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

Aims

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

Projects

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?

 

 

last update 4 February 2025