Predictive genetic testing in minors for adult‐onset genetic diseases

Borry, Pascal; Goffin, Tom; Nys, Herman; Dierickx, Kris

doi:10.1002/msj.20038

Cited by 39 publications

(58 citation statements)

References 31 publications

(24 reference statements)

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“…Unless there were pressing medical reasons for testing, all 27 papers proposed that one should postpone testing until the child could consent. There are few reports concerning predictive testing in minors for adultonset conditions (Borry et al 2008;Wade et al 2010), and it is important to investigate whether young persons benefit from the information such testing yields, and whether risk information causes psychosocial harm to young persons genetically tested for AIP.…”

Section: Previous Researchmentioning

confidence: 99%

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

et al. 2011

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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.

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Section: Previous Researchmentioning

confidence: 99%

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

et al. 2011

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“…1 Presymptomatic genetic testing of minors (under the age of 18 years) is not usually recommended unless effective clinical actions are available. [2][3][4] Generally, there are three key arguments against presymptomatic genetic testing in adolescents or young people: that it (1) fails to respect the future autonomy of the young person; (2) breaches confidentiality; and (3) may cause psychosocial harms. 5 The age at which young people should undergo presymptomatic genetic testing for adult-onset disorder is a matter of debate.…”

Section: Introductionmentioning

confidence: 99%

“…5 The age at which young people should undergo presymptomatic genetic testing for adult-onset disorder is a matter of debate. [2][3][4][5] Key challenges have to be faced during the transition from adolescence to adulthood, such as marriage, finishing education, beginning full-time employment and becoming a parent, and the impact of testing may affect, and be affected by each of these events. In the light of the above-mentioned issues, it would be appropriate to ask what health information and counselling young adults need to make prudent decisions about genetic testing.…”

Section: Introductionmentioning

confidence: 99%

Impact of presymptomatic genetic testing on young adults: a systematic review

et al. 2015

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Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future lives. The aim of this integrative systematic review was to assess factors that influence young adults' or adolescents' choices to have a presymptomatic genetic test and the emotional impact of those choices. Peer-reviewed papers published between January 1993 and December 2014 were searched using eight databases. Of 3373 studies identified, 29 were reviewed in full text: 11 met the inclusion criteria. Thematic analysis was used to identify five major themes: period befeore testing, experience of genetic counselling, parental involvement in decision-making, impact of test result communication, and living with genetic risk. Many participants grew up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Emotional outcomes of disclosure did not directly correlate with test results: some mutation carriers were relieved to know their status, however, the knowledge they may have passed on the mutation to their children was a common concern. Parents appeared to have exerted pressure on their children during the decision-making process about testing and risk reduction surgery. Health professionals should take into account all these issues to effectively assist young adults in making decisions about presymptomatic genetic testing.

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“…With respect to the presymptomatic and predictive genetic testing of children, in general, guidelines recommend that the availability of therapeutic or preventive measures are necessary for testing to be performed in asymptomatic minors. 26,27 In order to protect the privacy and confidentiality of genetic information and the minor's right not to know, it is suggested that testing asymptomatic children when there is no urgent medical need, be postponed until a minor can participate in the decision-making process. 26,27 We have previously studied the issue of DTC GT for health-related traits in children by conducting a content analysis of DTC GT companies' websites.…”

Section: Introductionmentioning

confidence: 99%

“…26,27 In order to protect the privacy and confidentiality of genetic information and the minor's right not to know, it is suggested that testing asymptomatic children when there is no urgent medical need, be postponed until a minor can participate in the decision-making process. 26,27 We have previously studied the issue of DTC GT for health-related traits in children by conducting a content analysis of DTC GT companies' websites. 20,21 In our most recent study, results showed that of the 29 companies studied; almost a third of companies perform genetic testing in minors upon parental request.…”

Section: Introductionmentioning

confidence: 99%

Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?

2011

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The genetic testing of minors within the direct-to-consumer (DTC) genetic testing (GT) context has been given relatively little attention. The issue of testing healthy children for diseases that would only develop in adulthood raises many important ethical, legal and social issues. As genetic testing is now available outside of the traditional health care system, often without even the intermediate of a health care professional, we surveyed 37 DTC GT companies regarding their policies for testing in children. Although the response rate is relatively low (35%, 13/37), our findings reveal that a clear majority of companies do perform genetic testing in minors. As such, companies testing for adult onset diseases are acting in contradiction of established professional guidelines, which state, among others, that, for predictive genetic testing, the availability of therapeutic or preventive measures is necessary for testing to be performed in asymptomatic minors. The community of stakeholders in children's health care and genetic testing should, therefore, decide which standards need to be upheld by DTC GT companies and ensure that these are met.

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Predictive genetic testing in minors for adult‐onset genetic diseases

Cited by 39 publications

References 31 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

Impact of presymptomatic genetic testing on young adults: a systematic review

Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?

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