Abstract
Various medical tests are routinely performed in medical practice to establish or confirm a diagnosis and prescribe the right treatment. In some cases, the results of a medical test can reveal a previously undiagnosed condition, which is not related to the current medical condition and the original purpose of the test. Such results, called incidental findings, have sparked a significant debate on whether all of them should be reported back to the patients. In this chapter, we present the debate on the implications and management of incidental findings in the clinic, to offer a heuristic for reaching an ethically desirable outcome on a case-by-case basis.
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Notes
- 1.
Screening conducted on reproductive cells (egg cells and spermatozoids) prior to in vitro fertilisation in order to choose those not carrying variants implicated in disease developments.
- 2.
Testing conducted on an entire population or parts of the population as part of preventive and early diagnosis health interventions.
- 3.
In rare diseases, the number of individuals suffering from the condition in question is so small and the variability among those people consequently so large and that it is difficult to construct the list of the most common symptoms and potential treatments. Characterisation on the molecular level, however, could provide a more stable source of reference for treatment and for diagnostic/prognostic purposes.
- 4.
Many diseases, and cancer in particular, show individual differences in response to currently available treatments. This suggested tailoring the treatment to the individuals by looking at the differences they exhibit in symptoms but more recently on molecular level, and in particular in their genomic sequences.
- 5.
ΔF508 is a deletion (indicated by Greek the letter Δ) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.
- 6.
We would like to note that incidental findings did not originate with genomics. They first appeared in radiology with radiographic imaging as technology that made it possible to “see”, that is, to detect previously unsuspected health conditions.
- 7.
It could be worth noting that there is also a debate regarding incidental findings that questions the utility of the concept itself, because genome-scale screening itself includes collecting all the variants in one patient; therefore, it is inevitable to discover variants that are unrelated to the original purpose of the test. A more suitable term, according to these authors (see, Allyse and Michie 2013), is ‘secondary findings’. However, as the concept has both historic and analytic utility, it deserves consideration in a handbook of ethical counselling.
- 8.
Exome refers to a part of the genome (genomic sequence) that is expressed in cells/tissues tested—genome is always the same, no matter what tissue/cell or at what point in life, while exome varies from tissue to tissue and from cell to cell and also in time.
- 9.
By clinical utility, we intend that the results clearly identify and/or indicate targets of clinical action. For example, a result that shows the presence of ΔF508 has high clinical utility, as it detects a variant known to be causing cystic fibrosis and suggests treatment options. Contrary to this, a results that shows the presence of genetic variant thus far only shown to be loosely related to a condition in animal models (rats or mice, for example) is of low clinical utility because even though it can strengthen a hypothesis that it is indeed important in that condition and support further research, it does not currently offer prognostic, diagnostic or treatment options.
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Damjanovicova, M. (2016). Incidental Findings. In: Boniolo, G., Sanchini, V. (eds) Ethical Counselling and Medical Decision-Making in the Era of Personalised Medicine. SpringerBriefs in Applied Sciences and Technology(). Springer, Cham. https://doi.org/10.1007/978-3-319-27690-8_9
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DOI: https://doi.org/10.1007/978-3-319-27690-8_9
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