Genomic medicine is peppered with complex terms – both clinical and research – that can leave the uninitiated confused. Add to that inconsistencies in the way these terms are applied and used, and you have the potential for more misunderstanding.
A case in point: how do you describe findings from a genomic test that were not within the initial scope of the test. Incidental? Secondary? Additional? Unsolicited? On their own, each comes with a connotation or could be interpreted differently. And how should these results be described to a patient?
A scoping review by Australian Genomics researchers published in the international journal Genetics in Medicine explores the range of terms used to describe these findings and the justifications underlying the choice of terminology. It is the forerunner to further work expected to lead to recommendations to government.
“A lack of clarity engenders confusion, increases the likelihood of miscommunication between stakeholders and hinders progress toward professional consensus guidelines,” it says, noting that a variety of justifications for terms are used globally. The paper also points out that patients have had very little input into determining this terminology or its justification.
Widely agreed-upon terminology will support effective communication and help to reach consensus on the ethical management of genomic findings beyond the initial test, it says.
The paper looks into justifications for each of 16 terms and identifies four groups of reasons that have been used to defend or oppose them. These are: expectation of the finding, effective communication, relatedness to the original test requested, and how the genomic information was generated.
Read the full paper here.