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

Abstract

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...