  • Patient access to digital records
  • Digital tools and security

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