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Genetic testing for breast cancer risk, fromBRCA1/2to a seven gene panel: an ethical analysis
Linköpings universitet, Institutionen för hälsa, medicin och vård, Avdelningen för samhälle och hälsa. Linköpings universitet, Medicinska fakulteten. Linköpings universitet, Institutionen för kultur och samhälle, Avdelningen för filosofi, historia, konst och religion. Linköpings universitet, Filosofiska fakulteten.
Linköpings universitet, Institutionen för hälsa, medicin och vård, Avdelningen för samhälle och hälsa. Linköpings universitet, Medicinska fakulteten.
Karolinska Inst, Sweden.
2020 (engelsk)Inngår i: BMC Medical Ethics, ISSN 1472-6939, E-ISSN 1472-6939, Vol. 21, nr 1, artikkel-id 102Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Background Genetic testing is moving from targeted investigations of monogenetic diseases to broader testing that may provide more information. For example, recent health economic studies of genetic testing for an increased risk of breast cancer suggest that it is associated with higher cost-effectiveness to screen for pathogenic variants in a seven gene panel rather than the usual two gene test for variants inBRCA1andBRCA2. However, irrespective of the extent to which the screening of the panel is cost-effective, there may be ethical reasons to not screen for pathogenic variants in a panel, or to revise the way in which testing and disclosing of results are carried out. Main text In this paper we discuss the ethical aspects of genetic testing for an increased risk of breast cancer with a special focus on the ethical differences between screening for pathogenic variants inBRCA1/2and a seven gene panel. The paper identifies that the panel increases the number of secondary findings as well as the number of variants of uncertain significance as two specific issues that call for ethical reflection. Conclusions We conclude that while the problem of handling secondary findings should not be overstated with regard to the panel, the fact that the panel also generate more variants of uncertain significance, give rise to a more complex set of problems that relate to the value of health as well as the value of autonomy. Therefore, it is insufficient to claim that the seven gene panel is preferable by only referring to the higher cost effectiveness of the panel.

sted, utgiver, år, opplag, sider
BMC , 2020. Vol. 21, nr 1, artikkel-id 102
Emneord [en]
Genetic testing; Breast cancer; Ethics; Secondary findings; Variants of uncertain significance
HSV kategori
Identifikatorer
URN: urn:nbn:se:liu:diva-171473DOI: 10.1186/s12910-020-00545-8ISI: 000585761100002PubMedID: 33087101OAI: oai:DiVA.org:liu-171473DiVA, id: diva2:1502644
Merknad

Funding Agencies|Linkoping University Library

Tilgjengelig fra: 2020-11-20 Laget: 2020-11-20 Sist oppdatert: 2020-12-08

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