Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era.

BACKGROUND: England is the only country in the world that currently has universal population screening for haemoglobin disorders through linked antenatal and newborn screening. Little is known about the acceptability of such screening. AIM: To explore parents' experiences of, and attitudes towards, new universal genetic screening for haemoglobin disorders. DESIGN OF STUDY: Narrative interview study. SETTING: Primary and community care settings across England. METHOD: Narrative interviews were undertaken with a maximum variation sample of 39 people who had experienced gene-carrier identification through antenatal and newborn screening for sickle cell, thalassaemia, and other haemoglobin variants within the previous 2 years. RESULTS: Most parents were unaware screening had occurred or had given it little consideration and so were surprised or shocked by results. However, they were glad to learn of their carrier status, reproductive genetic risk, or their newborn's carrier status. Participants emphasised that antenatal screening should happen as early as possible. Many would rather have known their carrier status before pregnancy or before entering a relationship. Although most were satisfied with the information they received, significant misunderstandings remained. There were culturally diverse attitudes towards prenatal diagnosis and termination. These procedures were acceptable to some parents with strong religious beliefs, including Christians and Muslims. CONCLUSION: Parents support screening for haemoglobin disorders but need to be better informed and better prepared for results and what they mean. Sensitivity to patient diversity in attitudes and choices is also required. Universal screening for genetic reproductive risk will increasingly involve generalists, particularly in primary care, presenting opportunities for screening before or earlier in pregnancy, which is likely to be welcomed by patients.