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Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians' Views and
Lauren Notini1,2, Clara Gaff3,4,5, Julian Savulescu1,2,6
1University of Melbourne, Carlton, Australia.
Insights
Clinicians found parents declined secondary findings (SF) due to potential harm or overwhelm, while others felt obligated. Offering SF after diagnostic results is preferred to support parental choice and navigate ethical challenges in pediatric genomic sequencing.
Area of Science:
- Genetics
- Pediatrics
- Bioethics
Background:
- Debate exists on offering secondary findings (SF) in pediatric genomic sequencing.
- Limited research explores clinician experiences offering SF to parents of infants with recent diagnoses.
Purpose of the Study:
- To explore clinicians' views and experiences offering SF to parents of infants undergoing diagnostic exome sequencing (ES) for hearing loss.
- To understand parental decision-making, clinician recommendations, and ethical challenges in returning SF.
Main Methods:
- Qualitative interviews with 12 clinicians who offered SF to parents of infants with hearing loss.
- Inductive content analysis of transcribed interviews.
Main Results:
- Parents declined SF due to perceived harm, overwhelm, or feeling obligated.
- Some parents found SF decision-making positive, others distressing.
- Clinicians advocated offering SF after diagnostic results to avoid overwhelming parents.
- Ethical challenges included balancing autonomy, non-maleficence, and informed consent.
Conclusions:
- Findings offer novel insights into clinician and parent decision-making regarding SF in pediatric genomic sequencing for infants with hearing loss.
- Recommendations for offering SF emphasize parental autonomy and minimizing distress.
Background:
There is ongoing debate regarding whether and under which circumstances secondary findings (SF) should be offered in the pediatric context. Although studies have examined patient perspectives on receiving SF, little research has been conducted examining the experiences of clinicians offering SF to parents of newborns receiving genomic sequencing for a recently diagnosed medical condition.
Methods:
To address this, we conducted qualitative interviews exploring the views and experiences of 12 clinicians who offered SF to parents of infants who had diagnostic exome sequencing (ES) to identify the cause of their hearing loss. Interviews explored clinicians' accounts of parents' choices and decision-making about receiving SF, their views on whether and when to offer SF, their experiences returning SF, and any ethical challenges they encountered. Interviews were audio-recorded, transcribed and analyzed using inductive content analysis.
Results:
Clinicians reported parents who declined all SF often felt finding out about future conditions unrelated to their child's hearing loss may be unhelpful, or even harmful, or were overwhelmed by their child's diagnosis. Clinicians also reported that some parents chose SF because they felt obliged to, even if they did not want to receive them. They explained that while some parents experienced decision-making regarding SF as positive, for others, this process was challenging or distressing. While clinicians generally agreed SF should be offered, mainly to promote parental choice, most felt SF should be offered after disclosing diagnostic results, primarily to avoid overwhelming parents. Clinicians encountered several ethical challenges, including balancing parental autonomy with non-maleficence, wanting to report or not report certain SF, and questioning whether parents can make an autonomous choice regarding SF.
Conclusions:
Our findings, which are novel as they relate to parents of young infants with a recent diagnosis of hearing loss, add new insights into clinicians' and parents' decision-making regarding SF in pediatrics.
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