Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK

Abstract

Introduction As genomic sequencing become more efficient and cost‐effective, the number of conditions identified through newborn screening globally is set to dramatically increase. Haemophilia is a candidate condition; however, very little is known about the attitudes of the haemophilia community towards screening. Aim This study aimed to outline the perspectives of adults with haemophilia and their families towards newborn screening. Methods A paper and online survey on screening were distributed to every family known to the Haemophilia Society UK. Data collection occurred between January and June 2018. In total, 327 participants completed the survey: 76% were a relative of a person with haemophilia and 24% had haemophilia themselves; 83% were living with haemophilia A and 17% with haemophilia B. Results The vast majority supported newborn screening (77%) and preferred it to other forms of screening (preconception or prenatal). Participants supported newborn screening primarily because they viewed it as a means to facilitate early support and treatment, facilitate informed decisions about future pregnancies and prevent the “diagnostic odyssey.” The 23% who did not support the screen did not associate these particular benefits with newborn screening. Conclusion Haemophilia emerged from this analysis as a condition that the vast majority of participants considered a “liveable” disability and one best suited to newborn screening programmes that could improve support to affected families rather than reduce the birth rate of affected children.

Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study

“…21 In families with haemophilia the vast majority (77%) supported newborn screening predominantly because they considered it a means to facilitate early support and treatment, inform decisions about future pregnancies and prevent the 'diagnostic odyssey' and difficulties associated with a later diagnosis. 22 Concerns about the detrimental impact, in terms of bonding and parental stress, that an unsought and serious diagnosis can have on early parent-child relationships have been highlighted in cystic fibrosis 23 24 and spinal muscular atrophy (SMA). 25 Despite the majority (70%) of families and individuals living with SMA being in favour of newborn genetic screening due to delays in diagnosis, those not in favour (whose babies had an extremely curtailed lifespan or a longer period of time before the onset of symptoms) were concerned that newborn genetic screening would prevent families from enjoying carefree time with their baby before symptoms emerged.…”