Why tell asymptomatic children of the risk of an adult-onset disease in the family but not test them for it?

Malpas, Phillipa

doi:10.1136/jme.2005.015370

Cited by 24 publications

(30 citation statements)

References 19 publications

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“…The risk of mental illness in 22q11DS is similar to some familial risks (e.g., a parent with schizophrenia) for which counseling would usually be provided. 69 It is important to note that risk of mental illness should be included in counseling, because families will find out about the risk through other means, 70 and there are potential benefits to knowing the risk of mental illness. It is generally accepted that intervention early in the course of schizophrenia is more effective and has better outcomes than intervention later in the disease progression 71 ; therefore, awareness of the risk may make families more able to seek help when signs first appear, which could result in better outcomes.…”

Section: Risksmentioning

confidence: 99%

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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Abstract:The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and prevalence, clinical features, and prognosis of 22q11 deletion syndrome and other issues related to newborn screening. Severe complications that could potentially be helped by screening include cardiac defects in 80% (with 20% having no outward signs to aid detection), hypocalcemia that can lead to seizures in 20% (though hypocalcemia is routinely investigated in sick newborns), and severe immune deficiency in Ͻ1% (which would be identified by some states' severe combined immunodeficiency screens). Other benefits that do not fit traditional goals of newborn screening include treatment for complications such as failure to thrive and developmental delay or preventing a "diagnostic odyssey." Although universal screening may prove the incidence to be Ͼ1:5000, undetected life-threatening effects occur in a minority of 22q11 deletion syndrome patients. Concerns include an untested screening technique, difficulty obtaining results in time for cardiac intervention, the chance of "vulnerable child syndrome" in mild cases, and possibly detecting congenital heart disease more efficiently by other means. Because addition of tests for highly variable conditions such as 22q11 deletion syndrome is likely to set a precedent for other syndromes, reevaluation of newborn screening criteria should be considered. Genet Med 2010:12(3):135-144.

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Section: Risksmentioning

confidence: 99%

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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“…Also, revealing such information to children later in adulthood requires them to rethink their self-identity, which may affect their life expectations and aspirations, whereas a younger child has the opportunity to incorporate the genetic information into their selfidentity. 2 Parents delaying discussion of the genetic condition and its implications, risk their child's resentment and anger, which can seriously damage the family's relationships and, consequently, undermine its support structures. 3,4 Research into family communication about genetic conditions mainly focuses on the reasons for and against genetic testing of children while minors.…”

Section: Introductionmentioning

confidence: 99%

Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research

et al. 2008

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In families affected by an inherited genetic condition, parents face a difficult task of having to communicate genetic risk information to their children. A systematic review of all major health and medical research databases was undertaken using current guidelines to identify original relevant research papers from 1980 to 2007, which explore the issues surrounding parents and their children's communication about inherited genetic risk. A total of 9698 abstracts were found of which 158 research papers were reviewed as potentially relevant. A final 17 papers were identified which met predefined inclusion and exclusion criteria. Using a meta-ethnographic approach, all identified studies' findings were analysed as primary data sources by three researchers, who independently identified the key concepts. A high level of congruence emerged between researchers, and agreed concepts were used to examine similarities and differences between papers. The findings informed the development of a narrative framework exploring the issues that related to parents' explanations of inherited genetic risk to their children, the reasons for sharing information, children's understanding of parents' explanations, the emotions evoked for family members and the support and guidance received from health professionals. Providing information, checking understanding, and explaining and managing the emotional feelings that arise were integral to supporting children's coping with genetic risk information. However, many parents struggled with one or more of these components and required more support specific to the child's developmental stage, and family members' transition of readjustment to the impact of the genetic condition.

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“…18 Many have noted the possibility that genetic test results (e.g., knowledge of increased personal risks) might have a negative impact on children's psychosocial wellbeing 14,19,21,22 as measured by adverse emotional states, altered self-perception, or disrupted social relationships. 14,15,[21][22][23] Countering these concerns is the perspective that testing may provide benefits such as relief from uncertainty, the opportunity to integrate risk status into an evolving self-concept, and improved social support through relationships with families and friends. 6,17,18,20 Such debates over the benefits and harms are common in the genetic testing literature and have given rise to empirical studies that aim to clarify the relevant social and ethical issues.…”

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confidence: 99%

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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Why tell asymptomatic children of the risk of an adult-onset disease in the family but not test them for it?

Cited by 24 publications

References 19 publications

Newborn screening programs: Should 22q11 deletion syndrome be added?

Newborn screening programs: Should 22q11 deletion syndrome be added?

Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research

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

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