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Focus group discussions on secondary variants and next-generation sequencing technologies
Gabrielle M Christenhusz1, Koenraad Devriendt2, Hilde Van Esch2
1Centre for Biomedical Ethics and Law, KU Leuven, Leuven, Belgium.
European Journal of Medical Genetics
|February 10, 2015
Summary
Parents and genetics professionals desire flexibility in disclosing secondary genetic findings in children, considering family context over purely medical factors. This approach offers more options than current literature suggests.
Area of Science:
- Genetics
- Pediatrics
- Bioethics
Background:
- Next-generation sequencing (NGS) offers significant benefits for diagnosing pediatric developmental disabilities and congenital anomalies.
- Clinical decisions regarding the disclosure of genetic findings, particularly secondary variants, involve parents and medical professionals.
Purpose of the Study:
- To explore stakeholder concerns and ideas regarding the communication of results from NGS technologies in children.
- To understand preferences for disclosing secondary genetic variants in pediatric cases.
Main Methods:
- Eight exploratory focus group discussions were conducted with diverse stakeholders.
- Participants included parents, individuals without children, genetics professionals, and non-professionals across various age groups.
Main Results:
- Stakeholders expressed interest in factors beyond medical characteristics, including the parent-child relationship and broader family context, when considering the disclosure of secondary variants.
- Participants showed more flexibility regarding which secondary variants should be disclosed to parents compared to existing literature.
- The "Family Illness Paradigms model" helps explain how families' reactions to illness influence disclosure preferences.
Conclusions:
- Disclosure of secondary genetic findings in children should incorporate familial and contextual factors, not solely medical implications.
- A flexible approach, considering the family's unique dynamics, is crucial for effective communication of genetic results in pediatric care.
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