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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Experience with genetic counseling: the adolescent perspective.
Amanda Pichini1,2,3, Cheryl Shuman4,5, Karen Sappleton6
1Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. amanda.pichini@nhs.net.
Adolescents with genetic conditions benefit from genetic counseling by gaining understanding and personal control. This study suggests tailored approaches to improve support and adaptation during this developmental stage.
Area of Science:
- Medical Genetics
- Adolescent Medicine
- Psychosocial Support
Background:
- Adolescence is a critical developmental period for identity and autonomy.
- Genetic conditions can complicate adolescent adjustment.
- Limited resources and guidelines exist for genetic counseling in adolescents.
Purpose of the Study:
- To investigate adolescent experiences with genetic counseling.
- To identify factors influencing adaptation to genetic conditions.
- To inform the development of adolescent-focused genetic counseling strategies.
Main Methods:
- Qualitative exploratory study.
- Semi-structured interviews with 11 adolescents (12-18 years) with genetic conditions.
- Thematic analysis of interview transcripts.
Main Results:
- Three key themes emerged: understanding the genetic counselor's role, increasing perceived personal control, and adolescent-specific adaptation factors.
- Adolescents seek to understand the counselor's role and desire increased personal control.
- Specific adolescent factors impact adaptation to genetic conditions.
Conclusions:
- Findings can inform an adolescent-focused framework for genetic counseling.
- Enhanced genetic counseling can improve adaptation and support for adolescents with genetic conditions.
- Strategies can facilitate the transition from pediatric to adult care.
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