Stability of Attitudes to the Ethical Issues Raised by the Return of Incidental Genomic Research Findings in Children: A Follow-Up Study

Fernandez, Conrad V.; O’Connell, Colleen; Ferguson, Meghan; Orr, Andrew; Robitaille, Johane; Knoppers, Bartha Maria; McMaster, Christopher R.

doi:10.1159/000439244

Cited by 15 publications

(14 citation statements)

References 44 publications

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“…This prompted retrospective comparison (during data analysis) of SF decisions made at the time of consent. In contrast to a survey study by Fernandez et al,29 which reported no difference in views towards return of SF over an 18-month period, half of our interviewees who felt they would decline SF had originally consented to receive them. This raises questions as to whether their views have since changed or whether the decision at consent was representative of their wishes.…”

Section: Discussioncontrasting

confidence: 92%

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

et al. 2018

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With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results—including secondary findings (SF)—are being returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views of stakeholders be considered—including participants who have made decisions about SF since the wider debate began. We conducted semi-structured interviews with sixteen rare disease patients and parents enroled in genome sequencing to explore views towards SF. Informed by extensive contact with the healthcare system, interviewees demonstrated high levels of understanding of genetic testing and held pragmatic views: many are content not knowing SF. Interviewees expressed trust in the system and healthcare providers, as well as an appreciation of limited resources; acknowledging existing disease burden, many preferred to focus on their primary condition. Many demonstrated an expectation for recontact and assumed the possibility of later access to initially declined SF. In the absence of such an infrastructure, it is important that responsibilities for recontact are delineated, expectations are addressed, and the long-term impact of decisions is made clear during consent. In addition, some interviewees demonstrated fluid views towards SF, and suggestions were made that perceptions may be influenced by family history. Further research into the changing desirability of SF and behavioural impact of disclosure are needed, and the development and introduction of mechanisms to respond to changes in patient views should be considered.

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Section: Discussioncontrasting

confidence: 92%

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

et al. 2018

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“…1-03), or "genetic accident" (mother, no. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. The question of the meaning of the result was raised by some parents: "the much talked about gene is called XXXX (the name of the gene), or something During the interview, parents who obtained a diagnosis for their children very often expressed satisfaction (group 1, positive results).…”

Section: Post-es Experiences Of Parents-the Qualitative Studymentioning

confidence: 99%

“…(father, no. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. For half of group 1 (positive result), even when a diagnosis was made, a feeling of helplessness and uncertainty persisted.…”

Section: Post-es Experiences Of Parents-the Qualitative Studymentioning

confidence: 99%

“…Studies on the point of view of patients, their parents/families, and health professionals have reported mainly favorable attitudes towards the genomic information ES can yield. Concerning SFs, most patients (or parents/families) would prefer the information to be made available, particularly when it concerns not only preventable or treatable diseases, but also incurable diseases [12][13][14][15][16][17][18][19]. Parents are also in favor of receiving information about VUS possibly linked to their child's disease [14,19].…”

Section: Introductionmentioning

confidence: 99%

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Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

et al. 2019

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Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these. To explore these issues in parents of children with developmental disorders and no diagnosis with known etiology, a multidisciplinary group of researchers from social and behavioral sciences and patient organizations conducted a mixed-methodology study (quantitative and qualitative) in two centers of expertise for rare diseases in France. The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents wished to have exhaustive information, including variants of unknown significance possibly linked to their child's disorder and secondary findings. This desire for information could be a strategy to maximize the chances of obtaining a diagnosis. The qualitative study aimed to understand the expectations and reactions of 57 parents interviewed just after the return of ES results. In-depth analysis showed that parents had ambivalent feelings about the findings whatever the results returned. The contrasting results from these studies raise questions about the value of the information provided and parents' high expectations regarding the results. The nature of parental expectations has emerged as an important topic in efforts to optimize accompaniment and support for families during the informed decision-making process and after disclosure of the results in an overall context of uncertainty.

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“…As genomic research may provide clinical findings about both child-onset and adult-onset genetic diseases, it is important to consider the child’s future and right to know and not to know. Respecting the right to an open future means that the child can make his or her own autonomous decisions when reaching adulthood [ 10 , 14 , 27 , 43 , 44 ]. Feinberg [ 45 ] holds that children have a right, while they still are children, to remain ignorant of disease predisposition until they reach adulthood, presumably capable of making a well-informed decision.…”

Section: Discussionmentioning

confidence: 99%

Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research

Sundby

Boolsen²,

Burgdorf

et al. 2018

Hum Genomics

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BackgroundGenomic sequencing of children in research raises complex ethical issues. This study aims to gain more knowledge on the attitudes towards the inclusion of children as research subjects in genomic research and towards the disclosure of pertinent and incidental findings to the parents and the child.MethodsQualitative data were collected from interviews with a wide range of informants: experts engaged in genomic research, clinical geneticists, persons with mental disorders, relatives, and blood donors. Quantitative data were collected from a cross-sectional web-based survey among 1227 parents and 1406 non-parents who were potential stakeholders in psychiatric genomic research.ResultsParticipants generally expressed positive views on children’s participation in genomic research. The informants in the qualitative interviews highlighted the age of the child as a critical aspect when disclosing genetic information. Other important aspects were the child’s right to an autonomous choice, the emotional burden of knowing imposed on both the child and the parents, and the possibility of receiving beneficial clinical information regarding the future health of the child. Nevertheless, there was no consensus whether the parent or the child should receive the findings. A majority of survey stakeholders agreed that children should be able to participate in genomic research. The majority agreed that both pertinent and incidental findings should be returned to the parents and to the child when of legal age. Having children does not affect the stakeholder’s attitudes towards the inclusion of children as research subjects in genomic research.ConclusionOur findings illustrate that both the child’s right to autonomy and the parents’ interest to be informed are important factors that are found valuable by the participants. In future guidelines governing children as subjects in genomic research, it would thus be essential to incorporate the child’s right to an open future, including the right to receive information on adult-onset genetic disorders.

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Stability of Attitudes to the Ethical Issues Raised by the Return of Incidental Genomic Research Findings in Children: A Follow-Up Study

Cited by 15 publications

References 44 publications

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research

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