IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)
“It’s all about genetics”: genetic testing experiences and genetic counseling needs among adolescents and young adults living with differences of sex development
Audrey Rutz 1 , Tyler Beeston 2 , Sanajana Srinivasan 2 , Josue Flores-Daboub 1 , Katherine Hayes 3 , Deborah L. Jacobson 4 , Anthony J. Schaeffer 4 , Kathleen Timme 1 , David E. Sandberg 5,6 , Angela Fagerlin 7 , Melissa D. Gardner 1 & Kristina I. Suorsa-Johnson 1
1Department of Pediatrics, University of Utah Spencer Fox Eccles School of Medicine, Salt Lake City, Utah, USA; 2Department of Psychology, University of Utah, Salt Lake City, Utah, USA; 3Department of Obstetrics and Gynecology, University of Utah Spencer Fox Eccles School of Medicine, Salt Lake City, USA; 4Department of Surgery, University of Utah Spencer Fox Eccles School of Medicine, Salt Lake City, Utah, USA; 5Department of Pediatrics & Susan B. Meister Child Health Evaluation & Research (CHEAR) Center, University of Michigan, Ann Arbor, Michigan, USA; 6Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA; 7Department of Population Health Sciences, University of Utah Spencer Fox Eccles School of Medicine, Salt Lake City, Utah, USA. Correspondence to: [email protected]
Background: Adolescents and young adults (AYAs) with differences of sex development (DSD) face unique challenges related to understanding their diagnosis, including their genetic etiology. Little is known about how AYAs experience genetic testing or perceive the role of genetic counseling within their care. This qualitative study sought to understand the experiences of AYAs making important decisions about their DSD, including those related to genetic testing.
Methods: Twenty-five AYAs with DSD (mean age=17.0 years; range=11-24 years) from one US-based children’s hospital completed an hour-long interview focused on decision making related to their DSD. Participants who had genetic testing completed during adolescence and young adulthood were asked about this decision. Interviews were recorded, transcribed, and emerging themes identified.
Results: Twelve (48%) AYAs in our sample discussed genetic testing. Related themes included that: 1) knowing the genetic etiology was helpful; 2) having genetic information, particularly the karyotype, impacts AYA’s understanding of their sex and gender; 3) if the condition was heritable, it would be important to share this with a partner; and 4) AYAs do not like blood draws, which they associate with genetic testing. Additionally, significant gaps in understanding were identified, with several participants unaware of whether they had undergone genetic testing, uncertain of its purpose, or unaware of results documented in their medical records. Among those introduced to the concept of genetic counseling, interest in and openness to these services was expressed, suggesting an unmet need.
Conclusions: These findings highlight important gaps in AYA understanding of genetic testing and an unmet need for genetic counseling integration in DSD care. Age-appropriate education and resources are essential to improving the genetic care experience for this population.
Volume 118
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Endocrine Abstracts
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