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.
- 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?
- 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
Tooting London UK SW17 0RE
Prof Hoa Nguyen
Associated EHDN Coordinator:
Jolie Lewis, EHDN Language Area Coordinator, U. K.