Carrier testing in minors: a systematic review of guidelines and position papers

Borry, Pascal; Fryns, Jean‐Pierre; Schotsmans, Paul; Dierickx, Kris

doi:10.1038/sj.ejhg.5201509

Cited by 100 publications

(89 citation statements)

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“…30,31,34,36,37,39,42 Implications for future research Although this review suggests that a majority of publications do not indicate a substantial impact of genetic testing on children's psychosocial wellbeing, most position statements recommend against the testing of children. 1,2 This difference is likely because of the serious limitations of the current evidence and a tendency of health care organizations to take a precautionary stance with respect to potential harms, 49 particularly when children are involved.…”

Section: Discussionmentioning

confidence: 99%

“…This review will address the following questions: (1) what is the scope of the literature examining the impact of genetic testing on children's psychosocial wellbeing? and (2) does evidence suggest that genetic testing influences children's emotional states, self-perception, or social wellbeing?…”

Section: Overviewmentioning

confidence: 99%

“…Although diagnostic genetic testing for childhood-onset conditions is standard practice, consensus has emerged among existing professional guidelines that children typically should not undergo predictive or carrier genetic testing unless there is a clear health benefit. 1,2 Nonetheless, this issue has continued to raise controversy, in part because parents and children often express interest in obtaining genetic testing. [3][4][5][6][7] Advances in knowledge about genetics will magnify this debate, given that new genetic tests could be applicable to the whole population and complement existing prenatal, newborn, and pediatric testing practices aimed at the primary prevention of adult-onset health conditions.…”

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confidence: 99%

“…Concerns have been raised that such knowledge could interfere with children's expectations for future parental roles, causing distress or negatively influencing self-concept. 1,27 In the case of predictive testing, where genetic tests indicate increased personal risk for a future disease state (e.g., adult-onset cancer), potential harms are that the test results might diminish a child's expectations of health and wellbeing, increase distress, or negatively alter life choices. 2,14,21 In both the cases, the impact of testing is likely to be complex.…”

mentioning

confidence: 99%

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Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

Wade

Wilfond

McBride

2010

Genetics in Medicine

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Purpose: As advances in research have made a growing number of genetic tests available, clinicians will increasingly be faced with making decisions about when offering genetic testing services to children is appropriate. A key factor in such decisions involves determining whether knowledge of genetic health risks might have an impact on children's psychosocial wellbeing. Methods: We conducted a systematic review of the literature using five online databases to identify studies that assessed the impact of communicating nondiagnostic carrier or presymptomatic genetic test results to children. Results: A total of 17 articles met the inclusion criteria for this review. These studies used a wide range of methodologies to explore carrier and predictive testing. Although there was little quantitative evidence that receiving genetic test results led to a significant impact on children's psychosocial wellbeing, it was found that methodological inconsistencies, small samples, and reliance on assessments most appropriate for psychopathology make any firm conclusions about the impact of genetic testing on children premature. Conclusion: Currently, there is insufficient evidence to inform a nuanced understanding of how children respond to genetic testing. This suggests a strong need for further research that uses rigorous approaches to address children's emotional states, self-perception, and social wellbeing. Genet Med 2010:12(6):317-326.

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Section: Discussionmentioning

confidence: 99%

Section: Overviewmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

Wade

Wilfond

McBride

2010

Genetics in Medicine

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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%

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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Genetic Carrier Testing

Henneman

Cornel

2009

Encyclopedia of Life Sciences

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Genetic carrier testing includes tests for the heterozygous status of an inherited disorder in individuals who, although apparently healthy themselves, have a high risk of transmitting the genetic disorder to their offspring. Carrier testing will allow couples of childbearing age to make informed reproductive decisions. Genetic carrier tests are used by people who have a family history of an inherited disorder or carriership, reproductive partners of carriers and partners of individuals who have the disorder. A prerequisite for knowledge about a possible risk for relatives and the availability of testing is the dissemination of information in the family. Many factors impede the sharing of genetic information in families including lack of knowledge, persistent lay beliefs or poor relationships. In addition, several factors have been identified that interfere with decisions about genetic carrier testing, resulting in low uptake rates for carrier tests in high risk families. Key concepts Reproductive planning is the most important factor motivating genetic carrier testing. Family disclosure of genetic information is a prerequisite to knowledge about the risk and availability of carrier testing. Because of factors impeding the sharing of information in families and factors interfering with the decision about testing, the uptake for carrier testing in high‐risk families is often lower than expected. To minimize (time) constraints and maximize reproductive options, carrier testing before conception is advocated.

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Carrier testing in minors: a systematic review of guidelines and position papers

Cited by 100 publications

References 11 publications

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

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

Genetic Carrier Testing

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