The aim is to build a co-ordinated response across the Network.


To liaise with relevant working groups and experts taking into consideration of existing guidance across the network.


Main goals

  1. Should we have a policy for feeding back (or not) of incidental findings from Exome/Whole Genome research analysis through REGISTRY/ENROLL and other HD genetic studies?
    • Do Consents for studies need to change?
    • What would the mechanism for feeding back be?
    • What results should be fed back?
  2. How are we going to deal with the emerging genetic modifier information from studies like GemGWAS.
    • Do the predictive testing recommendations need to change to reflect this information?
    • Should HD genetic testing be followed up with genetic modifier studies to give patients better information regarding age of onset?
    • If not now – how will we prepare for and evaluate when this may become clinically actionable?


Dr Nayana Lahiri
Consultant clinical Genticist & Honorary Senior Lecturer
St. George’s University Hospitals NHS Foundation Trust
Blackshaw Road
Tooting London UK SW17 0RE

Prof Hoa Nguyen
Bochum, Germany

Associated EHDN Coordinator:

Jolie Lewis, EHDN Language Area Coordinator, U. K.