Incidental findings, consent and confidentiality

Synopsis

Prepare families for unexpected genomic information, obtain valid child-centred consent, distinguish report categories, protect confidentiality while addressing serious familial risk, and document proportionate interpretation, disclosure and follow-up.

• Clarify the laboratory's actual analysis and reporting policy before consent; broad genomic data do not mean that every possible disease association will be searched for or returned.
• Distinguish a secondary or additional finding sought under policy from an incidental or unsolicited finding discovered while answering the primary clinical question.
• Explain likely outcomes in accessible terms: diagnostic, uncertain, negative, carrier, familial and occasionally unexpected information about health or biological relationships.
• Assess capacity or competence for the specific decision, involve every child according to understanding and give a competent young person control over their own genomic testing.
• Parents usually decide for a child lacking competence, but the test should serve the child's interests; adult-onset predictive information without childhood benefit often warrants deferral.
• A variant of uncertain significance is not a confirmed incidental diagnosis and should not be disclosed as actionable simply because the gene is serious.
• Confidentiality is the starting point when a result matters to relatives; seek patient-led sharing and disclose without consent only exceptionally to prevent serious harm after senior review.
• Record what was discussed, preferences, authority, material limitations, the exact reported finding, consultation with genetics and the agreed plan for the child and relatives.