Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

Borry, Pascal; Stultiëns, Loes; Nys, Herman; Cassiman, Jean‐Jacques; Dierickx, Kris

doi:10.1111/j.1399-0004.2006.00692.x

Cited by 226 publications

(205 citation statements)

References 24 publications

Supporting

Mentioning

191

Contrasting

Unclassified

Order By: Relevance

“…On the other hand, the goals of genetic service should ultimately be to improve long-term health status (Wang et al 2004). Few consequences might question the direct benefit patients achieve through predictive testing as minors, as proposed by ethical guidelines (Borry et al 2006).…”

Section: Discussionmentioning

confidence: 99%

“…These reports indicate that AIP might have serious consequences for those involved and that there is a need for further investigations of the psychosocial aspects of this disease. Borry et al (2006) analysed 27 papers from 1991 to 2005 that addressed the issue of guidelines for predictive testing of minors. The main reason for recommending such testing was the direct benefit the patient could achieve through medical treatment or prevention of disease.…”

Section: Previous Researchmentioning

confidence: 99%

See 1 more Smart Citation

Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

et al. 2011

View full text Add to dashboard Cite

Objective: The Norwegian Porphyria Centre routinely offers genetic counselling and predictive genetic testing in families diagnosed with porphyria. The aim of this study was to investigate the subjective experiences of adolescents and young adults who were genetically tested for acute intermittent porphyria (AIP) as minors. What were the psychosocial consequences and how were these handled?Methods: Qualitative interviews of ten Norwegians aged 16-21 years were performed and analysed based on interpretive description. All participants were initially predictively tested for AIP as minors, but three had subsequently developed manifest disease.Results: The participants considered early diagnosis and lifestyle moderation advantageous, but finding motivation for precaution was difficult. AIP inflicted few psychosocial challenges and was a small part of the participants' identity, but risk of manifest disease was, nevertheless, a cause for concern for two participants with latent AIP. The participants were content with their present level of knowledge and they felt capable of obtaining relevant information when needed. AIP was experienced as a vague condition, and participants and their relatives attributed a variety of symptoms to the disease. Conclusion and implications:Being genetically tested as a minor was experienced as useful and entailed relatively few adverse psychosocial consequences, although there was a potential for concern. Appropriate and individually tailored genetic counselling and written consent is subsequently advised. What constitutes a suitable age for testing will differ from individual to individual, but these results suggest that parents in collaboration with their children may be suited to decide what age is appropriate.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Previous Researchmentioning

confidence: 99%

Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

et al. 2011

View full text Add to dashboard Cite

show abstract

“…11 The possibility of a medical benefit of genetic testing is one of the most important justifications for performing genetic testing in a minor. 18 Genetic testing in childhood may also allow the opportunity for early psychological adjustment and the ability to alert other family members (i.e., siblings, parents, cousins) to hereditary risk. 10,19 Conversely, an important justification for postponing testing until the minor is of an age more appropriate for making a fully informed personal decision is the absence of any potential medical benefit.…”

mentioning

confidence: 99%

“…10,19 Conversely, an important justification for postponing testing until the minor is of an age more appropriate for making a fully informed personal decision is the absence of any potential medical benefit. 18 The implications of pediatric genetic testing differ by condition. Some conditions can affect children during early childhood (necessitating early testing), whereas others affect older children and young adults (allowing testing to be postponed until an older age).…”

mentioning

confidence: 99%

The psychological impact of genetic information on children: a systematic review

Wakefield

Hanlon

Tucker

et al. 2016

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: This review assessed the psychological impact that acquiring personal and familial genetic information has on children. We also examined the concordance between the available empirical data and clinical guidance/perspectives articles. Methods:We screened 591 abstracts and identified 13 studies, representing 966 children. Ten studies assessed 386 children tested for familial adenomatous polyposis (n = 171), hereditary cardiac disease (n = 134), and other conditions (n = 81). Three studies addressed the impact of BRCA1/2 testing of a family member on 580 children.Results: Serious adverse psychological outcomes were uncommon. Most studies reported no significant increase in mean anxiety, depression, and distress scores (n = 8, 61.5%); however, some children experienced intrafamilial distress, discrimination, and guilt/regret. Some children were more concerned about their own health or their family members' health. There was limited consistency between anticipated adverse impact and empirical data. Conclusions:The review identified little conclusive evidence of deleterious psychological consequences for children acquiring genetic information. However, there is a lack of data regarding genetic testing for conditions that may not be treatable/modifiable, as well as a dearth of longitudinal studies. Therefore, clinical caution remains essential for the ethical integration of genetic testing into pediatrics. Further research assessing the potential positive and negative effects of genetic testing in childhood is warranted.

show abstract

“…[1][2][3][4][5] Recently revised guidelines specific to the testing of HD recommend that predictive testing not take place until an individual reaches the age of majority. 6,7 More than two decades since the publication of the first guidelines, considerable disagreement between commentators remains.…”

mentioning

confidence: 99%

“It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions

Mand

Gillam

Duncan

et al. 2013

Genetics in Medicine

View full text Add to dashboard Cite

Original research articlePredictive genetic testing for adult-onset conditions, such as Huntington disease (HD) and some familial cancers, is available to adults at risk. Conversely, there is ongoing controversy with regard to testing young people, specifically those younger than 18 years, who are at risk for adult-onset genetic conditions for which there are no effective medical interventions available before adulthood.International guidelines recommend that testing be deferred until an individual is competent to make an informed, autonomous decision regarding testing. [1][2][3][4][5] Recently revised guidelines specific to the testing of HD recommend that predictive testing not take place until an individual reaches the age of majority. 6,7 More than two decades since the publication of the first guidelines, considerable disagreement between commentators remains. 8 The ethical debate concerning predictive genetic testing in young people has become mired in a conflicting set of opinions, assumptions, and speculation, with little relevant evidence to inform these. 9 Two overarching concerns dominate the arguments against predictive genetic testing in young people: (i) young people lack the competence to comprehend the significance of a predictive genetic test and may regret their decision later in life, and (ii) young people who receive a gene-positive test result (the presence of the relevant family mutation) are at risk of adverse psychosocial consequences. This debate is situated within a context of knowledge that most adults at risk for HD choose not to undergo predictive genetic testing. 10 There have been numerous studies reporting the effects of predictive testing for childhood-onset conditions such as familial adenomatous polyposis 11-14 and the effects of predictive testing in adults for adult-onset conditions. 15-21 Conversely, few studies have examined the impact of testing on young people, and none have specifically considered minors tested for adult-onset conditions. An international survey in 2005 showed that some clinicians are providing predictive tests to minors in particular circumstances; 22 however, the outcomes are poorly studied.The current study aimed to (i) gauge the impact on young people of predictive testing before 18 years, (ii) identify factors that mediate the testing experience, and (iii) assess whether evidence exists to support the central concerns raised in the existing literature with respect to testing young people. The study addressed only self-initiated requests by adolescents, not young children. METHODSParticipants were recruited from two Australian states. At the time of data collection, 10 individuals had undergone predictive testing for an adult-onset condition before the age of 18 years in these two states. Nine agreed to participate. The tenth was unable to do so because he was traveling.In one state, all the young people had instigated testing by requesting a test themselves. In the other state, some young people received a letter outlining testing options for them. ...

show abstract

Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

Cited by 226 publications

References 24 publications

Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

The psychological impact of genetic information on children: a systematic review

“It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions

Contact Info

Product

Resources

About