My Snippi*E: 依據使用者個人SNP Profile提供疾病相關的環境因子資訊的個人化保健系統，以氣喘做為開端

Abstract

近年來，全基因體定序的技術大幅前進，成本驟降。全基因組關聯研究(Genome Wide Association Studies)中，發現許多和疾病相關聯的SNP。再加上個人的SNP profile容易取得，造就了許多商業團體提供個人化基因檢測保健的服務。就單方面提供基因序列資訊的服務的技術已開發得相當完善。但如果要把環境因子也列入考慮，這部分還有許多研究的空間。而事實上，有相當多的基因與環境之間的交互作用(Gene Environment Interactions)是會和疾病產生關聯的。因此，將環境的資訊提供給現有的基因檢測系統，除了能將定序技術發揮致極之外，對使用者而言，能獲得較完善的基因檢測結果。本研究建構了一個網站工具: My Snippi*E，使用者只須將個人的SNP Profile輸入，便能得到數種對於氣喘相關疾病友善的(protective)或有危險的(risk)環境因子資訊。此網站用簡單易懂的敘述取代學術專業術語，也更貼近使用者的需求。相較於疾病的相對風險(Relative Risk)，環境因子這項資訊能提供使用者更具體的生活保健資訊。此外，在未來，使用者可以藉由可攜式無線裝置，獲得這些環境資訊，相較於傳統的書面檢測報告，是一個更動態的服務技術。本研究成功地將基因序列所獲得的資訊，從實驗室帶到使用者的生活中。為環境因子資訊打開新的一頁。

The cost of genome-wide sequencing has been dropping steeply. Numerous diseases-associated single nucleotide polymorphisms (SNP) identified from genome-wide association (GWA) studies and easily accessing personal whole genomic SNP profile boost the opportunity of serving personalized health care genetic test for business organizations. So far piles of scientific efforts related to sequence-only information have benefited some parts of the general public. Still the endeavors to interpret the results of gene-environment interactions (GEI) are inadequate. Since there may be considerable gene-environment interactions account for most complex diseases. Therefore, supplementing diseases associated GEI information to present sequence-based only genetic test systems may maximize the advantage of advancing sequencing technologies and benefit users who intend to live healthier by doing personalized genetic test. We designed a personalized health care system named My Snippi*E providing plenty of risk and protective environmental factors of Asthma as well as translating the scientific descriptions into understandable expressions for the general public. Whole family GEI comparison is also available with the system. This task is the beginning of expressing more complete information stored in genomic sequences from high-tech laboratories to ordinary daily life.