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International Journal of Neonatal Screening
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  • Open Access

17 January 2024

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

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Biomedical Ethics Research Group, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
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Melbourne Law School, The University of Melbourne, Melbourne, VIC 3052, Australia
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Sir Peter MacCallum Cancer Centre Department of Oncology, University of Melbourne, Melbourne, VIC 3052, Australia
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Australian Genomics, Melbourne, VIC 3052, Australia
Int. J. Neonatal Screen.2024, 10(1), 6;https://doi.org/10.3390/ijns10010006
This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period
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Abstract

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public’s perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23–72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public’s views and preferences to inform the delivery of a gNBS program in the Australian context.

1. Introduction

Newborn bloodspot screening (NBS) is a highly successful population screening initiative in many parts of the world [1]. Developed by Robert Guthrie in the 1960s, the first NBS test used a blood sample collected from a heel prick onto filter paper (now known as the Guthrie card) to test for phenylketonuria [2]. While some conditions (such as congenital hypothyroidism and cystic fibrosis) were added in the 1970s and 80s [3], the 1990s saw an expansion of the number of conditions included in NBS panels with the introduction of tandem mass spectrometry technology [4]. Today, NBS programs around the world are highly successful, operating in many countries at relatively low cost with near-universal uptake [5]. The level and detail of informed consent required for traditional NBS varies by jurisdiction; in many countries, consent for traditional NBS is implied [6], yet overall, population trust and uptake remain high [7].
Standard NBS (stdNBS) acts as a screening test, meaning subsequent diagnostic testing is usually required to confirm a diagnosis [7]. In some cases, the diagnostic testing is genetic in nature; such NBS programs typically follow a protocol of first-tier biochemical testing (commonly tandem mass spectrometry), followed by genetic or genomic sequencing as a second-tier confirmatory/diagnostic test as appropriate, such as for cystic fibrosis [5,8,9]. However, some countries are either considering or beginning to include genetic testing as part of the first-line testing in NBS for conditions, such as spinal muscular atrophy [10,11].
Recent dramatic reductions in the timeframes in which genomic sequencing can deliver results, as well as the price, mean its application in time-sensitive screening programs such as NBS is becoming a reality [7]. Genomic newborn screening (gNBS) provides a single assay for the testing of many genetic conditions that would benefit from detection in infancy, but which do not have biochemical markers measurable by traditional NBS methodologies [12].
gNBS has sparked considerable discussion in the literature. Expert ethicists and clinicians in the field have suggested that we may not yet be ready for the implementation of gNBS [7,13] and position statements from leading bodies worldwide also urge caution at this time [14,15,16,17,18]. Yet, inclusion of genomic sequencing in NBS programs is not only inevitable [19,20], but already occurring [21]. Jurisdictions including the US (through the Guardian study, BabySeq, BeginNGS, and Early Check), England (Generation Study), Belgium (Baby Detect), France (PERIGENOMED), the EU (Screen4Care), and Australia (BabyScreen+) are all piloting gNBS programs as part of research studies [22,23].
To date, the inclusion of conditions in NBS programs has been based on the goal of identifying newborns with serious conditions who are likely to benefit from treatment early in life [22,24]. Yet with gNBS, the potential to screen for more conditions means that these parameters are being questioned [25,26,27].
Some work has been conducted using a variety of methodologies exploring parents’ and the public’s preferences and perspectives on gNBS in the US [20,28,29,30,31,32,33,34,35,36,37,38,39,40,41], Canada [42,43,44], the UK [45,46] and New Zealand [47]. Surveys have been conducted with Australian parents exploring their views [48,49]; however, to date, no in-depth qualitative work has been conducted with members of the Australian public.
As gNBS programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise [22]. This study therefore aimed to explore the Australian public’s perspectives and values regarding key gNBS characteristics and preferences for gNBS service delivery.

2. Materials and Methods

We recruited English-speaking members of the Australian public over 18 years of age. Advertisements were distributed via social media posts on Facebook. Individuals who were interested in participating were directed to a website where they could register their interest and provide contact details. FL then telephoned potential participants to ask a series of screening questions to confirm eligibility and maximise diversity in focus group participation (e.g., diversity of age, gender, parental status, and geographical distribution). Screened individuals were sent further information about the study via email, invited to sign an online consent form, and provide their availabilities if they wished to participate. Participants were provided with a AUD 75 voucher as remuneration for their time at focus group completion.
Sampling aimed for heterogeneity in participant characteristics, including age; gender; location (by state and metropolitan/rural location); parental status; and country of birth and language spoken at home (as measures of cultural and linguistic diversity). Recruitment continued until sufficient heterogeneity was achieved and until minimal new data were generated addressing the study aims.
Prior to the focus groups, participants were asked to watch a 3 min video [50] to provide them with background information about the topics that would be discussed. The video included information about what DNA and genomic sequencing are, and how genomic sequencing can lead to disease detection. It also outlined what stdNBS in Australia involves and briefly introduced the idea of using genomics in NBS. Focus groups explored participants’ preferences and values regarding key gNBS characteristics and preferences for gNBS service delivery. The degree to which concepts such as the uncertainty and sensitivity of gNBS, targeted versus broader testing approaches, and the potential test outcomes were covered varied between focus groups depending on the discussion. The focus group guide is included as Supplementary Material.
Focus groups were facilitated by DV with support from FL and conducted via Zoom. Both DV and FL are skilled qualitative researchers with experience in focus group methodology and training in genetic counselling. None of the participants were known to the researchers.
Focus groups were recorded using the Zoom recording function and transcribed by FL. Interview transcripts were analysed by using inductive context analysis, whereby content categories are generated from the data, rather than predetermined [51]. Coding continued iteratively until all data relevant to the research question had been coded into categories and subcategories. Findings were discussed by DV and FL to ensure rigour. Data analysis was managed using NVivo (released March 2023) [52].
This study was reviewed and approved by The Royal Children’s Hospital Human Research Ethics Committee (HREC ID: 91392). Participants provided voluntary, informed consent.

3. Results

3.1. Participant Demographics

We had 643 people express interest in the study and managed to contact and confirm eligibility in 155 of them. No potential participants were excluded.
Seventy-five members of the Australian public aged 23–72 participated in 1 of 15 focus groups (range 2–8 per group). The participant characteristics are summarised in Table 1. We had representation from 7/8 states/territories across Australia. Thirteen participants self-reported they were medical or allied health professionals. Seventeen participants disclosed they had a child with a genetic condition. Eleven participants were on parental leave at the time of the focus group.
Table 1. Participant characteristics.

3.2. General Support for gNBS

Below, we present quantitative and qualitative data. Participants were polled at the beginning and end of each focus group to both facilitate discussion, and gauge if perspectives on gNBS changed over the course of the discussion. Quotes are used to illustrate our qualitative findings. An ellipsis (…) reflects where a significant portion of speech has been removed, and square brackets represent where a word has been replaced for clarity or to protect participant anonymity. Quotes are deidentified to protect participant anonymity; codes are used to identify participants based on their focus group number (e.g., FG1 P1 refers to focus group 1, participant 1).
All focus groups were asked whether they thought genomics should be used in newborn screening programs. Prior to the discussion, the majority (77%) of participants thought that genomics should be used, with 23% stating they were unsure. Following the focus group, the same number of participants thought that genomics should be used, however, in contrast to the beginning of the session, a proportion (7%) thought it should not be used.
Half of the focus groups were asked whether a NBS program that includes genomics should be run any differently to stNBS programs. Just under half (46%) of the participants expressed the view that a gNBS program should be run differently to a stdNBS program prior to the discussion. After the discussion, most (74%) thought it should be run differently.
The results of the polls are shown in Table 2.
Table 2. Results of the poll.
Qualitative data showed that participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation.
“Personally, I think if the technology is there for us to screen and find anomalies of whatever sort early, I think we should use it.” [FG3 P1]

3.3. Perceived Benefits of gNBS

Participants consistently highlighted receiving an early diagnosis as the leading benefit of implementing gNBS (Table 3, Quote 1). This was frequently linked to the potential for early treatment and intervention, or to access other forms of assistance, such as peer support (Table 3, Quote 2).
Table 3. Benefits of gNBS.
Participants also reflected on either their own or friends/families’ experiences of the diagnostic odyssey, suggesting that receiving an earlier diagnosis would reduce the stress associated with lengthy diagnoses (Table 3, Quote 3).
Furthermore, participants foresaw that receiving an early diagnosis would allow parents more time to prepare, both emotionally and practically (Table 3, Quotes 4 and 5).
Participants highlighted the potential benefits of gNBS to research and the ability to increase knowledge about rare genetic conditions (Table 3, Quote 6). They mentioned that an improved understanding of genetic conditions would lead to better resource allocation, such as government funding, to support patients and families with these conditions (Table 3, Quote 7).
Benefits of gNBS for other family members were also raised by participants. This included the ability to inform parents, siblings, and extended family members that there was a genetic condition within the family and explain how this knowledge could be used in pregnancy planning (Table 3, Quotes 8 and 9).

3.4. Potential Challenges with gNBS

Participants were concerned about the potential psychological impact that a diagnosis from gNBS could have on parents of newborns. They reflected that having a newborn was already a stressful time for new parents and were concerned about the added stress that an early genetic diagnosis might have on the family (Table 4, Quote 1). This was particularly the case for uncertain gNBS results and untreatable conditions (Table 4, Quote 2).
Table 4. Potential challenges with gNBS.
In addition to psychological impact, participants recognised that a diagnosis in a child might also have clinical implications for the parents as asymptomatic or mildly affected carriers of the condition (Table 4, Quote 3).
Relatedly, some participants discussed the potential negative impact of a diagnosis from gNBS on parent–child bonding (Table 4, Quote 4).
Participants expressed concern for the security of their and their child’s genomic data following gNBS (Table 4, Quote 5). They were particularly concerned about how the data might be used to discriminate against individuals in terms of insurance and employment later in life (Table 4, Quote 6). Because of this, they expressed that there should be strict regulations and processes for how genomic data are stored, shared, and accessed.

3.5. When to Discuss and Obtain Consent for gNBS

Most participants agreed that the availability of gNBS should be raised and discussed during pregnancy, rather than at, or soon after, the birth of the child (Table 5, Quote 1). Participants noted that birth and the immediate newborn period was a busy and stressful time for parents, and that this was therefore not an ideal time to be discussing something as complex at gNBS.
Table 5. When, who and what: Discussing and consent for gNBS.
The exact timepoint at which gNBS should be discussed with soon-to-be parents raised many differing opinions. Some participants thought that gNBS should be discussed as early as possible, with some even suggesting implementing public education campaigns or raising it with couples trying to conceive (Table 5, Quotes 2 and 3).
However, others commented that various stages of pregnancy—from the first confirmation of pregnancy appointment to sometime in the third trimester—were appropriate times to have the conversation (Table 5, Quotes 4 and 5).
Some suggested that gNBS should be raised and discussed multiple times and potentially by multiple specialists to allow parents to fully understand the screening process (Table 5, Quote 6).
For similar reasons, many participants articulated that formal consent should also be obtained prior to birth (Table 5, Quote 7).
Some participants raised the concept of implementing two stages of consent, whereby parents provided formal, written consent prior to the birth, but that there was a process of ‘rechecking’ consent at the time of sample collection (Table 5, Quote 8).

3.6. Who Should Discuss gNBS

Participants were asked who they thought gNBS should be discussed by. Many suggested members of the existing prenatal care team, including the general practitioner (GP), obstetrician, midwife, hospital staff, or maternal and child health nurse (Table 5, Quotes 9, 10 and 11).
It was expressed that familiarity and rapport were important to have with the person discussing gNBS, and so someone that parents already have an existing relationship with would be best placed to discuss gNBS.
Some participants raised concerns that GPs were not adequately trained to discuss genomics or rare diseases with their patients.
Despite commonly proposing obstetricians or midwives as the most appropriate health professional to discuss gNBS, some participants were concerned that midwives might not have the training required to discuss gNBS in detail.
Other participants commented that discussions about gNBS required specialist expertise from someone like a genetic counsellor (Table 5, Quote 12).
Irrespective of who was responsible for discussing gNBS with parents, participants recognised that they needed to have the skills and training to provide accurate and comprehensive information, and to answer any questions that might arise (Table 5, Quote 13).

3.7. What Parents Need to Know about gNBS

Participants generally expressed that as much information as possible should be given to parents, and that discussions about gNBS should be detailed (Table 5, Quote 14).
However, others recognised that parents might be overwhelmed by receiving too much information, and instead, the detail of informed consent discussions should be tailored to the needs of each individual parent and family (Table 5, Quote 15).
There were also specific aspects of the screening test that participants thought parents should be made aware of. These included things such as which conditions were being tested for and which were not (Table 5, Quote 16).
With regard to processes, participants explained that parents needed to be made aware of what happens after gNBS, either in the case of a negative or positive result. This included an explanation of the timeframe, including when to expect to hear from a health professional regarding the child’s result (Table 5, Quote 17).
Participants agreed that parents should know what would happen to their child’s data, including where it would be stored, for how long, and who would have access to it (Table 5, Quote 18).
Participants wanted other resources to support parents in understanding and making a decision about gNBS for their child. As well as sufficient opportunities to ask questions of their health professional, participants suggested pamphlets, websites, a hotline, or even a genetic counsellor as alternative sources of information about gNBS (Table 5, Quote 19).

3.8. Type of Consent

When asked what type of consent gNBS should require, participants compared this with their experiences of consent for other tests and investigations (Table 6, Quote 1).
Table 6. Type of consent.
Several suggested that the choice about whether to have gNBS should be like the choice about whether to vaccinate against COVID-19. Others recognised that many things happen in hospital without explicit parental consent, and questioned whether gNBS should be any different. Yet some suggested that because most things for children did in fact require explicit consent, so should gNBS.
Reflecting specifically on their experience of stdNBS, most parents believed that consent for gNBS should be different (Table 6, Quote 2). Those that believed it should be the same assumed that existing consent processes for stdNBS were robust and in-depth (Table 6, Quote 3).
Some groups discussed whether gNBS should be mandated, whereby parents would have no choice but for their child to receive screening (Table 6, Quote 4). However, most thought that this was not appropriate, and that parents should instead be given the opportunity to opt-out (Table 6, Quote 5).
Irrespective of a parent’s decision, participants thought that they should be able to withdraw their consent at any time in the process (Table 6, Quote 6).
Participants generally agreed that gNBS should require explicit and informed consent from parents prior to being administered (Table 6, Quote 7). They explained that choice was important in both protecting parents’ autonomy, but also in facilitating trust in a population-based screening program.
Whether both parents needed to consent for gNBS for it to occur was a contentious issue in the focus group discussions. Some participants demonstrated strong views that both parents should be involved (Table 6, Quote 8). However, others ecognized that this was not always practical or possible, and that therefore only one parent’s consent should be required (Table 6, Quote 9).
Illustrative quotes are shown in Table 6.

4. Discussion

Our findings show that, after education and discussion, the members of the Australian public we engaged with were generally supportive of including genomic sequencing in NBS. This is in line with other studies reporting positive public and parental attitudes towards, and high interest in, gNBS, such as in the US, Canada and New Zealand [22,53]. Likewise, Genomics England demonstrated wide support for implementing genomic sequencing into NBS programs in their large-scale public deliberative approach [45,54]. Surveys with parents of healthy children enrolled in a randomised clinical trial of gNBS in the US also showed general support for population-wide implementation of gNBS for every newborn [39], and several studies report that parents express hypothetical interest in receiving genomic information about their newborn [29,30]. Of note, our participants thought a gNBS program should be run differently to stdNBS, which mainly related to the consent process as we discuss further below.

4.1. There Is Support for gNBS Provided Potential Risks Can Be Addressed

Participants in our study saw many benefits of gNBS, including early diagnosis, progression of medical research, and wider family benefits. However, participants were also cognisant of several potential risks associated with gNBS, such as data security, privacy, and the potential for discrimination. Research with parents and clinicians in the US demonstrate that both groups perceive both benefits and risks associated with gNBS; one of the major risks identified is the potential for psychological distress as a result of screening [20,37]. Our participants were also worried about the potential negative psychological impact of an early genetic diagnosis on parents and on parent–child bonding. Reassuringly, recent research from the BabySeq Project shows that families experience no sustained negative psychosocial effects from gNBS [55,56]. Interestingly, previous work suggests that parents perceive greater benefits and fewer risks associated with gNBS than clinicians [20,37], implying that our concerns may not be reflected by the wider public.
The concerns for genomic data security and privacy, and potential avenues for discrimination in employment and insurance raised by our participants are similar to those identified in a survey with parents conducted in the US [20]. Because of the very nature of gNBS programs, it is difficult to predict what changes in regulation may occur throughout the lifetime of today’s newborns, raising challenges for ensuring informed consent and maintaining trust in such programs. Relatedly, others have raised concerns about the potential infringement of the child’s autonomy by removing the child’s ability to make their own decisions about knowing their genomic information later in life [37].

4.2. Explicit Consent Should Be Required for gNBS

Although others in the literature have raised the timing of information provision and consent for gNBS as a concern [22], to our knowledge, this is the first study to gauge public opinion on the issue. Focus group participants agreed overwhelmingly that gNBS should be raised and discussed during pregnancy, probably more than once by multiple practitioners, and that at least a first stage of consent should also be implemented before birth.
Participants explained that a familiar face, that is, a member of the existing care team, would be best placed to have these discussions about gNBS with prospective parents. However, they raised concerns for the level of knowledge and skill required to have these conversations, suggesting that some professional education or training is required prior to the implementation of gNBS. Other population screening programs—such as expanded reproductive carrier screening—raise similar issues with health professional preparedness and a need for training [57]. In fact, the widespread adoption of genomic technologies across many specialty areas of medicine is generating considerable discussion about the need to upskill non-genetics health professionals to support patients [58]. Other authors have suggested that midwives in particular will play a significant role in the delivery of gNBS, and that any changes to NBS practice should therefore include multifaceted education programs aimed at such key stakeholders [59].
Participants in our study desired tailored informed consent discussions, covering as much or as little detail about gNBS as each parent required, which corresponds with a tiered and layered approach suggested by others in relation to diagnostic genomics [60]. There were, however, some key aspects that participants expressed should be communicated to all parents, including which conditions were being screened; the process following gNBS (particularly if a result suggesting a high chance for a genetic condition was identified); and what would happen to the child’s data. Participants also expressed that additional resources in varied formats could be useful to communicate complex information to families.
In Australia, NBS is voluntary and free for all infants, with uptake being close to 100% [49]. For gNBS, parents are likely to require more information to ensure that consent is informed and to maintain such high trust and coverage [7]. One concern is that implementing a more detailed and potentially burdensome informed consent process into NBS would reduce participation, thereby reducing the intended benefits of the program overall [36]. Although our participants appreciated this, they maintained that explicit, informed consent should be required for gNBS (rather than, for example, implicit consent or mandated screening) to facilitate trust in the program. Surveys with parents enrolled in a randomised clinical trial of gNBS in the US also suggest that parents see informed consent as more important for gNBS than for stdNBS [39]. Reassuringly, early studies obtaining explicit informed consent do not report a reduction in the uptake of gNBS compared to stdNBS [36,48,53]. However, some have suggested that introducing gNBS initially as a separate screening test to stdNBS may mitigate some of this risk [22].

4.3. Members of the Public Hold Less Conservative Views than Health Professionals

Our data support the general trend that views of the public about gNBS are less conservative than those of health professionals, who frequently report that gNBS is not currently ready for population-wide implementation [13,49,61,62,63]. Previous qualitative work also shows that while Australian healthcare professionals do not feel it is currently appropriate to incorporate genomic sequencing into NBS, they believe it will be implemented in the next decade [13].
One possible reason for this discrepancy is that parents and the public do not fully appreciate the complexities and potential challenges relating to gNBS. Certainly, one potential limitation of this study is that we deliberately provided limited information about how gNBS might be implemented prior to the focus groups so as not to bias their views. Topics such as the possibility of identifying variants of uncertain significance or late onset forms of disease using gNBS could be challenging for members of the public to understand. However, our participants raised many of the issues that concern HPs, indicating they do appreciate the nuances to some degree. This may suggest that perhaps HPs are overly concerned about these issues, or indicate higher levels of genetic exceptionalism within healthcare workers than the public. However, implementation of any gNBS program should consider the desires of the general population alongside those of experts.

5. Conclusions

Genomic sequencing has the potential to drastically increase the scope of existing NBS programs. Including genomic sequencing in NBS programs could help to identify conditions that traditional biochemical screening cannot [7] and overcome some of the current limitations of biochemical screening in premature and unwell infants [22]. Furthermore, the population-wide genomic data that would be generated from gNBS would also allow for research into the diagnosis, treatment and management of genetic diseases, as well as allow early access to clinical trials for those diagnosed through gNBS [22].
Implementation of such an ambitious population-wide screening program as gNBS is being considered in several contexts around the world. However, doing so without addressing parental concerns is likely to reduce trust and subsequently uptake of the program [39]. Engaging stakeholders in potential changes to NBS programs is therefore vital in maintaining a high participation rate [49] as well as in informing the design of programs so that they are tailored to local contexts.

Supplementary Materials

The following supporting information can be downloaded at: https://www.mdpi.com/article/10.3390/ijns10010006/s1.

Author Contributions

Conceptualization: F.L., S.B., C.G. (Clara Gaff), L.D., A.D.A., C.G. (Christopher Gyngell), I.G., R.P., S.L., Z.S. and D.F.V.; Data collection: F.L. and D.F.V.; Formal analysis: F.L. and D.F.V.; Funding acquisition: S.B., C.G. (Clara Gaff), L.D., A.D.A., C.G. (Christopher Gyngell), I.G., J.S., S.L., Z.S. and D.F.V.; Methodology: F.L. and D.F.V.; Project administration: F.L., Z.S. and D.F.V.; Writing—original draft: F.L. and D.F.V.; Writing—review and editing: F.L., S.B., C.G. (Clara Gaff), L.D., A.D.A., C.G. (Christopher Gyngell), I.G., R.P., J.S., S.L., Z.S. and D.F.V. All authors have read and agreed to the published version of the manuscript.

Funding

The authors acknowledge the infrastructure funding received from the Victorian State Government through the Operational Infrastructure Support (OIS) Program. This work was funded by the Australian Government through the Medical Research Future Fund, as part of the Genomics Health Futures Mission (Grant number GHFM2015937). This research was funded in whole, or in part, by the Wellcome Trust [Grant number WT203132/Z/16/Z]. For the purpose of open access, the author has applied a CC BY public copyright license to any Author Accepted Manuscript version arising from this submission.

Institutional Review Board Statement

The study was conducted in accordance with the Declaration of Helsinki, and approved by The Royal Children’s Hospital Human Research Ethics Committee (HREC ID: 91392).

Data Availability Statement

The datasets generated during the current study are available from the corresponding author upon reasonable request.

Acknowledgments

The authors thank the participants for their involvement.

Conflicts of Interest

The authors declare no conflicts of interest.

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