Studies

Question 1

What is the aim of the DDD project

Answer 1

Deciphering developmental disorders. The aim of the DDD study is to advance clinical genetic practice for children with developmental disorders by the systematic application of the latest microarray and sequencing methods while addressing the new ethical challenges raised.

Question 2

What IFs are currently reported back to 100Kg participants (if they don’t opt out)

Answer 2

BRCA1/2 (adults only),
MLH1,MSH2, MSH6,MUTYH (adults only), APC (adult and child)
VHL, MEN1, RET (adult and child)
LDLR1, APOB, PCKS9 (adult and child)

Question 3

What is policy on feeding back carrier status in 100KG study

Answer 3

Only if participant consents to (can opt out). Recessive - only if both partners participating and both consent. Current list: cf only