Views of children and young adults about Whole Genome Sequencing in Newborn Screening: A qualitative study

doi:10.21203/rs.3.rs-3200625/v1

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Views of children and young adults about Whole Genome Sequencing in Newborn Screening: A qualitative study

https://doi.org/10.21203/rs.3.rs-3200625/v1

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Journal Publication

published 19 Jun, 2024

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Whole Genome Sequencing (WGS) in newborn screening is ethically complex. We explored the views of young adults and 11–15 year olds to understand the views of the next generation of parents and those approaching the age at which they could be asked to reconsent to the storage of their genomes.

This two-phase UK study involved: a secondary data analysis of focus groups with young adults; a diary and focus group study with children with CF. Diaries were analysed using content analysis, focus group data were analysed using reflexive thematic analysis.

Diaries illustrated how children formed genomic knowledge and their salient questions. Participants broadly supported WGS-NBS, but this is driven by a belief that all results improve health. Pre-study knowledge was sometimes correct, other-times it drew on vicarious ideas which could cause distress. Children showed an ability to appreciate the complexity of deciding which results should be returned.

Focus groups: All participants counterbalanced the benefits and risks of WGS-NBS. Children demonstrated innate trust in doctors, whereas young adults wanted parent-doctor collaboration in decision-making around WGS. Young adults conditional supported WGS-NBS depending on factors including treatability and consent. Although children want parents to be informed of all results and value knowledge of conditions, they too valued informed choice. More research is needed to understand healthy children’s views. Although small samples this work provides insight into the understanding and concerns of young adults and children which could help when trying to discuss this topic with them.

Health sciences/Health care/Health policy

Scientific community and society/Social sciences

Whole Genome Sequencing

Newborn Screening

Cystic Fibrosis

Qualitative methods

Thematic Analysis

Newborn bloodspot screening (NBS) identifies serious, treatable conditions. Whole Genome Sequencing (WGS) is being piloted in NBS (WGS-NBS) to increase diagnosis and treatment of rare conditions [1]. This is ethically challenging [2], raising questions about which results are reported and their impact [3, 4]. Incorporating societal views into WGS-NBS design is crucial to ensuring people find WGS-NBS acceptable and minimising harm [5, 6].

Parents value WGS-NBS’s early diagnosis and treatment, but have concerns about psychological distress, removing children’s autonomy, data storage and privacy, adult-onset and uncertain results [7-10]. There is conditional public support for WGS-NBS [6]. Provisos include screening for clinically-actionable, childhood-onset conditions only, providing genetic counselling, and health-professional training [6]. 80% of a Canadian public sample expressed willingness to participate in WGS-NBS [11]. This is however, lower than the 94% who would participate in NBS and the 96% who participate in UK NBS annually [12].

Research with parents who receive NBS results shows most plan to tell their children, however, some postpone disclosure due to perceived negative impacts on children’s self-esteem and confidence [13-15] or parents’ low confidence about what and when to tell their children [14, 16]. Nascent research with 13-18 year olds [17] and 11-19 year olds with rare diseases [18] suggest they have clear views on their involvement and decision making about return of genome results for those seeking diagnosis. Exploring children’s views of WGS-NBS should help parents understand how to support their children and will become more pressing when WGS-NBS pilots require re-consent from 16 years olds about the storage of their genome.

A secondary-analysis of qualitative data exploring healthy young-adult’s HYA’s views of WGS-NBS, facilitated design of phase-two exploring children with CF’s views using diaries and a focus-group (FG). Diaries enabled participants to submit individual, confidential responses, ask questions [19] and build a relationship with researchers. A virtual FG was necessary due to risk of cross-infection [20]. Whilst this risks connection issues disrupting discussions [21] studies have successfully used virtual FG with CF participants previously [22].

Sampling

HYAs

Twenty-four 18-25 year olds were recruited from a psychology course in England and compensated with course credits.

Children with CF

Participants aged 11-15 were recruited from the CF Trust. CF Trust staff emailed participant information sheets for children and parents/guardians. Upon contacting the researcher, parents/guardians were sent the first diary-sheet; return implied consent. Parent consent and child assent were gained for the FG. Participants were given a £50 voucher. Six children completed diaries. Four participated in the FG.

Data Collection

HYAs

Four FG were conducted. The schedule, developed by xx, explored views towards pharmacogenetic testing and WGS-NBS. A slide informing participants about WGS-NBS was shown during the group.

Children with CF

Staff from the CF Trust familiar provided guidance on study materials, recruitment and processes.

Diary: This was completed over seven days within two weeks via Qualtrics. Each day participants were asked for their initial thoughts about a topic before being given information the next day. Topics were NBS, WGS, uncertain results, adult-onset results, and results usage. Participants could raise questions throughout.

FG: The schedule was developed post-analysis of HYA data. Participants were asked to develop a group-definition of WGS-NBS. Any misunderstandings were explored and clarified. Next, participants discussed what results they thought should be reported and why. Finally, participants were shown a timeline representing a lifespan and asked when people should make decisions about their data. The FG lasted 98 minutes. One participant experienced audio issues; written responses via the chat were verbalised by a researcher.

Analysis

Diary data were analysed using manifest, inductive, content analysis [23] exploring surface-level responses, but also how children made sense of topics [24]. Responses were split into meaning units and coded. Codes were checked against the entire dataset to ensure we retained a sense of the whole. Codes were reviewed for dominant patterns and grouped into understanding, positive perceptions and concerns.

Reflexive thematic analysis (RTA) was used to identify and interpret patterns across FGs [25]. An essentialist orientation aimed to report participants’ perspectives, assuming language represented their objective reality [25]. Coding was inductive at the manifest level.

Analysis occurred separately HYA’s and children’s data before merging theme-maps. The HYA structure dominates due to children’s shorter responses.

Reflexivity was practiced throughout. The researchers’ beliefs were WGS-NBS provides population-level health benefits, but should be limited to clinically-actionable, childhood-onset conditions, and implemented when sufficient family support resources are available.

Twenty-four 18-25 years olds participated (23 females, one male). The children with CF’s characteristics can be seen in table 1.

Table 1: Children with CF’s characteristics.

Pseudonym	Age	Self-rated level of Genetic Understanding
Max	13	Little
James	12	Little
Poppy	11	Average
Ben	15	Little
Katie	14	Little
Alexa	12	Nothing

Diaries

Pre-existing WGS knowledge responses ranged from “a full part of something” (Poppy, youngest child) to “Sequencing the genetic code” (Ben, oldest child). One response “Changing your genome one step at a time” (James) could cause distress if not amended.

Children’s pre-information questions were predominantly seeking to understand what terms meant (43%). The next most common were WGS-NBS practicalities (29%) such as “how does it work?” (James) with one questioning “Does it work?” (Katie, 18%). After receiving information there were 2 questions. One indicating the participant needed support to understand, the otherwas:

“How DNA and genetics can be put together into words or a 'code', that’s the bit I can't wrap my head around” (Katie).

This was from one of the older participants. Questions were raised when the term “adult-onset conditions” was introduced, but after receiving information there were no questions. When considering research using genomes questions were “Is the research cost effective?” (Ben) and “Is it ok if the child decides?” (James).

Positive perceptions (50 meaning-units)

The most common responses either showed general support “I think it’s a good idea” (Poppy), or indicated diagnoses were valued “good it will show up more things” (Poppy). That WGS would create benefits via subsequent treatment was also common:

“I think it’s a good idea to know before rather than later because it can help you become well” (Max)

The proviso of individual choice was present when considering uncertain, carrier and adult-onset results and genome storage “if there is consent, it would be a good thing” (Katie). Benefits to research (8%) featured in responses before the topic was introduced. The carrier results topic information triggered some to value information for reproductive-planning, whilst the adult-onset topic saw the value of preparing emerging in responses.

Concerns (13 meaning-units)

Children were most concerned about triggering distress. This focused on having illness knowledge before symptoms via uncertain results “it makes them [parents] nervous and worry on a daily basis” (Max) or adult-onset conditions “It could cause unnecessary stress” (Katie). Children appreciated uncertain results are challenging for medics “It must be hard for the doctor” (Alexa). They valued parental choice for non-severe results. Children also recognised children could suffer potential stigma of carrier results “it is a risk and if they choose that risk then their child could suffer” (Max).

FGs

If codes spanned both data-sets “participants” is used, otherwise we specify which data-set codes represent. Three themes were created. ‘Counterbalancing Views’: Participants counterbalanced benefits and risks. ‘Roles and Responsibilities’: views, concerns, and preferences towards parents’, doctors’, and policy-makers’ role. ‘Conditional Views’: provisos to support for WGS-NBS. Figure one demonstrates the overlap and divergence between samples across themes.

Counterbalancing Views: To Know or Not?

Most participants reported multiple benefits of knowledge gained via WGS-NBS. Some valued the reassure this would give parents focusing on comprehensiveness of genomic information. Participants perceived benefits including treatment opportunities, symptoms explanations and the ability to make informed-decisions. These were expressed differently dependent on age:

If you have a long-term illness that needs treating […] The parent might ask things like why is my child not gaining weight blah blah. But that could be explained to them and could have like more information and kind of understand it. (A4)

you can catch it early if it's something bad that can affect your life so it's better to like, catch it early. (Max)

Two children, of different genders and ages, counterbalanced these views with parents feeling anxious:

…they would be like ‘oh my god my child’s got something wrong with them’ or something like ‘oh my ga, I'm stressed out’... (Poppy)

HYAs also counterbalanced views with concerns that, uncertain, untreatable, or mild results had limited-use and could cause harm. One worried results may change how parenting behaviour, even with a mild diagnosis:

…if you know something and it might not be that serious you could treat the baby differently maybe not explicitly but in an implicit way. (C4)

Further risks described include stigmatisation “…people might see them differently or might call them names…” (C3) and parents’ distress and burden.

Counterbalancing Views: Prepare or Risk Distress?

Additional to understanding current symptoms, participants valued WGS-NBS results enabling people to prepare, practically and psychologically, for condition-onset. Children cited psychological preparation “Tell parents everything cos they get the support.” (James). Practical preparations cited by HYAs included lifestyle and environmental changes to delay or prevent onset:

…maybe if you have the cancer gene like the BRCA 1 or 2 you would just change your lifestyle to accustom to that since you know you might get cancer. (B4)

Parental-distress was frequently raised by these participants as counter-arguments to pre-symptomatic knowledge during discussions, whilst some did this simultaneously:

…if you know that it’s going to happen before it does it might become like a really negative like thing of dread […] but I don’t know, you could argue that if you’ve got time to prepare you’d be able to deal with it more positively…(B3)

Three children acknowledged the potential for distress of unanticipated results:

…the child, or the family, could take it quite erm, of a panic, and people react differently and some people could be very nervous and start to not do things to, that they do usually…(Max)

Whilst acknowledging the parental-distress risk, the eldest child suggested that, for children, the benefits of preparation may outweigh this risk. Within this they are also valuing physical-health outcomes above psychological impact:

It might upset the parents but at the end of the day it's more about the child than the parents. (James)

One HYA appreciated that making changes to optimise health were not always in parents’ control and this could cause concern:

…there might be an underlying genetic basis for the illness but perhaps its more the environment, the parent might become really stressed that if they do this that’s going to bring it [the condition] up…(C10)

Whilst the opportunity to prepare for condition onset was valued by many HYAs and all children, data illustrates how most participants appreciated this was not beneficial for all.

Counterbalancing Views: Increase Societal Health or Divide?

Societal implications of WGS-NBS were raised unprompted by HYAs. Some viewed WGS-NBS as an opportunity to improve population health:

I actually think it would be worth it getting everyone tested because it seems to suggest that it can prevent preventable diseases (C1)

Others counter-argued, expressing a fear of exacerbating health-inequalities if those with access to private healthcare can act on WGS-NBS results, but others cannot. Others, described societal-divide based on WGS-NBS uptake:

One group would ask people why they didn’t examine their kids and why didn’t they want to know everything and then the other group will be like “we don’t need to know everything because it’ll make it harder for the families”…(B6)

Although some viewed WGS-NBS as beneficial for population health, negative societal implications – including screening-out diversity and increased division arose more frequently. Children and one HYA group didn’t discuss this.

Roles and Responsibilities: Policy Level Decisions

When considering which WGS-NBS results to report, HYAs thought individuals should not choose. Inherent in responses was an appreciation of the power-imbalance this created in the therapeutic relationship:

…if you’re keeping some [genetic information] and the doctors know something, they’re always playing God in terms of like what the parents know (C9)

Rather, HYAs wanted policy-level decision enacted across healthcare to avoid subjectivity and ensure fairness. Importantly they linked this to screening-acceptability:

…it’s an issue of fairness, who gets to make the decision like I kinda agree it should be standardised one way or another otherwise there’ll be so much backlash…(B3)

Children preferred doctors to decide. Implicit in their responses are the trust that doctors know best what to reveal to patients and assumptions of improved medical-outcomes following result disclosure.

the doctors should know better, so like if they think it's better that they don’t bring it up then they shouldn’t…(James)

leave the doctors to decide whether it's serious enough to tell the patient. And if it is, then at least they know and they can do stuff to improve, and how to get rid of it. (Max)

Children described a doctor’s responsibility to inform parents of all results to avoid parental shock, retain trust, and facilitate preparation. Thus, although focused on a different solution, both participant groups un-prompted considered detrimental impacts if the public felt results were not disclosed appropriately.

Roles and Responsibilities: Parent-Doctor Collaboration

Although HYAs did not want individual doctors deciding which results to return, they did want them working collaboratively with parents when making decisions about undergoing WGS-NBS. Most felt the parent should make the ultimate decision with doctors providing advice regarding possible outcomes:

“[the parents] are going to have to raise it [the child] and answer to the child later, the health professionals should definitely advise but ultimately it should be up to the parents.” (D4)

Participants in one group believed doctors should be able to overrule parents in the child’s best interests – citing refusing medical intervention due to religious beliefs or neglect. When one participant was asked what should happen if parents decide against WGS-NBS for religious reasons, their response shows how this is warranted in very clear cases of harm which may not apply to WGS-NBS:

I think the doctors can take the lead in that case. […] there are some things that 100% work and are really positive but then the only thing holding the baby back and could kill them is whether the parents will consent to it. (A5)

When children discussed parents’ and doctors’ roles they viewed the roles as distinct. Doctors diagnose and provide parents with information regarding their child’s genetic vulnerability; parents comprehend information and act accordingly.

Roles and Responsibilities: Newborn’s Inability to Consent

All HYA groups raised the rights of the individual having WGS-NBS (the newborn) unprompted. Some reflected on the issue that parents would be making decisions which impact them as adults:

…if it was me if I, maybe I don’t want to know about certain stuff but I wouldn’t get a choice because my parents would have tested me when I was a baby. (B2)

The individual’s inability to consent was seen as unproblematic by some. The notion that parents’ beliefs would likely be adopted by their child was raised by participants in two separate groups. Again, however, this focused on clear cut cases, rather than the nuances presented in WGS-NBS:

…if their parent had this religious belief then the child is quite likely- I mean obviously people can stray from their religion, but quite likely to hold these belief systems themselves…(A1)

This tension between the individual and their parents was not raised in the children’s group.

Roles and Responsibilities: Age and WGS Responsibility

Due to the above, the researchers wanted to explore children’s opinions about what age they take responsibility for their WGS-NBS information. Children’s views varied. Initially, two felt their current age (11-13) was too young and the 3 youngest participants thought 16-18 years old was ideal:

…our age now is a bit too young cos we’re not fully matured, erm, I think erm it should be at least 16-18 when you're more, more sensible…(Max)

The eldest participant, who often offered counter-arguments, felt that 30-years-old was more appropriate. The belief that doctors know best was, again, expressed here:

I think people should only really be told when they're about 30, or given control over their medical things when they're about 30. The doctors should handle it before. (James)

They explained that 20 year olds do not prioritise health and intimated there was a burden inherent in deciding about your genome:

…most people in their 20s tend to go to parties or university, they either don’t want to or don’t have time to deal with important things

Children, however, recognised that maturity and intelligence, factors deemed important when taking responsibility for their genome, did not correspond with age:

I think cos we’re all different, we all do different things and we don’t all understand things, but some of us do. So it depends on if they're willing to, and if they can. (Max)

Throughout the discussion with children, the role of individual differences arose frequently regarding multiple aspects of WGS-NBS.

Conditional Views: Treatment-Availability

HYAs had a caveat that WGS-NBS results should lead to treatment and wanted to avoid knowing results without clear treatments. Some reflected from a personal stance whilst others did so from the family perspective:

…think about what those families might think if they knew they had a child that was going to develop something and there was absolutely nothing they could do…(C9)

All children, however, agreed that both treatable and untreatable results should be available: “I agree [all results should be returned], so that you can know what is expected.” (James).

Clear disparities existed between HYAs and children’s views.

Conditional Views: Condition-Severity

HYAs also had the caveat that WGS-NBS reported only severe conditions with some being clear what constitutes severe:

if it’s life threatening and the doctors know about it then they should definitely inform the parents […] it should depend on the severity of it. (D8)

HYAs feared that the return of mild results would cause unnecessary distress. Children preferred more results were provided to parents. One reflected on a pet allergy arguing it could be useful to know about before getting a pet. The only exception to this was if the condition would not affect the child whatsoever. One child defined this as a condition which would not cause pain, make the child feel abnormal, or limit daily activities.

…if it's not gonna affect them in the slightest then I don’t think they really need to know. But if it's gonna affect them slightly then it's always good to know in case it builds up. (Max)

Whether these views are being driven by their age, or their illness experience of being monitored was not clear.

Conditional Views: Condition-Onset

HYAs did not want results for late adulthood conditions, discussing Alzheimer’s and dementia unprompted.

“…if I found out I had like, I don’t know a predisposition for Alzheimer’s or something I would really not want to know right now at all.” (B2)

Regarding late-onset conditions, all HYA groups felt that unnecessary worry outweighed perceived benefits. Conversely, onset did not influence children’s views. Three children believed results for both adult- and child-onset conditions should be returned to parents to avoid concealing results. James preferred results were returned based on symptoms emerging to avoid parents overreacting. He did, however, also value the parents’ rights “if the parents wanna know then you should maybe consider telling them…” (James) suggesting a case-by-case approach which was also supported by the next eldest child.

Conditional Views: certainty

If a newborn would definitely develop the condition, HYAs wanted results available. For an uncertain diagnosis, all HYAs voiced concerns about triggering undue worry:

“if there’s only a small chance of them getting it I would rather wait until it actually happened rather than spending ages worrying about it.” (D7)

Similarly, HYAs did not want genetic predisposition results. One participant, specified common conditions influenced by lifestyle, citing cancer and dementia, as it provided limited additional information. The negative psychological impact of receiving uncertain results, or those regarding genetic predispositions, outweighed the benefits for many HYAs. Some children, however, believed all results should be returned regardless of certainty again trying to avoid concealment and distress:

I think they should be told because then they can prepare for the worst. Cos if they're not told, and it does happen, it's a sudden shock. (Max)

Children’s views towards previously discussed results remained constant throughout their discussion. However, during discussion of uncertain results, views of two children changed to enable parents to choose whether to receive uncertain results “I think it's okay if you want to know but if you don’t want to see then it's okay.” (James).

This study found that participants did not view WGS-NBS exclusively positively or negatively. Views were complex and evolved during discussions. Understandably, HYAs saw broader benefits and risks of WGS-NBS than children, for example by considering the societal implications. HYAs demonstrated greater personal conflict and complexity within their views as discussions evolved. Whilst children also counterbalanced perceived benefits and risks, they were more optimistic as found previously [17, 18] and their views were more stable.

All age groups valued early diagnosis and treatment, psychological and practical preparation, and improving prognosis. Risks identified included unnecessary parental-distress and treating children differently. These views align with those expressed by parents [7-9], the public [6], and children with rare diseases[10]. However, data storage issues, found previously [7-9] was only raised by one HYA in line with research with this age groups suggesting this is not a major concern[18]. Also our study participants focused more on how parents may view their child differently, than results altering how the screened individual views themselves.[17] The timing of genomic screening may explain this.

HYA collectively believed that results should be limited to certain, treatable, childhood-onset, severe conditions, in line with public [6] and parents’ views [7-9]. Children, however, were more concerned about concealment and later shock and wanted a broader range of results disclosed. This echoes research finding children’s wanting to know all about their genomic risk [26]. Our work may help explain this if they believe that not reporting all information is deception, rather than potentially avoiding harm.

HYAs wanted policy to standardise results returned and avoid subjectivity. This extends previous findings where participants also wanted policy-level involvement in WGS-NBS, but focused on avoiding privatisation of data [6]. Children’s views on this topic differed to HYAs. Children’s trust in doctors and belief in their proficiency were mentioned repeatedly in line with previous research [26]. Pandemic media portrayal of doctors as superheroes [27] and/or their own dependence on doctors might explain this. Alternatively, it could be that the concept of healthcare policy is not yet being salient for this age-group, and “doctors” representing all healthcare-actors. Children highlighted the importance of considering individual differences such as age, maturity and personal preferences as found in an older age group previously [17].

Both groups found existing and proposed consent models problematic. HYAs grappled with parental proxy consent and wanted parent-doctor collaboration in decision-making. A previous study with 13-18 year olds also found they preferred collaboration, albeit between parents-child and similarly found that participants highlighted the removal of their right to an open future.[17] When children considered what age they should make decisions about their genome, some chose ~ 16 years (the proposed age of re-consent in UK), whilst others felt this should be much older.

A strength of this study is the involvement of multi-disciplinary and multi-agency team, creating a design which enabled novel insights. Similar to participants in previous research [6], children were provided with information to consider in an age-appropriate format. This avoided challenges seen previously where limited knowledge about the topic curtailed participants’ ability to express an opinion [7]. Our approach allowed participants’ views to be elicited sensitively and monitoring to ensure misunderstandings did not cause distress. One child experiencing confusion, was able to raise this, and a team member tailored an explanation for them. Furthermore, HYAs participated first; acting as a feasibility study and enabling more sensitivity when working with children. Audio-failure for one child limited the dataset as their text responses were more concise. These were included in the analysis as a researcher verbalised their text and cross-checked meaning with them. One reason for caution in interpreting these results is that participants were responding to hypothetical scenarios before this screening becomes a reality, both facets have been shown to elicit more positive views suggesting engagement, than when decisions become reality.[17]

Children demonstrated greater variations in understanding and articulation resulting in some voices being presented more frequently than others. However, enabling this age-group to participate is crucial as they are the age at which parent are likely to start talking to their children about NBS results [15] and are approaching the WGS-NBS re-consent age. Whilst this study provides some insight into the views of children with CF, further research is urgently needed to understand how best to talk to and support children and young adults to make decisions about their genome’s storage and access. This study shows that children approaching this age can engage in such debates.

Acknowledgments: We wish to express our sincere thanks to all participants. Also we wish to thank the Cystic Fibrosis Trust staff without whom this work would not have been possible.

Authorship statement:

MB: analysed secondary data, co-wrote children’s study documentation and ethics paperwork, ran diary study and focus group and analysed data, prepared first draft.

FJ: designed WGS-NBS diary module, co-wrote children’s study documentation, prepared ethics paperwork, assisted with focus group data analyses.

RB: designed WGS-NBS diary information, co-facilitated children’s focus group

FU: secured funding for children’s study, supervised students, wrote HYA study documentation, co-wrote children’s study documentation, supervised ethics paperwork, designed WGS-NBS diary information, ran diary study, co-facilitated children’s focus group, assisted with all elements of analysis.

ALL: helped write manuscript.

Funding: phase 1: none – conducted as part of degree programme phase 2: funding from UKRI participatory research fund.

Competing interests: none

Ethical approval: Both phases of the study were approved by University of Manchester ethics committees.

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You are reading this latest preprint version

Views of children and young adults about Whole Genome Sequencing in Newborn Screening: A qualitative study

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Journal Publication

Version 1

Abstract

Figures

Introduction

Materials and Methods

Sampling

Data Collection

Analysis

Results

Diaries

FGs

Counterbalancing Views: To Know or Not?

Counterbalancing Views: Prepare or Risk Distress?

Counterbalancing Views: Increase Societal Health or Divide?

Roles and Responsibilities: Policy Level Decisions

Roles and Responsibilities: Parent-Doctor Collaboration

Roles and Responsibilities: Newborn’s Inability to Consent

Roles and Responsibilities: Age and WGS Responsibility

Conditional Views: Treatment-Availability

Conditional Views: Condition-Severity

Conditional Views: Condition-Onset

Conditional Views: certainty

Discussion

Declarations

References

Additional Declarations

Status:

Journal Publication

Version 1