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Experience with genetic counseling: the adolescent perspective

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Adolescence is a complex period of development that involves creating a sense of identity, autonomy, relationships and values. This stage of adjustment can be complicated by having a genetic condition. Genetic counseling can play an important role in providing information and support to this patient population; however, resources and guidelines are currently limited. In order to appropriately establish genetic counseling approaches and resource development, we investigated the experiences and perspectives of adolescents with a genetic condition with respect to their genetic counseling interactions. Using a qualitative exploratory approach, eleven semi-structured interviews were conducted with adolescents diagnosed with a genetic condition who received genetic counseling between the ages of 12 and 18 years at The Hospital for Sick Children. Transcripts were analyzed thematically using qualitative content analysis, from which three major interrelated themes emerged: 1) understanding the genetic counselor’s role; 2) increasing perceived personal control; and 3) adolescent-specific factors influencing adaptation to one’s condition. Additionally, a list of suggested tools and strategies for genetic counseling practice were elucidated. Our findings can contribute to the development of an adolescent-focused framework to enhance emerging genetic counseling approaches for this patient population, and can also facilitate the transition process from pediatric to adult care within patient and family-centered contexts.

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Acknowledgments

Funding for this study was provided by The Hospital for Sick Children Trainee Start-Up Fund. The authors would also like to thank the adolescents who provided such candid insights into their experiences, without which this study would not be possible.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada

    Amanda Pichini, Cheryl Shuman, David Chitayat & Riyana Babul-Hirji

  2. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

    Amanda Pichini, Cheryl Shuman, David Chitayat & Riyana Babul-Hirji

  3. Center for Innovation and Excellence in Child & Family Centered Care, The Hospital for Sick Children, Toronto, ON, Canada

    Karen Sappleton

  4. Department of Pediatrics, Division of Adolescent Medicine, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada

    Miriam Kaufman

  5. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada

    David Chitayat

  6. Clinical Genetics Service, Saint Michael’s Hospital, Southwell Street, Bristol, BS2 8EG, UK

    Amanda Pichini

Authors
  1. Amanda Pichini
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  2. Cheryl Shuman
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  3. Karen Sappleton
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  4. Miriam Kaufman
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  5. David Chitayat
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  6. Riyana Babul-Hirji
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Corresponding author

Correspondence to Amanda Pichini.

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Conflict of interest

Authors Amanda Pichini, Cheryl Shuman, Karen Sappleton, Miriam Kaufman, David Chitayat and Riyana Babul-Hirji declare that they have no conflict of interest.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Animal studies

No animal studies were carried out by the authors for this article.

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Pichini, A., Shuman, C., Sappleton, K. et al. Experience with genetic counseling: the adolescent perspective. J Genet Counsel 25, 583–595 (2016). https://doi.org/10.1007/s10897-015-9912-y

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  • DOI: https://doi.org/10.1007/s10897-015-9912-y

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