Technical report: ethical and policy issues in genetic testing and screening of children

Ross, L F; Saal, Howard M.; David, Karen L.; Anderson, Ray C.

doi:10.1038/gim.2012.176

Cited by 397 publications

(314 citation statements)

References 108 publications

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“…6,[16][17][18] In contrast, some US states have legislation requiring explicit consent, whereas others institute an opt-out approach. [19][20][21] Other jurisdictions, such as the United Kingdom, offer NBS strictly on an informed choice basis. 22 Disparities between jurisdictions with regard to the need for explicit consent, ongoing discussion regarding the provision of information about NBS before sample collection and what level of understanding is necessary to ensure informed consent have renewed research interest in informed consent practices.…”

Section: Introductionmentioning

confidence: 99%

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

et al. 2016

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Consent processes for newborn bloodspot screening (NBS) are variable, with a lack of descriptive research that depicts how the offer of NBS is made to parents. We explored the experience, in practice, of consent for NBS. Semistructured interviews in two Canadian provinces were held with: (1) parents of children offered NBS (n = 32); and (2) health-care professionals involved in the NBS process (n = 19). Data on recollections of NBS, including consent processes, were utilized to identify emerging themes using the method of constant comparison. Three themes were relevant to NBS consent: (1) The 'offer' of NBS; (2) content and timing of information provision; and (3) the importance of parental experiences for consent decisions. Recollections of consent for NBS were similar between jurisdictions. Excepting midwives and their patients, NBS was viewed as a routine part of giving birth, with little evidence of an informed consent process. Although most parents were satisfied, all respondents suggested information about NBS be provided long before the birth. Accounts of parents who declined screening highlight the influence of parental experiences with the heel prick process in screening decisions. Findings further our understanding of consent in practice and highlight areas for improvement in parent-provider interactions.

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Section: Introductionmentioning

confidence: 99%

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

et al. 2016

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“…International guidelines discourage childhood carrier testing on the premise that carrier identification may cause psychosocial harm, 1 remove the child's future autonomous decision making about when and whether to be tested, [2][3][4] and has no immediate reproductive relevance 1 or medical benefit to the child. 2 The argument for postponing testing becomes problematic when there are possible health consequences of a carrier status, 2 for example, in the case of sickle cell trait (SCT), which confers rare possible clinical associations including haematuria, hyposthenuria, and exertional rhabdomyolysis due to hypoxia.…”

Section: Introductionmentioning

confidence: 99%

“…2 The argument for postponing testing becomes problematic when there are possible health consequences of a carrier status, 2 for example, in the case of sickle cell trait (SCT), which confers rare possible clinical associations including haematuria, hyposthenuria, and exertional rhabdomyolysis due to hypoxia. 5 However, clinical complications are contentious 6,7 and there is little evidence that the implications require early SCT identification.…”

Section: Introductionmentioning

confidence: 99%

A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status

et al. 2015

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European guidelines recommend that, unless there are clear benefits of autosomal recessive carrier testing in childhood, it should be deferred to protect children's autonomous decision making. Although it is believed that children receive testing in the United Kingdom, it is unclear how or why professionals make decisions to provide tests. Semi-structured interviews were conducted with 25 professionals in the United Kingdom who advise about, and undertake, childhood sickle cell trait testing. Data were analysed using thematic analysis. Few professionals were aware of, or used, guidelines to inform testing decisions and instead, considered the reproductive and clinical relevance of testing, and autonomous rights of parents. Many professionals believed testing was important and readily offered it to parents. Professionals who discouraged testing were met with parental resistance and often provided testing when conflict was difficult to manage. Children were rarely considered to be capable of making decisions and few were engaged in discussions. When consulted, older children demonstrated interest, but younger children usually declined testing. Wide variation in testing advice emerged because of opposing beliefs about children's best interests and potential benefits or harms of testing. An explanation of how children's best interests should be determined in light of conflicting evidence regarding the psychosocial and clinical implications of carrier status is needed. Improved awareness of guidelines might encourage professionals to support the role of children in testing decisions. Strategies are also required to help professionals determine children's cognitive capacity and to protect children's future autonomy during discussions with persistent parents.

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“…20,21 The ICOB policies endorse the American Academy of Pediatrics/ACMG core recommendation not to return information about adult-onset nontreatable diseases but recognize that exceptions to this presumption might need to be made on a case-by-case basis. The ICOB guidelines are also consistent with the American Academy of Pediatrics/ACMG statement, recognizing that there may be tension between the family dynamic and the child's future autonomy.…”

Section: Discussionmentioning

confidence: 99%

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

Holm

Savage

Green

et al. 2014

Genetics in Medicine

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Technical report: ethical and policy issues in genetic testing and screening of children

Cited by 397 publications

References 108 publications

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

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