How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia?

被引:3
作者
Moorthy, Tiahna [1 ]
Nguyen, Huyan [2 ]
Chen, Ying [3 ]
Austin, Jehannine [4 ]
Smoller, Jordan W. [5 ,6 ,7 ,8 ]
Hercher, Laura [9 ]
Sabatello, Maya [10 ,11 ,12 ,13 ]
机构
[1] NYC Hlth Hosp, Jacobi Med Ctr, Bronx, NY USA
[2] Mt Sinai Serv, New York, NY USA
[3] New York State Psychiat Inst & Hosp, New York, NY USA
[4] Univ British Columbia, Psychiat & Med Genet, Vancouver, BC, Canada
[5] Harvard Med Sch, Psychiat, Boston, MA USA
[6] Harvard TH Chan Sch Publ Hlth, Epidemiol, Boston, MA USA
[7] Massachusetts Gen Hosp, Ctr Precis Psychiat & Psychiat, Boston, MA USA
[8] Massachusetts Gen Hosp, Neurodev Genet Unit, Boston, MA USA
[9] Sarah Lawrence Coll Joan H Marks Grad Program Huma, Bronxville, NY USA
[10] Columbia Univ, Ctr Precis Med & Gen, Dept Med, Med Sci in Med, New York, NY USA
[11] Columbia Univ, Dept Med Humanities & Ethics, Div Ethics, Med Sci in Med Humanities & Ethics, New York, NY USA
[12] Columbia Univ, Precis Med Ethics Polit & Culture Project, New York, NY USA
[13] Columbia Univ, Ctr Precis Med & Gen, Irving Med Ctr, 1150 St Nicholas Ave,Rm413, New York, NY 10032 USA
基金
美国国家卫生研究院;
关键词
clinical utility; ethics; knowledge; polygenic risk scores; schizophrenia; PREDICTION; UPDATE;
D O I
10.1002/ajmg.b.32939
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Polygenic risk scores (PRS) are promising for identifying common variant-related inheritance for psychiatric conditions but their integration into clinical practice depends on their clinical utility and psychiatrists' understanding of PRS. Our online survey explored these issues with 276 professionals working in psychiatric genetics (RR: 19%). Overall, participants demonstrated knowledge of how to interpret PRS results. Their performance on knowledge-based questions was positively correlated with participants' self-reported familiarity with PRS (r = 0.21, p = 0.0006) although differences were not statistically significant (Wald Chi-square = 3.29, df = 1, p = 0.07). However, only 48.9% of all participants answered all knowledge questions correctly. Many participants (56.5%), especially researchers (42%), indicated having at least occasional conversations about the role of genetics in psychiatric conditions with patients and/or family members. Most participants (62.7%) indicated that PRS are not yet sufficiently robust for assessment of susceptibility to schizophrenia; most significant obstacles were low predictive power and lack of population diversity in available PRS (selected, respectively, by 53.6% and 29.3% of participants). Nevertheless, 89.8% of participants were optimistic about the use of PRS in the next 10 years, suggesting a belief that current shortcomings could be addressed. Our findings inform about the perceptions of psychiatric professionals regarding PRS and the application of PRS in psychiatry.
引用
收藏
页码:161 / 170
页数:10
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