Table 1

Evaluation of terms used to describe incidental genomic findings

Term	Advantages	Disadvantages
Incidental finding	Emphasises that in a setting where genome tests are used to investigate particular signs or symptoms, or search for particular diagnoses, significant findings that do not explain these are incidental to the aim of the investigation.15	Finding can provide very significant information, so the term ‘incidental’ may not do justice to the impact it has on testees, and may trivialise the significance it has. If examining an entire genome then it can be said that no finding is incidental since it is actively sought.16
Unsought for/unsolicited finding Unrelated finding	Captures the ability of genomic technologies to generate data not necessarily related to the initial diagnostic question.10 Highlights the notion that the finding does not explain the condition for which testing has been done.	Findings will only be identified if they are looked for or if some follow-up research is conducted to establish the significance of the variant.11 Although unrelated to the original investigation, the finding could be related to the current/future health of the tested individual and other family members.
Secondary finding/secondary variant	Distinguishes between findings causing the disorder for which testing was performed (primary variants) and other clinically important findings (secondary variants).5	Does not capture situations where the so-called secondary variant is the only (clinically significant) variant found. Can inaccurately suggest a temporal relationship where one finding is found first, the other the second. The term ‘variant’ is often used to indicate normal genetic variation or polymorphisms. Using ‘variant’ to describe predisposition to disease could be confusing.12
Unexpected result/unanticipatable finding	Dividing findings into expected/anticipatable and unexpected/unanticipatable could remind clinicians that unexpected findings should be discussed with and disclosed to patients in a different way to those associated with the original reason for testing. ‘Unexpected’ is a term patients can easily understand.17 Maintaining a division between ‘expected’ and ‘unexpected’ helps to emphasise that answers to particular clinical questions are the priority. Any other answers do not provide an explanation to the clinical question.11 16	Since the entire genome is being examined, findings that are unrelated to the reason for the test should always be expected or anticipated.11 15 Expectations of patients, clinicians and researchers are different to each other, so what is unexpected for one might be expected for the other.
Off-target result	Indicates that genomic tests are broader than targeted tests: what is targeted is most clearly seen, but other findings can still be found.18	Can give the impression that the result is not correct as it has missed a target.
Non-pertinent/coincidental Opportunistic findings	Emphasises that the discovery of some (coincidental) findings is unavoidable (eg, if genes are collocated with those associated with the pertinent finding). Emphasises that while looking for particular genomic findings, the analyser looks opportunistically for findings associated with unrelated conditions.19	Result may still be pertinent to an individual, just not pertinent to the original question asked. The opportunity the finding gives patients may be opaque to them.