Incidental Findings in Genetic and Genomic Practice
Incidental Findings in Genetic and Genomic Practice
Our review has summarised the recent debate and literature around IFs arising from whole-genome technologies. The term 'IF' does not accurately cover all the situations in which it has been applied, yet proposed alternatives have their own problems. As the use of technology changes in practice, terminology will likely shift to diagnostic and opportunistic findings, although surprise findings that reveal unsuspected diagnoses or predispositions may still arise even if opportunistic screening is targeted to specific pathogenic variants. Where patient/research participants and healthcare professional views have been sought they have largely been of hypothetical situations, so it will be interesting to see whether these views hold as situations where IFs are found become a more widespread reality.
We recommend that further attention is paid to the following issues:
Conclusions
Our review has summarised the recent debate and literature around IFs arising from whole-genome technologies. The term 'IF' does not accurately cover all the situations in which it has been applied, yet proposed alternatives have their own problems. As the use of technology changes in practice, terminology will likely shift to diagnostic and opportunistic findings, although surprise findings that reveal unsuspected diagnoses or predispositions may still arise even if opportunistic screening is targeted to specific pathogenic variants. Where patient/research participants and healthcare professional views have been sought they have largely been of hypothetical situations, so it will be interesting to see whether these views hold as situations where IFs are found become a more widespread reality.
We recommend that further attention is paid to the following issues:
Using the genome result as a resource, accessible over time rather than necessitating disclosure of information all at once. The ethical, legal and practical issues around storing results that are not disclosed immediately would, however, need careful evaluation.
Management of the familial implications of IFs; who, if anyone, has responsibility for their disclosure to family members, and when this would be appropriate.
What level of risk or certainty should be associated with potential IFs before disclosure is considered.
Being clear and specific about what is meant by any of the terms listed in Table 1, taking into account that no one term will suit all situations.
When the output of genomic investigation becomes part of a patient's records, and what obligations ensue as a result.
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