A survey of aortic disease biorepository participants' preferences for return of research genetic results.
A survey of aortic disease biorepository participants' preferences for return of research genetic results.
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DOI：
10.1002/jgc4.1341
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发表时间：
2021-06
影响因子：
1.9
通讯作者：
Roberts JS
中科院分区：
文献类型：
--
作者：
Love-Nichols J;Uhlmann WR;Arscott P;Willer C;Hornsby W;Roberts JS
关于是否以及哪些基因研究结果应该返回给研究参与者的争论正在进行中。迄今为止，尽管已知的基因在临床上是可行的，但该领域的研究还没有集中在主动脉病变人群上。对患有主动脉病变的参与者（n=225, 79%为男性，平均年龄=61岁）进行调查，以评估接受研究遗传结果的偏好。参与者“非常”或“极有可能”希望获得对家庭成员有影响的主动脉病变基因致病性变异的结果（81%），或者这将改变医疗管理（76%）。同样，参与者“非常”或“极有可能”希望获得与癌症（75%）或其他心脏疾病（70%）相关的可操作的次要发现。对于无法采取行动的发现——主动脉病变基因中不会改变医疗管理的致病变异（51%）和意义不确定的变异（38%）——的兴趣明显降低（p<0.0001）。较高的健康和基因组知识水平与对可操作发现的兴趣呈正相关。大多数参与者（约63%）接受任何回报方式；然而，相当一部分人（18-38%）认为某些技术手段是不可接受的（例如，患者门户）。超过90%的参与者报告说，一系列卫生专业人员，包括心血管专家、遗传学专家和初级保健提供者，可以接受返回结果。主动脉病变的参与者对研究基因结果非常感兴趣，认为这对他们自己或家庭成员来说是医学上可行的。参与者接受了各种各样的返回结果的方法。研究结果表明，应询问研究参与者在知情同意时更倾向于哪种结果，遗传咨询可能会澄清那些在个人医学上不可操作的结果的影响。
There is ongoing debate on whether and what research genetic results to return to study participants. To date, no study in this area has focused on aortopathy populations despite known genes that are clinically actionable. Participants (n=225, 79% male, mean age=61 years) with an aortopathy were surveyed to assess preferences for receiving research genetic results. Participants were ‘very’ or ‘extremely likely’ to want results for pathogenic variants in aortopathy genes with implications for family members (81%) or that would change medical management (76%). Similarly, participants were ‘very’ or ‘extremely likely’ to want actionable secondary findings related to cancer (75%) or other cardiac diseases (70%). Significantly lower interest was observed for non-actionable findings – pathogenic variants in aortopathy genes that would not change medical management (51%) and variants of uncertain significance (38%) (p<0.0001). Higher health and genomic literacy were positively associated with interest in actionable findings. Most participants (>63%) were accepting of any means of return; however, a substantial minority (18-38%) deemed certain technological means unacceptable (e.g., patient portal). Over 90% of participants reported that a range of health professionals, including cardiovascular specialists, genetics specialists, and primary care providers, were acceptable to return results. Participants with aortopathies are highly interested in research genetic results perceived to be medically actionable for themselves or family members. Participants are accepting of a variety of means for returning results. Findings suggest that research participants should be asked what results are preferred at time of informed consent and that genetic counseling may clarify implications of results that are not personally medically actionable.
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影响因子：
37.8
作者：
Go AS;Mozaffarian D;Roger VL;Benjamin EJ;Berry JD;Blaha MJ;Dai S;Ford ES;Fox CS;Franco S;Fullerton HJ;Gillespie C;Hailpern SM;Heit JA;Howard VJ;Huffman MD;Judd SE;Kissela BM;Kittner SJ;Lackland DT;Lichtman JH;Lisabeth LD;Mackey RH;Magid DJ;Marcus GM;Marelli A;Matchar DB;McGuire DK;Mohler ER 3rd;Moy CS;Mussolino ME;Neumar RW;Nichol G;Pandey DK;Paynter NP;Reeves MJ;Sorlie PD;Stein J;Towfighi A;Turan TN;Virani SS;Wong ND;Woo D;Turner MB;American Heart Association Statistics Committee and Stroke Statistics Subcommittee
通讯作者：
American Heart Association Statistics Committee and Stroke Statistics Subcommittee
影响因子：
8.8
作者：
Butrick, Morgan;Kelly, Scott;Schwartz, Marc D.
通讯作者：
Schwartz, Marc D.
影响因子：
8.8
作者：
Christensen, Kurt D.;Uhlmann, Wendy R.;Green, Robert C.
通讯作者：
Green, Robert C.
DOI：
10.12945/j.aorta.2017.17.003
发表时间：
2017-02-01
期刊：
Aorta (Stamford, Conn.)
影响因子：
--
作者：
Brownstein, Adam J;Ziganshin, Bulat A;Elefteriades, John A
通讯作者：
Elefteriades, John A
影响因子：
7.4
作者：
Ahmad, Ferhaan;McNally, Elizabeth M.;Wilcox, Janel E.
通讯作者：
Wilcox, Janel E.