Wynn Julia, Martinez Josue, Duong Jimmy, Chiuzan Codruta, Phelan Jo C, Fyer Abby, Klitzman Robert L, Appelbaum Paul S, Chung Wendy K
Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Ave., Russ Berrie Pavilion, 6th Fl, Rm 620, New York, NY, 10032, USA.
Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA.
J Genet Couns. 2017 Aug;26(4):841-851. doi: 10.1007/s10897-016-0059-2. Epub 2016 Dec 29.
Secondary or incidental results can be identified in genomic research that increasingly uses whole exome/genome sequencing. Understanding research participants' preferences for secondary results and what influences these decisions is important for patient education, counseling, and consent, and for the development of policies regarding return of secondary results. Two hundred nineteen research participants enrolled in genomic studies were surveyed regarding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data. The majority of research participants (73%) indicated a preference to learn about all results offered, with no clear pattern regarding which results were not desired by the remaining participants. Participants who reported greater interest in genetic privacy were less likely to indicate a preference to learn all results, as were individuals who self-identified as Jewish. Although most research participants preferred to receive all secondary results offered, a significant subset preferred to exclude some results, suggesting that an all-or-none policy would not be ideal for all participants. The correlations between preferences to receive secondary results, religious identification, and privacy concerns demonstrate the need for culturally sensitive counseling and educational materials accessible to all education levels to allow participants to make the best choices for themselves.
在越来越多地使用全外显子组/基因组测序的基因组研究中，可以识别出次要或偶然的结果。了解研究参与者对次要结果的偏好以及影响这些决策的因素，对于患者教育、咨询和同意，以及制定关于次要结果反馈的政策都很重要。对219名参与基因组研究的参与者进行了调查，询问他们对特定类型次要结果的假设偏好，并将这些偏好与人口统计学信息和心理社会数据相关联。大多数研究参与者（73%）表示倾向于了解所有提供的结果，其余参与者对哪些结果不感兴趣没有明显模式。对基因隐私表示更大兴趣的参与者以及自我认定为犹太人的个体，不太可能表示倾向于了解所有结果。尽管大多数研究参与者倾向于接受所有提供的次要结果，但有相当一部分人倾向于排除某些结果，这表明一刀切的政策对所有参与者来说并非理想选择。接受次要结果的偏好、宗教认同和隐私担忧之间的相关性表明，需要提供适合所有教育水平的具有文化敏感性的咨询和教育材料，以便参与者为自己做出最佳选择。
