Public perception of predictive cancer genetic testing and research in Oregon
Public perception of predictive cancer genetic testing and research in Oregon
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DOI：
10.1002/jgc4.1262
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发表时间：
2020-03-27
影响因子：
1.9
通讯作者：
Shannon, Jackilen
中科院分区：
文献类型：
--
作者：
Alvord, Teala W.;Marriott, Lisa K.;Shannon, Jackilen
利用广泛的基因检测为卫生保健提供信息的潜力已成为一种可行的选择，特别是对遗传性癌症而言。然而，对于如何有效地传达个人基因检测和参与有助于科学进步的生物储存库的好处和风险，人们知之甚少。在全国范围内，正在努力使社区参与大型遗传研究，以更好地估计遗传性癌症在全人群中的流行程度，但在一些社区，参与这些研究却遇到了犹豫或拒绝。为了成功地让俄勒冈人口参与纵向研究，包括对与癌症风险增加相关的致病性或可能致病性变异进行预测性基因检测，研究人员在俄勒冈州36个县中的24个县进行了35个焦点小组（其中两个以西班牙语进行），以更好地了解与基因检测相关的知识和态度以及参与纵向基因研究的意愿。共有203名成年人（平均45.6岁，18-88岁）参加了焦点小组，代表了不同的教育水平和基因研究的先验知识。大多数（85%）的参与者报告了个人或家庭的癌症诊断（例如，自己，家人，朋友）。大多数人（87%）还表示对癌症基因检测和获取有关自己的基因信息有浓厚兴趣。几乎所有的焦点小组（94%，35个站点中的33个）都包括参与者讨论他们的家庭（例如，孩子，近亲和大家庭成员）作为参与基因研究的主要动机。例如，参与者报告说，他们有兴趣增加对自己和家人癌症风险的个人知识，以便在发现致病变异时积极应对。虽然大多数焦点小组（94%，35个站点中的33个）包括参与者讨论描述预测性基因测试的障碍，例如对结果的担忧，但对许多参与者来说，了解自身健康风险的愿望减轻或超过了这些恐惧。其他普遍报道的担忧与对保险公司、研究人员或机构的潜在不信任有关，或者缺乏对遗传学、基因测试或基因研究的知识。与会者，特别是农村地区的与会者，强调了招募研究人员的关键因素，例如信任、个人互动、关于基因研究的公众教育，以及关于研究目标和过程的明确沟通。我们在全州范围内的研究结果表明，公众对预测性癌症基因检测和癌症基因研究的兴趣可以超越对复杂主题缺乏知识的程度，特别是在强调对自己和家庭的好处以及研究考虑得到很好阐述的情况下。
The potential for using widespread genetic testing to inform health care has become a viable option, particularly for heritable cancers. Yet, little is known about how to effectively communicate the benefits and risks of both personal genetic testing and participation in biorepositories that aid scientific advancements. Nationwide efforts are engaging communities in large genetic studies to better estimate the population-wide prevalence of heritable cancers but have been met with hesitance or declination to participate in some communities. To successfully engage an Oregon population in longitudinal research that includes predictive genetic testing for pathogenic or likely pathogenic variants associated with an increased risk for cancer, researchers conducted 35 focus groups (two of which were held in Spanish) in 24 of Oregon's 36 counties to better understand knowledge and attitudes related to genetic testing and willingness to participate in longitudinal genetic research. A total of 203 adults (mean = 45.6 years; range 18-88), representing a range of education levels and prior knowledge of genetic research, participated in the focus groups. The majority (85%) of participants reported personal or family diagnoses of cancer (e.g., self, family, friends). A majority (87%) also reported a strong interest in cancer genetic testing and receiving genetic information about themselves. Nearly all focus groups (94%, 33 of 35 sites) included participant discussion citing their families (e.g., children, close relatives, and extended family members) as key motivators for participation in genetic research. For example, participants reported interest in increasing personal knowledge about their own and their families' cancer risks in order to respond proactively, if a pathogenic variant was found. While most focus groups (94%, 33 of 35 sites) included participant discussion describing barriers to predictive genetic, testing such as concerns about outcomes, the desire to learn about health risks in oneself mitigated or outweighed those fears for many participants. Other commonly reported concerns were related to potential mistrust of insurance companies, researchers, or institutions, or lack of knowledge about genetics, genetic testing, or genetic research. Participants, particularly in rural areas, highlighted critical factors for research recruitment, such as trust, personal interaction, public education about genetic research, and clear communication about study goals and processes. Our statewide findings reflect that public interest in predictive cancer genetic testing and cancer genetic research can surpass lack of knowledge of the complex topics, particularly when benefits for self and family are emphasized and when study considerations are well articulated.