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Women's responses and understanding of polygenic breast cancer risk information.
Familial Cancer ( IF 2.2 ) Pub Date : 2020-05-20 , DOI: 10.1007/s10689-020-00185-2
T Yanes 1, 2 , R Kaur 1 , B Meiser 1 , M Scheepers-Joynt 3 , S McInerny 3 , K Barlow-Stewart 4 , Y Antill 5 , L Salmon 6 , C Smyth 7 , P A James 3, 8 , M A Young 3, 9
Affiliation  

It is estimated that polygenic factors can explain up to 18% of familial breast cancer. Clinical implementation of polygenic testing has begun, with several commercial laboratories now testing. Despite commercial implementation, there is little research investigating how women respond and understand polygenic risk information. This study aimed to explore women’s experience receiving their personalised polygenic risk score (PRS) and compare responses of women at different levels of polygenic risk. Eligible participants were affected and unaffected women from families clinically assessed to be at high risk for breast cancer who had received their personalised PRS as part of the Variants in Practice Psychosocial Study (ViPPs). In-depth semi-structured interviews were conducted with 21 women (mean age 53.4 years) up to four weeks after receiving their PRS. Interviews were transcribed verbatim and analysed using thematic analysis. Eleven women received a PRS that was in the top quartile of PRS distribution and 10 in the lowest quartile. Women’s lived experience with breast cancer informed how they responded to their PRS, constructed and made sense of breast cancer risk following receipt of their PRS, and integrated this new information into their breast cancer risk management. Regardless of polygenic risk level, all participants demonstrated broad knowledge of concepts related to polygenic information and were able to accurately describe the implications of their PRS. Receiving PRS did not appear to negatively impact women’s reported distress levels. Our findings suggest polygenic breast cancer information is well received and understood by women at high-risk for breast cancer.

中文翻译:

妇女对多基因乳腺癌风险信息的反应和理解。

据估计,多基因因素可以解释多达18%的家族性乳腺癌。多基因检测的临床实施已经开始,目前有数个商业实验室正在进行检测。尽管有商业实施,但很少有研究调查妇女如何应对和理解多基因风险信息。这项研究旨在探讨女性接受个性化多基因风险评分(PRS)的经验,并比较处于不同多基因风险水平的女性的反应。符合条件的参与者是经过临床评估为乳腺癌高风险的家庭中受影响和未受影响的妇女,这些妇女已经接受了个性化PRS作为实践社会心理研究(ViPPs)的一部分。对21位女性(平均年龄53岁)进行了深入的半结构化访谈。4年),直到收到其PRS为止的四个星期。访谈逐字记录并使用主题分析进行分析。11名女性获得的PRS位于PRS分布的最高四分位数中,而十名处于最低的四分位数中。妇女在乳腺癌方面的经验告诉他们如何应对自己的PRS,在收到PRS后如何构建和理解乳腺癌风险,并将这些新信息整合到乳腺癌风险管理中。无论多基因风险水平如何,所有参与者都展示了与多基因信息相关概念的广泛知识,并且能够准确地描述其PRS的含义。接受PRS似乎并未对妇女报告的困扰水平产生负面影响。
更新日期:2020-05-20
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