Key informant perspectives on the implementation of newborn genomic screening: a qualitative study led by Action, Actor, Context, Objective, Timeframe – European Journal of Human Genetics

Participant characteristics

Interviews were conducted with 20 participants representing eight professional roles, including 18 HCPs and two staff members from patient support organizations (see Fig. 2 ). Of the 18 HCP participants, 10 worked in the public health care system, two worked in the private health care system, and three worked both publicly and privately. Interviews lasted approximately 33 min each (range, 21–48 min).

interview participants (N = 20).

Interview findings

Participants were mostly supportive of the proposed gNBS model. Figure 3 depicts the AACTT findings including an additional gNBS phase (Phase 0, awareness and education) and further actions within phases 1–3. More details are provided below and in Supplementary Table 1.

Implementation of newborn genomic screening summarized using the Action, Actor, Context, Objective, Time framework.

Phase 0-awareness and education

Participants suggested two Actions, ‘raising community awareness’ of gNBS and ‘educating HCPs’, that could be undertaken to support gNBS implementation. Engagement in gNBS was described as both an obstacle and an opportunity for both Actions. For example, some participants explained that public concern over the use and storage of genomic data may limit interest in gNBS.

“There’s some hesitation, even with the standard show of what they do [laboratories] do with their baby’s blood, what is this information for… if you start talking about genomics… there would be some families who would be hesitant about what that would mean.” – Mom 5

Participants were generally positive about the implementation of gNBS and expressed a willingness to embrace the benefits that genomics offers for NBS. However, they did not feel prepared to incorporate it into their practice without first improving it. A number of options for HCP education were suggested, including in-service and online training.

Phase 1 – providing genomic screening of newborns

Participants identified three Actions involved in the ‘Offer’ phase of gNBS: ‘offering gNBS’, ‘providing education’ and ‘obtaining consent’. “Distribute education” was added to the gNBS flowchart as an action following feedback from participants.

Midwives and obstetricians (OBs) were identified as key actors in the provision of gNBS. Some participants suggested that general practitioners (GPs) may also be available to discuss gNBS. However, GP participants disagreed, indicating that they would seek to improve skills in stdNBS and gNBS first.

The relevance of gNBS to prospective parents (Target) was a key consideration for the Timing and Context of the offer. All participants agreed that gNBS should be offered prenatally and that later in pregnancy, when parents begin to prepare for birth, would be more appropriate. Some participants working in obstetrics and midwives were concerned about competing clinical and clinical priorities “time poor” (OB2) would deter some HCPs from discussing gNBS. Minimizing the clinical impacts of Actions involved in providing gNBS (eg, providing education in an online context) was recommended. However, other participants did not feel that the addition of genomics to the NBS offering would have a major impact on practice.

“…it’s not really changing anything we’re doing. It’s not extra work for us… It’s just an extension of something we’re already doing…” – Mom 4

Participants felt they were most likely to offer gNBS as one “add to” (OB1) to stdNBS, but emphasized that consent should be managed separately.

“…you can only talk about consent when it’s important…I knew what [genomic] The examination of newborns is, this is a special part of the knowledge of education.” – Support organization staff member 1

Perspectives on the timing and context of ‘obtaining consent’ varied. Most were in favor of obtaining prenatal consent, but noted that this Action represented one of the most significant changes to stdNBS. Midwives working on postnatal wards were more likely to suggest incorporating gNBS into the existing postnatal consent process, feeling that consent would only be relevant to postnatal parents. Therefore, regardless of time and context, new processes may need to be developed to support consent for gNBS.

“Consent for a genomic screen in that context would need some additional scaffolding. I don’t think it necessarily can’t be involved in the same process, but I think the workforce is going to need some serious support.”– Mom 1

Phase 2 – testing

Two Actions were identified in the ‘testing’ phase of the gNBS: ‘Consent re-affirmation’ and ‘sample collection’. As no additional blood sample will be required to perform gNBS, the participants did not identify any barriers related to the implementation of gNBS in sample collection and agreed that this Action can be performed according to stdNBS processes.

Reminding the parents of NBS is an action usually performed by the midwife at the time of consent and blood spot collection. If consent to gNBS was obtained prenatally, participants suggested that this Action could be adapted to ‘re-affirm consent to gNBS’. Re-affirming consent was described as an essential part of the gNBS program design to ensure that parents have the opportunity to change their mind before blood collection. As described above, obtaining consent prenatally represents a change in practice and some participants noted that this can be a barrier as midwives collecting the blood spot sample (Actors) adjust to this change.

“…the challenge whenever you’re changing different approval processes is… you’ve got somebody who’s already overwhelmed with everything that’s going on in the postpartum ward that day , [so] making it as direct and clear as possible.” – Mom 1

Enablers included Actors that were able “hug” (Mother 3) benefits of gNBS, as well as clear communication with sampling HCPs and access to resources and support.

“…accessible resources and education…every hospital should have a liaison person…a person who if someone is unsure about [gNBS consent] they can go to them and have that maybe a little bit higher level of knowledge.” – Mom 5

Phase 3 – results management

Participants felt that ‘detecting a low-chance outcome’ was a useful addition to the gNBS process. This is standard practice in the genomic health care system, but a change in practice for NBS. The actions required to manage high-probability outcomes were expanded from the original gNBS flowchart. Actions described were ‘detection of a possible high result’, ‘making referrals’, ‘ongoing clinical care’ and ‘genetic counselling’. Genetic counselors (GCs) were identified as key actors at each stage in outcomes management, although participants noted that limited manpower resources may pose a challenge for population-scale gNBS.

Existing processes for disclosing NBS results (eg, a “Cold Call” (GC1)) can be approved for gNBS. GC participants described this action as “Crisis Management”(GC2) and felt they were in a better position to provide this information. Due to concern about parental bonding, some participants felt that results should be revealed at 4-6 weeks of life if the result is not immediately actionable.

“…baby blues is week one to two… coming out of that… especially if it’s big news, holding it in for a lot longer [than 4-6 weeks] it would feel a bit unethical too.” – Pediatrician 2

Participants noted that, unlike conditions already included in the stdNBS, established referral pathways and nurse coordinators may not be available for all conditions included in the gNBS. As such, this co-ordinating action is likely to be the task of the CCs. GCs may also be required to provide education and support to non-genetic HCP stakeholders involved in the ongoing care of infants diagnosed with a condition following gNBS. Lack of genomic knowledge was noted as a barrier to providing ongoing management to patients, particularly among general practitioners.

“There needs to be more support…and many times when they [GPs] come across a syndrome they haven’t encountered, they just go to a pediatrician.” -GP1

Several non-genetic HCPs explained that genetics and genomics had already begun to be integrated into their practice areas. Pediatricians noted that their profession is familiar with the use of other tests, such as microarrays and exome sequencing, which will support the implementation of gNBS.

“…we are taught in our training [about] microarrays… so, then, going into genomics… makes sense.” – Pediatrician 1

Beyond medical management, participants also noted the importance of providing opportunities for families to engage with a patient support organization. Continued funding for patient support organizations would also be needed.

“…making sure that support groups continue to receive funding from the government.” -Staff member of the supporting organization 2

New models of psychosocial care may also need to be developed to support families receiving a diagnosis of a condition without immediate action. GCs explained that the Time and Context of the genetic counseling meeting can vary, depending on the needs of the family. However, GCs did not consider the role of their profession outside “One Session Counseling” The model (GC2) is usually provided in the stdNBS setting. It was other participants (specialists and support organization staff) who suggested that longitudinal genetic counseling might be appropriate.

“We need to create a new paradigm of care that will have to include these [psychosocial] more frequent conversations and finding new ways to support these families and reduce harm.”– Specialist 2