Cohort 3

Ellie Davies

  • Genetic Counsellor
  • Addenbrooke's Hospital
  • 2022

In my 12 months as a Topol Digital Fellow I will develop an online family history collation tool to improve access to genomic testing and personalised risk assessment.

Online family history tool to improve genomic history taking

My Topol fellowship problem / project:

Developing a patient-focused online family and medical history collation platform to improve access to personalised genetic testing and risk advice.

Recording medical and family history is essential to allowing clinicians to identify potentially inherited conditions and at-risk family members who may benefit from screening and genetic testing. It is also a valuable method to explore a person’s understanding of the condition in their family, the inheritance pattern, family relationships and to emphasise the need to discuss a diagnosis with relatives.

My project aims to implement a web- based platform, to obtain personal health and family history information from patients. This will ultimately streamline and standardize the process of medical and family history data collection. It will hopefully increase patient engagement and promote equal access to beneficial genetic risk information. It will also allow for patients to be assessed and seen more rapidly, with more clinician time available to provide counsel and care for people at increased risk of hereditary conditions.

I am a Registered Genetic Counsellor working in Cambridge University Hospitals NHS Foundation Trust. I work with patients and their families with inherited conditions across the East Anglian region. I have particular experience with families in the general, cancer and prenatal setting. I am also involved in training non- Genetics healthcare professionals to improve genomic literacy and coordinate the roll-out of “mainstream” genetic testing.

I have a particular interest in utilising digital technology  to  safely  and firmly establish Genomics within mainstream medicine and increase patient access  to  potentially beneficial risk information.