Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening

BACKGROUND: Genomic sequencing technologies have made the possibility of population screening for whole panels of genetic disorders more feasible than ever before. As one of the most common single gene disorders affecting the UK population, hemophilia is an attractive candidate to include on such screening panels. However, very little is known about views toward genetic screening amongst people with hemophilia or their family members, despite the potential for a wide range of impacts on them. METHODS: Twenty‐two in‐depth qualitative interviews were undertaken to explore the views of adults with hemophilia and their family members, recruited through the Haemophilia Society UK. These interviews were used to develop a survey, the Haemophilia Screening Survey (UK), which was distributed in paper and online format through the support group, receiving 327 returns between January and June 2018. RESULTS: Fifty‐seven per cent of the sample supported preconception carrier screening of the population for hemophilia, and 59% supported prenatal carrier screening. Key reasons for support included a desire to reduce pregnancy terminations and increase awareness of hemophilia. Despite support for screening however, 90% of the sample disagreed with pregnancy terminations for hemophilia. CONCLUSIONS: Families and adults living with hemophilia are more supportive of screening for information and preparation purposes than to prevent boys with hemophilia from being born. A distinction was made between preventing the disease and preventing the lives of people with it, with support shown for the use of screening to achieve the former, but not at the expense of the latter.