Carrier Testing of Children for Two X-Linked Diseases: A Retrospective Study of Comprehension of the Test Results and Social and Psychological Significance of the Testing

Järvinen, Outi; Lehesjoki, Anna‐Elina; Lindlöf, Mikael; Uutela, Antti; Kääriäinen, Helena

doi:10.1542/peds.106.6.1460

Cited by 34 publications

(40 citation statements)

References 22 publications

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“…These studies reported that a further 13% 40 and 4% 37 of children described positive influences on their lives. Meulenkamp et al 41 reported that 15% of children in their study reported worrying about their hereditary predisposition to cardiovascular disease, whereas 90% of children at risk for hereditary risk of acute intermittent porphyria reported that knowledge of their personal risk status had no effect on their educational, occupational, or social lives.…”

Section: Quality Of Life and Behaviormentioning

confidence: 99%

“…Two studies reported that 78% of children tested for two X-linked diseases 40 and 84% of children tested for Aspartylglucosaminuria risk 37 perceived that genetic testing had no impact on their quality of life. These studies reported that a further 13% 40 and 4% 37 of children described positive influences on their lives.…”

Section: Quality Of Life and Behaviormentioning

confidence: 99%

“…37 In another study of X-linked conditions, all children reported not being treated differently by their siblings because of their Duchenne muscular dystrophy or Hemophilia A carrier status. 40 …”

Section: Familial Interactionsmentioning

confidence: 99%

“…28 Anxiety similar to baseline at follow-up 34 and few reported worrying about their predisposition. 41 Majority reported no change in educational, occupational, or social plans 42 Many (84% 37 and 78%) 40 reported no influence of testing on their lives, with few 37,40 reporting positive influences Negatives Third-party stigmatization or discrimination from third parties (educational, employment, or insurance) 3,16,17,29,43,45,46 Ten percent denied acceptance to education; 20% deemed medically unfit for employment 42 Survivor guilt (whereby sibling may become separated or withdrawn from another sibling due to test outcome). 3,16,29,44,47 Guilt due to genetic abnormality.…”

Section: What Is the Concordance Between Empirical Data On The Impactmentioning

confidence: 99%

“…3,16,29,44 May upset emotional equilibrium of family 47 Eleven percent distressed after learning genetic status from parents 33 and 44% felt treated differently by parents, 37 but none felt differently treated by siblings. 40 Daughters of mothers tested for BRCA1/2 worried more about developing breast cancer 26 Harm to child's self-concept, 16,17,29 selfesteem, 29,44,46,47 self-worth (due to perceived failure to meet parent's expectations), 16,47 and self-image 27 Self-esteem normal at follow-up, despite results. 28,41 Genetic results only reported to comprise a "small part" of child's identity 42 Increased anxiety over the child's future health 3,16,27,43,45,47 Fifty-five percent worried a "fair amount" or more that they would get cancer in the future.…”

Section: What Is the Concordance Between Empirical Data On The Impactmentioning

confidence: 99%

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

Wakefield

Hanlon

Tucker

et al. 2016

Genetics in Medicine

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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.

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Section: Quality Of Life and Behaviormentioning

confidence: 99%

Section: Quality Of Life and Behaviormentioning

confidence: 99%

Section: Familial Interactionsmentioning

confidence: 99%

Section: What Is the Concordance Between Empirical Data On The Impactmentioning

confidence: 99%

Section: What Is the Concordance Between Empirical Data On The Impactmentioning

confidence: 99%

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

Wakefield

Hanlon

Tucker

et al. 2016

Genetics in Medicine

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Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition

et al. 2022

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H owpeopleinterpretandrespondtoadiagnosisaftergenetic testing is key to tailoring genetic counseling to optimize patient outcomes. The increasing application of genome sequencing (GS) has been associated with the diagnosis of a genetic condition in a growing number of individuals, including adolescents. 1 Genetic counseling is recommended for those who are considering undergoing GS. 2 Genetic counseling is defined as "the process of helping people understand and adapt to the medical, psychological, and familial implications of the genetic contributions to disease. The process integrates: interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; education about inheritance,testing,management,prevention,resourcesandresearch;coun-seling to promote informed choices and adaptation to the risk or condition. "3(p77) Children and adolescents warrant special consideration regarding genetic testing to ensure that informed consent is obtained and the necessary subjective, surrogate decision-makers are involved. 4 Little is known about the needs of adolescents with a genetic condition with regard to their experience of clinical genetic services, including genetic counseling and GS. Adolescence is a critical period, during which the task of identity development (ie, establishing selfknowledge and independence, and acquiring a sense of belonging 5 ) occurs. 6 Aspects of gender, religion, ethnicity, nationality, culture, and class coalesce to inform a person's sense of social identity. 7 The IMPORTANCE The number of adolescents who are diagnosed with a genetic disorder is increasing as genome sequencing becomes the standard of clinical diagnostic testing. However, the experience of receiving a diagnosis of a genetic condition has not been extensively studied in adolescents.OBJECTIVE To identify how adolescents with a genetic condition engage with genetic or genomic counseling services as well as interpret, adapt to, and experience their diagnosis.EVIDENCE REVIEW A literature search of MEDLINE, Embase, CINAHL, and PsycINFO was undertaken. Articles (primary literature, knowledge syntheses, and gray literature) in English that investigated the experiences of adolescents between 10 and 19 years of age who received genetic or genomic counseling were included. Data were extracted from 45 eligible articles and analyzed descriptively. FINDINGS A total of 45 studies were included, most of which were quantitative in nature (21 of 45 [47%]) and conducted in the US (n = 13), followed by the UK (n = 8), Australia (n = 8), and Canada (n = 6). A total of 29 distinct monogenic disorders were investigated. Sample sizes ranged from 1 to 930, with a median of 23 participants, and the year of publication ranged from 1977 to 2019. Included studies addressed all aspects of genetic counseling, but a preponderance of articles assessed knowledge about genetic conditions (n = 17) and challenges of communication within families (n = 16). Fewer articles addressed the experiences of adolescents adapting to t...

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Testing Children for Genetic Carrier Status

Vears

2017

Encyclopedia of Life Sciences

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A number of studies have shown that some parents of children with a genetic condition are interested in knowing the carrier status of their other, unaffected children. The majority of international guidelines suggest that carrier testing in childhood is inappropriate and should be delayed until the child reaches the age of majority. These recommendations are often based on theoretical concerns and ethical considerations as there is a lack of evidence in the literature that performing carrier testing in childhood leads to any psychosocial harm. There is also evidence that carrier testing does take place in some circumstances. The different guidelines and position statements of professional bodies regarding carrier testing in childhood are reviewed. The views of both health professionals and parents about whether carrier testing is appropriate are described, along with the current evidence regarding the psychosocial impacts of performing carrier testing in children. Key Concepts The majority of international guidelines recommend against carrier testing in childhood. Despite the guidelines, carrier testing does take place in some children in the context of an affected sibling. Health professionals' willingness to test children for carrier status depends on a range of different factors, including the genetic condition. Some parents want to know the carrier status of their unaffected children following the diagnosis of an affected child. Parents express a range of motivations for desiring this information, although many want to communicate the carrier information to their child. Currently there is no evidence of harm from performing carrier testing in childhood, although further research is warranted.

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Carrier Testing of Children for Two X-Linked Diseases: A Retrospective Study of Comprehension of the Test Results and Social and Psychological Significance of the Testing

Abstract: Carrier testing was in most cases correctly understood and the matter openly discussed. Our results do not suggest that testing in childhood had caused serious harm to the young individuals tested. On the other hand, we found no obvious benefits from this early testing.

Cited by 34 publications

References 22 publications

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

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

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition

Testing Children for Genetic Carrier Status

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