Eligible studies were from six countries, and incorporated a range of screening offers including targeted panels in founder populations (n = 5), haemoglobinopathies (n = 3), expanded carrier screening (n = 3), 3-gene panel (CF, FXS, SMA) (n = 2), and single gene screening (n = 2). The gene discussed is CFTR; the disease is hemoglobinopathy.