Adolescents at Risk for MODY3 Diabetes Prefer Genetic Testing Before Adulthood

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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“…Finally, two studies found that children reported relatively high levels of satisfaction with testing. 42,44 Impact on self-perception…”

Section: Predictive Testingmentioning

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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“…A total of 45 studies met the inclusion criteria (Figure 1). A range of study designs were used, most of which were quantitative in nature (21 of 45 [47%]).…”

Section: Resultsmentioning

confidence: 99%

“…A range of study designs were used, most of which were quantitative in nature (21 of 45 [47%]). Of the 21 articles, 14 had a cross-sectional questionnaire design with a mix of original open- and closed-ended items and validated instruments, 5 were longitudinal studies, and 2 had a case-control design . Qualitative design was used in 12 additional studies (27%), and all 12 involved one-on-one interactions with participants; 8 of them also included semistructured interviews .…”

Section: Resultsmentioning

confidence: 99%

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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“…This will confirm that others with diabetes have the same aetiology and will identify unaffected mutation carriers at risk of developing diabetes later in life. The latter is referred to as a predictive test and, as in other areas of genetics, the decision whether to proceed with such a test depends on individual and family attitudes 10–12…”

Section: Clinical Features Of Mody Due To Hnf‐1α Mutationmentioning

confidence: 99%

“…Although parents on occasion request this for young children,12 it is generally recommended that this is delayed until the individual child can make an informed decision. A survey of a large group of HNF‐1α families from Finland10 showed that both parents and their (so far unaffected) adolescents aged 12–18 thought that predictive testing should be offered before the age of 18. However, despite receiving genetic counselling, 25% of adolescents having a predictive test were subsequently dissatisfied with their decision to go ahead.…”

Section: Investigation Of Relativesmentioning

confidence: 99%