The study, “Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK,” was published in the journal Haemophilia.
Rapid developments that have been taking place in genomic technologies are making it possible to screen newborns for more conditions than ever before.
Hemophilia is a potential candidate for newborn screening, particularly because, for those with hemophilia, the most serious type of bleed, called an intracranial hemorrhage, is most likely to occur during the neonatal period.
Furthermore, half the babies born with hemophilia have no family history of the disorder, so the only way to identify those at risk is to conduct genetic testing.
Identifying babies with hemophilia can also help doctors start early preventive treatment, which has several benefits for infant health.
Although there are clear benefits to newborn screening for hemophilia, the views of families and individuals directly affected by the disorder have not been extensively researched.
To address this, researchers set out to gather data on attitudes toward newborn genetic screening among people living with hemophilia A or B, or those with affected relatives.
They developed a written and online survey and distributed it to every family known to the Haemophilia Society UK. Data collection took place between January and June 2018.
In total, 327 participants completed the survey, 76% of whom were a relative of a person with hemophilia and 24% who had hemophilia themselves; 83% of patients had hemophilia A and 17% had hemophilia B.
Results indicated that the vast majority, 77%, supported newborn screening and preferred it to other forms of screening, either preconception or prenatal.
Participants supported newborn screening primarily because they believed it would facilitate early support and treatment, help make informed decisions about future pregnancies, and prevent the “diagnostic odyssey,” which refers to the long journey patients often go through before they finally get a confirmed diagnosis.
The remaining 23% who did not support the screening generally did not believe it would lead to the advantages described by supporters. However, these participants also did not express any negative beliefs toward the screening.
“Hemophilia emerged from this analysis as a condition that the vast majority of participants considered a ‘livable’ disability and one best suited to newborn screening programs that could improve support to affected families rather than reduce the birth rate of affected children,” the researchers concluded.