Table 2

Different approaches for presymptomatic testing used in Wales

Approach Total Normal/abnormal molecular result
(1) Two stage approach
  A  Blood taken at second genetic counselling session77/–
  B  Offer of a two step approach, rejected by the person at risk21/1
(2) Intermediate approach
  A  Blood taken by family doctor or genetic nurse specialist at interval after first genetic counselling session33/–
  B  Blood taken at first genetic counselling session, stored until confirmation to proceed from patient.55/–
(3) One stage approach
  A Blood taken at first genetic counselling session4635/11
  B  Blood taken by the genetic nurse specialist at home, genetic counselling clinic session only in case of an abnormal result95/4