Introduction

Rapid genomic sequencing (rGS) has been shown to have significant diagnostic and clinical utility, particularly in the Neonatal Intensive Care Unit (NICU), where genetic conditions frequently present [1,2,3,4]. The use of rGS in the NICU allows for earlier genetic diagnoses, individualized treatment plans, and potential for overall improved outcomes [5,6,7]. Despite its utility, rGS is primarily available in hospitals with robust genetics expertise and resources to facilitate test ordering, interpret results, and disclose findings to families [8,9,10]. This creates a health equity gap in which infants cared for in many safety-net NICU settings, disproportionately serving low-income and racially/ethnically minoritized families, lack access to or face significant logistical or financial obstacles to obtaining rGS or other genetic testing [11,12,13]. Prior work has demonstrated that neonatologists in safety-net settings face multiple barriers to facilitating rGS beyond cost, including limited training in genomic medicine and insufficient time to learn about result interpretation [14, 15].

To understand and begin combating these challenges, we launched the VIrtual GenOme CenteR for Infant Health (VIGOR) study, an innovative virtual delivery model for genomic care in safety-net NICUs hosted by Boston Children’s Hospital (BCH) in October 2022 [16]. Through partnerships with safety-net NICUs without routine access to rGS and variable availability of genetics expertise, infants with suspected genetic conditions are enrolled in the study and receive rGS at no cost to the site. Local neonatologists then disclose rGS results to families with virtual support from the BCH VIGOR team and any other local providers they may choose to invite. We chose this model since many safety-net NICUs do not have readily available genetics experts but nearly always have neonatologists. Neonatologists at VIGOR study sites are provided basic genomics education, a customized Clinical Interpretive Report (CIR) for each enrolled infant that provides additional interpretation of rGS results and recommendations, and virtual genomics expertise with the goal of improving safety-net neonatologists’ comfort and confidence disclosing results [17]. We sought to assess how well the virtual support model worked and how satisfied neonatologists were by exploring their perspectives on disclosing rGS results. Using a mixed methods approach, we sought to examine neonatologists’ perceived (1) barriers and facilitators to disclosing rGS results; (2) role in disclosing rGS results; and (3) overall satisfaction with the VIGOR CIR and other resources.

Methods

We conducted this study using a convergent parallel mixed-methods approach in which quantitative and qualitative data were collected and analyzed simultaneously within one phase of the investigation [18].

Population and study design

The overall VIGOR study design and protocol have been previously described [16]. In brief, the VIGOR network consists of a central team at BCH and infants, caregivers, and neonatologists from 10 participating safety-net NICUs in the northeast and southern regions of the US. Participating NICUs are level 3 or 4, care for infants with >40% non-Hispanic Black and/or Hispanic-identifying mothers, and have a minimum of 20 beds and 200 annual admissions. Neonatologists are required to watch a study orientation module and are provided with publicly available educational modules created by the BCH VIGOR team addressing how to recognize infants who may have genetic disorders, genetic testing in the NICU, and interpretation and disclosure of results (https://www.virtualgenomecenter.org/education). A participating neonatologist identifies and approaches eligible infants and families and subsequently refers interested families to the BCH VIGOR team, who conducts virtual consent. A Clinical Laboratory Improvement Amendment (CLIA) certified vendor performs clinical rGS, and a test report is issued within 14 days of test activation. The multidisciplinary VIGOR team creates a customized CIR within 3 business days with additional interpretive and management guidance [17]. The process of CIR development has been described in detail elsewhere [17]. The local neonatologist, at minimum, discloses initial results and may include other clinician support (e.g. clinical geneticist, nurse, social worker) during the disclosure as available or desired. A BCH study team member is also present during the disclosure and takes notes, including the duration and modality of the meeting.

Quantitative analysis

Survey procedures

Short post-disclosure electronic surveys (estimated duration ~5–10 min) were sent via email to disclosing neonatologists within 24 hours of each disclosure, with additional reminders sent weekly for up to four weeks. Neonatologists received a $20 Amazon gift card for completion of each survey. Survey questions inquired about providers’ perception of the disclosure meeting, including the length of time, amount of information presented, comfort with and complexity of results, next steps in management, the utility of the VIGOR CIR, and other utilized resources.

Analysis

Survey results were analyzed descriptively with regard to each disclosure instance. We compared disclosures based on the type of result disclosed (positive [finding that definitively explained the infant’s clinical presentation], negative [no reportable findings], VUS [Variants of Uncertain Significance]/other [i.e., carrier status, secondary findings]) using chi-square testing. Analysis was performed using R version 2024.12.0 + 467 and Excel version 16.91.

Qualitative analysis

Sampling strategy

Neonatologists were eligible to participate in an in-depth interview once they had completed at least two disclosures during the VIGOR study period. We sought to interview providers who had disclosed a variety of result types (positive, negative, VUS/other) across our 10 participating NICUs in Massachusetts, Florida, Texas, Alabama, and New Jersey and who had varied years of experience to garner varied perspectives.

Interview guide and procedures

We used the “capability, opportunity, and motivation are capable of changing behavior” (COM-B) framework that has been used to understand the behaviors of clinicians in healthcare to inform our interview guide and coding approach [19]. This framework posits that capability, opportunity, and motivation are three key factors capable of changing behavior. Capability refers to an individual’s ability to engage in a behavior, opportunity relates to the external factors influencing the possible execution of a behavior, and motivation refers to the internal processes that impact behavior and decision-making [19]. Probe questions focused on neonatologists’ experience in disclosing results, including their comfort and perceived role, and satisfaction with the VIGOR team support. The in-depth interviews lasted 30–60 min over Zoom by investigators or research assistants trained in qualitative interviewing (MP, AMD, MW). Interviews were recorded and transcribed verbatim. Neonatologists received a $50 Amazon gift card for participation.

Analysis

We analyzed interviews using an iterative deductive qualitative approach with the COM-B framework [19]. Three team members independently reviewed transcripts to develop a preliminary codebook. The group met to review and revise the coding scheme before reviewing and coding transcripts independently and meeting to ensure uniformity. Upon completion of coding, the group met and iteratively analyzed data to refine the interview guide and develop themes. Further data collection and analysis were performed iteratively until thematic saturation was reached. In addition to investigator triangulation, we used member checking to confirm the reliability of data [20].

Results

Quantitative

Fifty-two unique neonatologists completed 155 of the 183 post-disclosure surveys sent (85%), including at least one neonatologist from each participating NICU site. Twenty-three percent of surveys were regarding positive results, 42% negative, and 35% VUS/Other. Overall, 39% of disclosures were in-person and 27% were by Zoom or other video conferencing applications (Table 1). In 58% of disclosures, a genetics expert (clinical geneticist or genetic counselor) from the local institution was present during the meeting (Table 1). Ninety-seven percent of neonatologists felt that the amount of information presented to the participant was “just right”. In discussing results and next steps in management, 63% felt “very comfortable” and 30% felt “somewhat comfortable” (Table 2). There was no significant difference in neonatologists’ comfort based on result type (p = 0.08) or presence of a genetics expert at the disclosure (p = 0.27) (Supplemental Table 1). Ninety-eight percent of disclosure instances with negative results were felt to be “relatively straightforward” compared to 51% of instances with positive results and 60% of instances with VUS/Other results (p < 0.001; Table 2).

Table 1 Disclosure characteristics.
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Table 2 Neonatologists’ perception of disclosure of genomic results.
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When we asked about the use of resources to prepare prior to the disclosure meeting, neonatologists reported using a variety of resources, including consultations with genetics experts from both their local institutions and the VIGOR team, online resources (e.g., Google search, literature search, UpToDate), and the CIR created as part of the VIGOR study (Table 3). The most widely used resource was the CIR, which was used by neonatologists in 94% of disclosures, where 82% reported it to be “very helpful” [17]. Consultation with a genetics provider varied by disclosure type, with 61% reporting using this resource with a positive result, compared to 30% with a negative result and 55% with a VUS/Other result (Table 3). Among neonatologists who did consult a genetics expert prior to disclosure, the most commonly used resources were a literature search, a Google search, or no additional resource (Supplemental Table 2).

Table 3 Neonatologists’ use of resources prior to the disclosure meeting.
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Qualitative

In-depth interviews were completed by 20 neonatologists who had, in total, completed 77 disclosures (median 3 disclosures per neonatologist, range 2 to 9) from all participating NICU sites (10 from Massachusetts, 3 from New Jersey, 3 from Florida, 3 from Texas, and 1 from Alabama). Among the 77 disclosures completed, 22 were positive results, 28 negative, and 27 VUS/Other. Themes and subthemes are presented as part of the COM-B framework and summarized in Table 4 [19].

Table 4 Themes and Quotes.
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Capability

Theme 1: Neonatologists prepare for disclosures using a variety of resources, such as genetics experts, online resources, and the CIR provided by the VIGOR Study

Neonatologists report preparing for results disclosures in advance of the meeting by utilizing a variety of resources, such as online sources, the VIGOR team, and the CIR. Many neonatologists also reported preparing differently based on the result type (subtheme). In particular, providers reported preparing less for negative results and doing “a lot more prep work” for positive and uncertain results. Neonatologists expressed that preparation relieved their own feelings of anxiety and increased their feelings of comfort (subtheme). Providers noted disclosures felt “a bit easier” after preparing, and that reading made them feel “more confident” going into disclosure sessions.

Theme 2: Many providers felt that more experience participating in disclosures, previous experience caring for patients with a genetic condition, and/or giving difficult news to families made them feel more confident, comfortable, and better about doing disclosures

Neonatologists described that experience “[giving] genetic test results in the past” and feeling “already used to having to give the [genetic] information” as helpful. They also described that their job made them “very experienced in disclosing both good and bad information to families,” which was a helpful skill when doing disclosures of rGS results. While many neonatologists described improved confidence, comfort, and the overall feeling of “[getting] better with each one” as they performed more disclosures, some felt that “it didn’t get better,” or that more experience didn’t make them feel any more comfortable or confident. Some of these neonatologists preferred to “leave it with the geneticists who know the most about it”.

Theme 3: The perceived ease and comfort of disclosures depended on the result type and family reaction

Neonatologists described varying levels of ease and comfort with disclosing results, influenced by whether results were positive, negative, or uncertain. Many neonatologists expressed that negative results were very straightforward while simultaneously acknowledging that families must understand that a “negative” result does not completely rule out a genetic condition. Those with results of uncertain significance were viewed as more difficult to explain. Notably, while neonatologists often reported that negative results were easier to explain to families, they could be “stressful going into” because they did not have “an answer [for the families]”.

Some providers felt that the family’s reaction influenced their comfort. Providers described this aspect as the “most challenging part of it” and that their “comfort level is linked completely to how the family is reacting.” Neonatologists felt more comfortable and at ease when they perceived the family understood what they were communicating and less comfortable when they felt they “[could not] reach [the family],” or the family seemed “less at ease than [the neonatologist] hoped”.

Opportunity

Theme 1: The format of the disclosure (i.e., location, in-person versus tele-health) contributed to providers’ view of what made the disclosure better for families

Many neonatologists described that disclosures were optimal in a private setting during a meeting dedicated to the rGS results, as genetics is already “complex enough” and “has the potential for real confusion.” Private meetings allowed neonatologists to easily communicate and for families to ask questions. However, neonatologists acknowledged that family convenience and result type contributed to the preferred format (subtheme). For instance, while the in-person format was often preferred, many neonatologists recognized that remote delivery of results could be more convenient for families, especially when the infant was already discharged home. When disclosing remotely, providers expressed video teleconferences as being “preferential to a phone call” in order to “read the room” and “read how the parents are processing information.” Neonatologists also described a preference towards disclosing positive, “serious,” or “life-altering” results in-person, while negative results were perceived as acceptable to give over the phone.

Theme 2: The use of interpreters generally had a negative impact on the quality of the disclosure event because it was not as smooth, interpreter quality varied, and genetic terminology can be difficult to translate

Neonatologists described multiple ways in which language discordance and the subsequent need for interpreters negatively impacted or acted as barriers to their disclosure experiences. Many providers noted that in genetics, “some of the terminology is hard” or doesn’t “translate word-for-word,” making accurate interpretation difficult “even for actual certified interpreters.” Neonatologists also pointed out that the pauses needed in conversations when working with an interpreter were “harder” and not “as smooth” compared to talking “directly” to a family when the neonatologist speaks the same language. In this scenario, there are “less pauses in the information as it’s flowing”.

Theme 3: The perceived health literacy level of the family contributed to how information was presented

Many providers noted the need to tailor the delivery of the results to each family, depending on their health literacy level, specifically about genetics. Some providers described having to go “back to the basics of genetics” as some parents “haven’t been exposed to genetics at all,” while others found parents “understood things very easily”. It was also noted that parental understanding could differ even within a family, and therefore, the need to “meet [parents] where they are”.

Theme 4: Immediate access to a genetics expert during the disclosure meeting was helpful and favorable to neonatologists

Throughout the interviews, neonatologists stated that they preferred to have a local genetics clinician present during disclosure meetings and found this favorable. They described feeling “happy,” “appreciative,” and “glad” when a genetics expert was present, especially for a neonatologist’s first few disclosures or when results were positive or uncertain. The joint disclosure was seen as helpful for families to understand nuances such as what aspects of their baby’s presentation were “[genetic] disease-related versus prematurity-related,” as well as to ensure the information delivered was complete and correct, answering questions that the other provider could not answer. Some neonatologists highlighted the importance of an “anticipatory discussion” before the meeting between clinicians, when a genetics expert would be present, to plan how they would “tag-team” the conversation. Many neonatologists described giving an overview of the case and results before allowing the genetics expert to go into more detail and discuss outpatient and long-term follow-up. Neonatologists highlighted a lack of familiarity with “the outpatient world” and long-term follow-up care for infants with genetic conditions and found it “helpful” and “comforting” to have the geneticist there as the “expert in that sub-specialty.” They described the benefit of having the genetics expert present to help families “paint a picture of how the kid might look at six months,” and better prognosticate.

Motivation

Theme 1: Neonatologists feel that disclosing genomic sequencing results is within their scope of practice and part of their role

Neonatologists concurred that disclosing rGS results was part of their professional role. They explained that they were involved in “every other aspect” of the infant and family’s care and saw disclosures as “just one of the aspects” or “the next sequential step” of that care. Neonatologists highlighted that it was their role to “talk to families” and discuss “all of their results, regardless of what those results may be.” They also viewed it as “important” and on “the priority list” to participate in these conversations, given the pertinence to the medical care they are actively providing. While neonatologists agreed that it is within their scope to disclose rGS results, some believed that changes in management and long-term care plans should fall to the geneticist and/or other specialists and that it was “too much” on the neonatologist to “talk about everything”.

Theme 2: Neonatologists feel that their trust and ongoing relationship with families enhances their ability to disclose genomic sequencing results

Some neonatologists emphasized that the trust and rapport built between themselves and families had a positive impact during rGS disclosures, which are often stressful for families. They expressed that a rGS result disclosure delivered by a neonatologist had value since the neonatologist was a person that “people [families] have dealt with every single day” and “know all the things with [a family’s] baby,” which could make the family more comfortable or at ease, compared to “the geneticist who comes in once”.

Theme 3: Participation in the disclosure process is a learning opportunity for neonatologists

In addition to viewing rGS disclosures as part of their practice, neonatologists saw this as a learning opportunity both in terms of their disclosure skills and knowledge of genomic medicine. Neonatologists explained how they improved their ability to give genomic information to families and to adjust their approach based on how “parents are responding.” Many neonatologists also highlighted the value of observing a local genetics provider present at disclosures to improve their own skills and have someone to “mimic” in future encounters. Neonatologists also explained that participation in disclosures was an impetus to stay up to date with rapidly changing genetic information that will ultimately become a “very common part of our diagnostics”.

Theme 4: Neonatologists are motivated to participate in disclosures because it helps support babies and families

Across all interviews, neonatologists described supporting patients and families as a strong motive for their participation in disclosures of rGS results. Neonatologists want to provide answers and closure to families (subtheme); they described it as “rewarding” to provide an “answer” or “closure” to these families, especially when that answer helped inform the infant’s care. In many cases, the disclosure instances that stood out to neonatologists were those with a diagnostic result explaining a complex and severe condition. In contrast, neonatologists reported that it was “frustrating” when they had to deliver information that may not lead to a feeling of closure for the family. While some neonatologists noted that participating in the disclosure process was a “little extra work” for them, they stated it was worth the additional effort “for the babies, or for the families.” Neonatologists are also motivated to participate in the rGS process because it can optimize medical care and may provide an additional service for their patients (subtheme). Neonatologists acknowledged the overall value of “better prognostic or treatment information” for infants and families in the long term. Neonatologists also mentioned that diagnoses that were made by rGS allowed them to obtain resources for their patients that would otherwise be difficult to access, including additional imaging they “would have never ordered”, or specialized developmental programs.

Discussion

We examined perspectives of neonatologists who work in safety-net NICUs across the US and found that they generally feel comfortable disclosing rGS results and implications and answering questions with families. Neonatologists highlighted the actions they take to prepare for disclosures, including reading the VIGOR CIR, internet searches, and speaking with genetics experts both within their institution and on the VIGOR team. They reflected that this preparation was particularly important when preparing for positive results disclosures. Neonatologists also acknowledged the helpfulness and importance of genetic expertise during the disclosure meeting itself, particularly as it relates to subsequent management. Neonatologists felt that rGS disclosures were within their scope of practice, that their established relationship and trust with families were valuable during disclosures, and stated that they were motivated by a desire to improve the health and well-being of their patients and their families. The results of this study provide important insights into the role and self-perceived capability of neonatologists in providing genomic care.

As rGS is becoming more widely available in NICUs across the US and the number of clinical geneticists is decreasing, the need for neonatologists to play a significant role in disclosure of rGS results becomes more important [11]. Previous work, including our pre-implementation focus groups, has elucidated that while neonatal providers see value and utility in rGS, they feel uncomfortable interpreting, disclosing, and managing care based on results due to limited knowledge and resources [14, 21]. Project Baby Deer, which examined the implementation of rGS in critically ill neonates and pediatric patients in Michigan, corroborated these findings [15]. The findings of our study differ from those of these previous studies in that most neonatologists reported feeling somewhat or very comfortable disclosing rGS results, though this comfort relies heavily upon both local and VIGOR-supplied genetics experts and resources. However, neonatologists in our study also highlighted that they preferred to have real-time support from a genetics expert, particularly when discussing changes in management and long-term follow-up.

Our findings also corroborate and build upon those of previous studies that underscore the need for providers to tailor and optimize conversations regarding genomic sequencing to the needs and preferences of a family, including modality, language concordance, and perceived health literacy levels [21]. Neonatologists’ reflections indicate that their trust and relationships with families are powerful in this regard, giving them intimate knowledge and insight and enabling them to tailor disclosure approaches to support the families’ needs. Thus, in the NICU setting, where genetics clinicians may not yet have a close, longitudinal relationship with families, the role of the neonatologist may be instrumental.

Another study that examined neonatologists’ disclosure of genomic sequencing results following additional educational support found that neonatologists committed more errors when disclosing results compared to genetics experts [22]. While we did not specifically quantify or examine errors committed by neonatologists during rGS disclosures, many neonatologists in our study acknowledged areas of uncertainty and/or insufficient knowledge that may impact their disclosure abilities. Taken together, these results highlight that while neonatologists may feel comfortable disclosing rGS results, the information they are relaying to families may be incorrect or incomplete. As such, the role of genetic support, both local and virtual, is crucial to ensuring disclosures performed by neonatologists are accurate and effective and may point to a collaborative effort with the two experts as the preferred approach.

While our results demonstrate the feasibility of safety-net neonatologists to deliver rGS results with remote support, neonatologists frequently reflected on their discomfort discussing long-term prognosis and care due to their lack of expertise. Given that neonatologists only care for patients in infancy and the shortage of genetics experts is not limited to the NICU setting, most of this care will ultimately fall to outpatient specialists or primary care physicians [11]. Previous studies have shown that other non-genetic providers are not comfortable addressing genetic results and may even mismanage medical care for patients with genetic conditions [23,24,25]. This is an important consideration as rGS becomes more readily available and patients with diagnosed genetic conditions move beyond the neonatal period. Future studies could investigate how a similar virtual model could support other medical specialists and primary care physicians to provide equitable genomic care across the lifespan. It is also crucial to further investigate innovative strategies to address language discordance, which may include genomic-specific training for both in-person and virtual interpreters and/or better continuity of interpreters working in the NICU and beyond.

Strengths of our study include the involvement of neonatologists who work in a variety of settings across the US with variable access to in-person genetics expertise, therefore representing a breadth of safety-net NICU settings, the stratification of results by type of disclosure result (positive, negative and VUS) and analysis of both qualitative and quantitative data to enhance understanding of perspectives of neonatologists. Nonetheless, as our study was focused on NICUs in only 5 states, it is possible that our results may not be generalizable across all safety-net NICU settings. Additionally, we did not involve neonatologists in the rGS consent process, which could contribute to the impact of the longitudinal relationship on comfort disclosing results; this may be considered in future models and research.

Given a limited clinical genetics workforce and increasing access to rGS, it is key to consider ways in which genomic medicine can be equitably delivered [11]. We demonstrate the feasibility of safety-net neonatologists to feel comfortable disclosing rGS results with supplemental education, the VIGOR CIR, readily available virtual support, and in many cases a local genetics clinician present in the family meeting. Our results point to a collaborative model as optimal for rGS disclosure, which may decrease the burden on clinical geneticists and allow for flexibility and expanded access by utilizing virtual connections to such expertise. Additional future work could include examination of common gaps in neonatologists’ genomic knowledge and education and development of additional resources to address these, as well as survey perspectives of patient families about their experiences receiving rGS results from neonatologists.