Trends in Clinico-pathological and Risk Factor Profile of Breast Cancer; 10-year Experience at a Single Center in Sri Lanka

[摘要] Background In precision medicine, somatic and germlineDNA sequencing are essential to make genome-guidedtreatment decisions in patients with cancer. However, itcan also uncover unsolicited findings (UFs) in germlineDNA that could have a substantial impact on the livesof patients and their relatives. It is therefore critical tounderstand the preferences of patients with cancerconcerning UFs derived from whole-exome (WES) orwhole-genome sequencing (WGS).Methods In a quantitative multicentre study, adultpatients with cancer (any stage and origin of disease) weresurveyed through a digital questionnaire based on previoussemi-structured interviews. Background knowledgewas provided by showing two videos, introducing basicconcepts of genetics and general information aboutdifferent categories of UFs (actionable, non-actionable,reproductive significance, unknown significance).Results In total 1072 patients were included of whom701 participants completed the whole questionnaire.Overall, 686 (85.1%) participants wanted to be informedabout UFs in general. After introduction of four UFscategories, 113 participants (14.8%) changed theiranswer: 718 (94.2%) participants opted for actionablevariants, 537 (72.4%) for non-actionable variants, 635(87.0%) participants for UFs of reproductive significanceand 521 (71.8%) for UFs of unknown significance. Menwere 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 haveaccess to their UFs while still alive. 603 (82%) participantsagreed to information being shared with relatives, afterthey would pass away.Conclusion Our study showed that the vast majorityof patients with cancer desires to receive all UFs ofgenome testing, although a substantial minority does notwish to receive non-actionable findings. Incorporationof categories in informed consent procedures supportspatients in making informed decisions on UFs.

[学科分类] 生理学与病理学