Date of Award

Spring 2019

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Jessica Fairey

Abstract

Purpose: This study evaluated the healthcare provider’s role during the social development of emerging adults with a genetic condition. The study also identified the type of information and ways that these adolescents hope to receive information on the potential side effects or complications from engaging in risk taking behaviors and lifestyle choices.

Methods: Participants included both males and females aged 18-26 with achondroplasia, sickle cell disease, cystic fibrosis, or Marfan syndrome. Respondents were recruited to complete an anonymous online questionnaire via social media support groups or email notification.

Results: There were 103 total respondents that completed the questionnaire and met the study’s inclusion criteria. Fifty percent or more of participants have not talked to their providers about smoking, tobacco, drug use, sexual activity, contraceptives and birth control, moving out, or independent living. Using thematic analysis of open responses, it was reported those participants having discussions were not satisfied with the age in which the topics began to be discussed or the manner of the communication. Respondents indicated this information needs to be reviewed sooner and should include the topics of mental health and specific activity and exercise restrictions.

Conclusion: These results suggest that this patient population is experiencing gaps in care when it comes to anticipatory guidance in regard to making informed decisions about risk taking behaviors and their genetic condition. The patients who reported they did receive some of this information suggested that the timing or manner in which it was discussed with a provider was not preferred. Overall, there are improvements to be made to aid in the emerging adult population which could empower their ability to make educated decisions about their genetic condition and lifestyle, thus improving their quality of life.

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