In her commentary to our article,1 Lainie Friedman Ross offers three main criticisms of our work. First, she suggests that the health care providers (HCPs) in our study may not have been arguing that the generation of reproductive risk information is a primary benefit of newborn screening (NBS). Second, she reviews evidence on the reproductive behaviors of parents who are provided with infant carrier information through NBS to suggest a disconnect between parental preferences and the goals of HCPs. Finally, she suggests that the distinctive features of sickle cell trait (SCT) complicate our discussion of reproductive benefits, limiting the clarity and generalizability of our findings.2 We welcome the opportunity to respond.

The main goal of our article was to suggest that providers do indeed perceive the incidental generation of reproductive risk information through NBS as one of its primary benefits. This assertion derives from their dominant rationale that identification of reproductive risk through NBS is an inherent – inextricably linked – consequence of NBS and, in turn, the disclosure of reproductive risk information facilitates disease prevention, one of the main goals of NBS.1 Dr Ross refers to this assertion as a ‘free’ benefit – hence, ancillary – but indeed HCPs conceived it as primary. As one of our HCP participants put it:

Identifying somebody who actually has a disease to me is probably even less important than actually trying to prevent the disease… preventing disease and providing information for the patients who do develop disease is a very important part of this. That may not be the original purpose or what the original purpose of newborn screening but again newborn screening was set up around PKU (phenylketonuria) and hypothyroidism so…1

That HCPs were expressing this viewpoint can also be inferred from our survey data, as there was less support for screening for the purpose of clinical benefit (55–56% agree or strongly agree to NBS enabling presymptomatic diagnosis for treatment, or in the absence of treatment) compared with screening for the purpose of reproductive benefit (68–78% agree or strongly agree to identifying the infant's carrier status and parent's reproductive risks).1 Providers' views that reproductive benefit serves a primary role in NBS appear to align with the arguments of some commentators, who have called for an expanded valuation of what have traditionally been viewed as the secondary benefits of NBS.3, 4, 5, 6, 7 However, as we suggested in our article, these views are misaligned with the principles that provide warrant for population screening,8, 9, 10 and with ethical and policy norms guiding the realization of reproductive benefit in other population screening contexts.7, 11 As such, and here we agree wholeheartedly with Dr Ross, they are cause for some concern.

Dr Ross reviews largely epidemiological evidence on disease incidence associated with the receipt of infant carrier information through NBS to point to the limited use of this ‘reproductive benefit’, and to suggest a disconnect between parental preferences and the goals of HCPs that we identify. Yet behavior is not synonymous with preferences, as evidenced by a substantial literature demonstrating the disconnect between genetic testing intentions and actual uptake.12, 13, 14 The literature about parental attitudes regarding infant carrier information through NBS points to a similar disconnect as, notwithstanding epidemiological evidence regarding behavior, most parents state that they feel better knowing their child's carrier status,15, 16 and want this information to know their own and their family members' reproductive risks.17 This literature thus suggests that parental ‘preferences’ are at least somewhat aligned with those of HCPs. (Of course, whether parents view this as a primary benefit is not explored in existing studies.)

Finally, Dr Ross suggests that the distinctive features of SCT complicate our discussion of reproductive benefits. Dr Ross questions whether HCPs' support for the identification of SCT stemmed from its ‘not so benign’ nature. The policy implications of the potential clinical significance of SCT have been previously debated publicly.18, 19 Further, as our earlier article20 on the complex and sometimes dissonant interpretations of SCT pointed out, the guidance provided to families and providers by NBS programs in the United States and United Kingdom are contradictory. Indeed, what any health implications mean or should mean for NBS policy is unclear. Thus, the goal in our current article is not to rehash these complex issues but to focus on the one issue raised by SCT that is unquestioned – its relevance to reproductive risk. We are confident that, in our qualitative interviews, the issue of reproductive benefit was discussed independently of the potential health significance of sickle cell disorder (SCD) carrier status. Dr Ross ends with a call for fuller engagement with the communities who are disproportionately affected by SCD (and SCT), to assess whether this reproductive ‘benefit’ is of real or only hypothetical interest. Yet as we have noted above, practices and preferences are often unrelated. Indeed, our argument was not that these are (or should be) tangible and realizable benefits, but rather, that HCPs perceive them as such. This is, in our view, a notable finding: one that warrants careful consideration given its potential implications for screening practice and policy.

We would thus agree that our study identifies a need for engagement with HCPs about ‘the ethically justifiable public health goals of a universal NBS program’. Yet, given the increasing alignment between HCPs' views, parental preferences and some policy statements in this domain, we suggest broader engagement with all relevant communities, including lay/citizens, parents, HCPs and decision makers, to ensure that the goals and directions of NBS programs strike an appropriate balance between benefits to screened individuals and those to families and societies, in the context of public health programs.