Understanding sickle cell carrier status identified through newborn screening: a qualitative study

Abstract

The expansion of newborn screening (NBS) is increasing the generation of incidental results, notably carrier results. Although carrier status is generally understood to be clinically benign, concerns persist that parents may misunderstand its meaning, with deleterious effects on children and their families. Expansion of the NBS panel in Ontario, Canada in 2006 to include sickle cell disorders drew attention to the policy challenge of incidental carrier results. We conducted a study of consumer and provider attitudes to inform policy on disclosure. In this paper, we report the results of (i) qualitative interviews with health-care providers, advocates and parents of carrier infants and (ii) focus groups with new parents and individuals active with the sickle cell community. Lay and provider participants generally believed that carrier results were clinically insignificant. However, some uncertainty persisted among lay consumers in the form of conjecture or doubt. In addition, consumers and advocates who were most informed about the disease articulated insistent yet dissonant claims of clinical significance. Meanwhile, providers referenced research knowledge to offer an equivocal assessment of the possibility and significance of clinically symptomatic carrier status. We conclude that many interpretations of carrier status are in circulation, failing to fit neatly into the categories of 'clinically significant' or 'benign.' This creates challenges for communicating clearly with parents -challenges exacerbated by inconsistent messages from screening programs regarding the significance of sickle cell carrier status. Disclosure policy related to incidentally generated infant carrier results needs to account for these complex realities.

A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status

“…4,9 In line with the considerable debate regarding the 'not so benign' nature of SCT, 7 professionals' views about the clinical severity of SCT sharply contrasted. 6 The lack of consistent and available guidance about how to interpret the severity of the acknowledged health risks of SCT might be the cause of this disagreement. 6 The SC NBS programme in England acknowledges the potential for 'rare health issues' associated with SCT and these, along with precautions to minimise risk, are communicated to parents.…”

“…6 The lack of consistent and available guidance about how to interpret the severity of the acknowledged health risks of SCT might be the cause of this disagreement. 6 The SC NBS programme in England acknowledges the potential for 'rare health issues' associated with SCT and these, along with precautions to minimise risk, are communicated to parents. 8 Awareness of this information within the SC NBS programme carrier leaflet might have prompted professionals to assume that these health risks justify 'clear benefits' of testing for older children.…”

“…To do this might require discussion of whether the acknowledged potential health risks warrant a special case for universal childhood SCT testing or are considered 'free additional' benefits of NBS, which morally justify the provision of results for parents. 7 If it is not thought that early identification of SCT is appropriate, it is important for professionals to understand the reasoning behind these paradoxical messages, 6 to ensure information is accurately communicated to parents. Existing research is not presently able to refute suggestions of psychosocial harms 33 or to provide a true representation of the impact of carrier identification on children's well-being without understanding how factors such as social relationships (eg, family and peer) could influence individual responses to testing.…”

“…2 The argument for postponing testing becomes problematic when there are possible health consequences of a carrier status, 2 for example, in the case of sickle cell trait (SCT), which confers rare possible clinical associations including haematuria, hyposthenuria, and exertional rhabdomyolysis due to hypoxia. 5 However, clinical complications are contentious 6,7 and there is little evidence that the implications require early SCT identification. If professionals do not regard SCT as medically significant, 6 a situation could arise whereby parents are informed that their newborn might experience health difficulties associated with SCT, 8 while concurrently being informed that older children do not require SCT testing on the basis it has no clear medical benefit.…”

“…5 However, clinical complications are contentious 6,7 and there is little evidence that the implications require early SCT identification. If professionals do not regard SCT as medically significant, 6 a situation could arise whereby parents are informed that their newborn might experience health difficulties associated with SCT, 8 while concurrently being informed that older children do not require SCT testing on the basis it has no clear medical benefit.…”