An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

被引：37
|
作者：
Brett, Gemma R. [1 ,2 ]
Metcalfe, Sylvia A. [1 ,2 ]
Amor, David J. [1 ,2 ]
Halliday, Jane L. [1 ,2 ]
机构：
[1] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
[2] Univ Melbourne, Dept Paediat, Parkville, Vic 3052, Australia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 08期
基金：
英国医学研究理事会;
关键词：
direct-to-consumer; health professional; genetic testing; genetic counsellor; attitudes; SOCIAL NETWORKING; PERCEPTIONS; GENOMICS;
D O I：
10.1038/ejhg.2012.13
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Direct-to-consumer genetic testing (DTC-GT) allows individuals to obtain genetic tests directly from companies without necessarily involving health professionals. This study explores genetic health professionals' opinions of health-related DTC-GT and the reported frequency of individuals presenting to clinical genetics services after undertaking testing. Genetic counsellors and clinical geneticists, members of the Human Genetics Society of Australasia, completed an online survey in mid 2011. The 130 genetic counsellors (estimated response fraction=43%) and 38 clinical geneticists (estimated response fraction=46%) had mixed opinions regarding DTC-GT, with only 7% confident in accurately interpreting and explaining DTC-GT results. Nineteen respondents (11%) reported one or more client(s) referred to them after undertaking DTC-GT. Descriptions of 25 clients were extracted from responses, and respondents reported that all clients were concerned for the health of either themselves or family members. Most clients presented to genetic clinics specifically as a result of their DTC-GT (96%) and were self or GP referred (92%). Respondents perceived that their clients typically undertook DTC-GT because they wanted to identify monogenic conditions, including carrier testing and/or know their susceptibility or predisposition for complex conditions (88%). The majority of clients needed help interpreting DTC-GT results (80%), however in general were not questioning the validity of their DTC-GT results (92%) nor seeking further genetic testing (84%). Currently, DTC-GT is not a major reason for referral to clinical genetics services in Australia and New Zealand and the majority of genetic health professionals lack confidence in being able to accurately interpret and explain DTC-GT results. European Journal of Human Genetics (2012) 20, 825-830; doi:10.1038/ejhg.2012.13; published online 8 February 2012
引用
收藏
页码：825 / 830
页数：6
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