Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

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• 作者：Saumya Shekhar Jamuar^a ; ^b ; Jyn Ling Kuan^c ; ^h ; Maggie Brett^d ; Zenia Tiang^c ; ^h ; Wilson Lek Wen Tan^c ; ^h ; Jiin Ying Lim^a ; Wendy Kein Meng Liew^a ; ^b ; Asif Javed^c ; Woei Kang Liew^a ; Hai Yang Law^a ; ^b ; Ee Shien Tan^a ; ^b ; Angeline Lai^a ; ^b ; Ivy Ng^a ; ^b ; Yik Ying Teo^e ; Byrappa Venkatesh^f ; Bruno Reversade^g ; Ene Choo Tan^d ; Roger Foo^c ; ^h ; ^{mdcrfsy@nus.edu.sg" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Incidental findings ; Genomic sequencing ; Personalized medicine
• 刊名：EBioMedicine
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：5
• 期：Complete
• 页码：211-216
• 全文大小：254 K

文摘

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We studied the prevalence and type of incidental findings in genomic sequencing data of 377 individuals from South East Asia.

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We detected pathogenic variants in 4 individuals and likely pathogenic variants in 2 individuals

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Overall, the prevalence of incidental findings in our cohort was 1.6%

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The burden of incidental findings may not be a significant barrier to implementation of genomics for personalized medicine

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Incidental findings (IFs) in genomic sequencing, or incidentalome, refer to variants in genes that may be of medical significance, but unrelated to the patient's primary condition. In analyses of Western cohorts, the prevalence of IFs is reported to be between 0.86% and 8.8%. A study of 196 Korean individuals revealed a frequency of 6–7%.

The data on prevalence and type of IFs in Asian populations is lacking. In our cohort of 377 individuals, the cumulative prevalence of IFs is 1.6%, which is similar to what is reported in the Western population. This is the largest study so far that examines IFs specifically in an Asian population.

The cumulative prevalence of IFs through genomic sequencing is low and the incidentalome may not be a significant barrier to implementation of genomics for personalized medicine.