评估黑色素瘤综合风险评分交流方法。

IF 3.7 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Courtney K Wallingford, Adam Mothershaw, Clare Primiero, Tenielle Clinch, Tamara Dawson, Nathan Ingold, H Peter Soyer, Matthew H Law, Aideen McInerney-Leo, Tatiane Yanes
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引用次数: 0

摘要

综合风险评分(多基因和非遗传风险因素)可以促进风险分层,为有针对性的黑色素瘤筛查提供信息。这项混合方法的试点研究通过问卷调查(基线和1个月后结果)和半结构化访谈评估了黑色素瘤综合风险沟通方案的满意度、态度和心理社会影响。参与正在进行的黑色素瘤研究的受影响和未受影响的成年人被招募来接受他们的综合风险手册,并参加遗传咨询预约。35/73同意参加;31名和33名分别完成了基线和随访问卷。参与者认为这些信息是有用的,认为它激发了良好的健康行为,并对小册子的质量和内容感到满意。所有参与者在基线和随访中都感到高度授权管理黑色素瘤风险。大多数参与者不确定或对预防未来的黑色素瘤几乎没有控制,在随访中没有改变(卡方p = 0.73)。所有参与者的基因特异性痛苦和不确定性都很低。定性访谈支持定量调查结果,并强调了接触临床医生对结果解释和风险管理的重要性。在这个高危人群中,沟通模式是可以接受的,并且没有导致负面的社会心理后遗症。这项研究的发现强调了有效沟通和传递综合风险的关键考虑因素,可用于为未来更多样化的黑色素瘤和其他常见疾病的研究提供信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluating an approach for communicating integrated risk scores for melanoma.

Integrated risk scores (polygenic and non-genetic risk factors) can facilitate risk-stratification, to inform targeted melanoma screening. This mixed-methods pilot study assessed satisfaction, attitudes, and psychosocial impact of a protocol for communicating integrated risk for melanoma using questionnaires (baseline and 1-month post-results) and semi-structured interviews. Affected and unaffected adults enroled in ongoing melanoma studies were recruited to receive their integrated risk booklets and attend a genetic counselling appointment. 35/73 consented to participate; 31 and 33 completed baseline and follow-up questionnaires, respectively. Participants rated the information as useful, felt it motivated favourable health behaviours and were satisfied with the quality and content of the booklet. All participants felt highly empowered managing melanoma risk at baseline and follow-up. Most participants were unsure or felt little to no control over preventing future melanomas, which did not change at follow-up (Chi-square p = 0.73). Genetic-specific distress, and uncertainty was low for all participants post-results. Qualitative interviews supported quantitative findings and highlighted importance of access to a clinician for results interpretation and risk-management. In this high-risk cohort, the communication model was acceptable, and did not result in negative psychosocial sequelae. Findings from this study highlight key considerations for effective communication and delivery of integrated risk which can be used to inform future research in more diverse cohorts for melanoma and other common conditions.

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来源期刊
European Journal of Human Genetics
European Journal of Human Genetics 生物-生化与分子生物学
CiteScore
9.90
自引率
5.80%
发文量
216
审稿时长
2 months
期刊介绍: The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics
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