Preferences to receive unsolicited findings of germline genome sequencing in a large population of patients with cancer.
ESMO Open
; 5(2)2020 04.
Article
em En
| MEDLINE
| ID: mdl-32312756
ABSTRACT
BACKGROUND:
In precision medicine, somatic and germline DNA sequencing are essential to make genome-guided treatment decisions in patients with cancer. However, it can also uncover unsolicited findings (UFs) in germline DNA that could have a substantial impact on the lives of patients and their relatives. It is therefore critical to understand the preferences of patients with cancer concerning UFs derived from whole-exome (WES) or whole-genome sequencing (WGS).METHODS:
In a quantitative multicentre study, adult patients with cancer (any stage and origin of disease) were surveyed through a digital questionnaire based on previous semi-structured interviews. Background knowledge was provided by showing two videos, introducing basic concepts of genetics and general information about different categories of UFs (actionable, non-actionable, reproductive significance, unknown significance).RESULTS:
In total 1072 patients were included of whom 701 participants completed the whole questionnaire. Overall, 686 (85.1%) participants wanted to be informed about UFs in general. After introduction of four UFs categories, 113 participants (14.8%) changed their answer 718 (94.2%) participants opted for actionable variants, 537 (72.4%) for non-actionable variants, 635 (87.0%) participants for UFs of reproductive significance and 521 (71.8%) for UFs of unknown significance. Men were more interested in receiving certain UFs than women non-actionable OR 3.32; 95% CI 2.05 to 5.37, reproductivesignificance:
OR 1.97; 95% CI 1.05 to 3.67 and unknownsignificance:
OR 2.00; 95% CI 1.25 to 3.21. In total, 244 (33%) participants conceded family members to have access to their UFs while still alive. 603 (82%) participants agreed to information being shared with relatives, after they would pass away.CONCLUSION:
Our study showed that the vast majority of patients with cancer desires to receive all UFs of genome testing, although a substantial minority does not wish to receive non-actionable findings. Incorporation of categories in informed consent procedures supports patients in making informed decisions on UFs.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Mutação em Linhagem Germinativa
/
Sequenciamento Completo do Genoma
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Neoplasias
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article