Hayashi Mikihiro, Watanabe Atai, Muramatsu Masaaki, Yamashita Naohide
Department of General Medicine, School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.
The Cancer Institute Hospital of JFCR, Tokyo, Japan.
BMC Res Notes. 2018 Apr 3;11(1):223. doi: 10.1186/s13104-018-3330-9.
There are many direct-to-consumer (DTC)-type personal genomic testing (PGT) services commercially available to the public, providing the specific disease susceptibilities of individuals. While these services do not appear to stimulate disease-prevention behavior, few studies have addressed the methods to do so. We investigated the effectiveness of combining a consultation with a physician with the delivery of test results from a DTC-type PGT, as a preliminary study to identify the effective genomic testing for disease-prevention. A prepared physician disclosed the PGT results of twenty healthy subjects and provided a specific consultation on the high-risk diseases for each subject. The effects on the sense of health, understanding of possible future diseases, and preventive behaviors for each subject were examined pre-PGT, post-PGT, and 3, 6, and 12 months post-PGT.
Significant increases between the pre- and post-PGT scores were observed for the awareness of lifestyle effects on developing those diseases (P < 0.05) and the awareness of the ability to influence disease onset (P < 0.01). The follow-up questionnaire results showed that over 60% of the subjects changed their lifestyles in favor of disease prevention. These results suggest that combining the DTC-PGT with a careful physician consultation may be effective at motivating people toward preventive behavior.
有许多面向消费者（DTC）类型的个人基因组检测（PGT）服务可供公众商业使用，这些服务能提供个体的特定疾病易感性。虽然这些服务似乎并未激发疾病预防行为，但很少有研究探讨这样做的方法。我们研究了将医生咨询与DTC类型PGT的检测结果相结合的有效性，作为确定有效疾病预防基因组检测的初步研究。一位经过准备的医生向20名健康受试者披露了PGT结果，并就每位受试者的高危疾病提供了具体咨询。在PGT前、PGT后以及PGT后3个月、6个月和12个月，对每位受试者的健康意识、对未来可能疾病的理解以及预防行为进行了检查。
在PGT前后，对于生活方式对这些疾病发生的影响的认识（P < 0.05）以及对影响疾病发作能力的认识（P < 0.01）得分有显著提高。后续问卷调查结果显示，超过60%的受试者改变了生活方式以利于疾病预防。这些结果表明，将DTC-PGT与医生的仔细咨询相结合可能有效地促使人们采取预防行为。
