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소비자 직접 거래 방식의 유전자 검사 서비스 비교

hongiiv 2010. 1. 10. 03:13
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전세계적으로 소비자 직접 거래(Direct-to-consumer, DTC) 방식의 유전자 검사를 하는 회사는 23andMe, Navigenics, deCODE가 대표적이라고 할 수 있는데, 이들 서비스에 대한 내용이 2009년 하와이에서 개최된 ASHG Annual Meeting의 포스터 나와서 간단히 소개하려고 합니다.

다름 아닌, 크레이그 벤터 연구소에서 5명에 대해서 23andMe와 Navigenics의 서비스를 받아보고 그를 비교해봤다고 합니다. 결과는 향후 시퀀싱이 발전한다면 rare한 변이로 인해 발생되는 질병도 곧 알 수 있을 것이라면서, 향후 full genome 시퀀싱에 대해 부푼 꿈을 이야기하고 있네요 ^^;; 근데 왜 이런걸 벤터가 포스터를 냈을까요? 아마도 향후 full genome 시퀀싱의 가격이 내려가면 벤터도 이런 유전자 검사 사업을 하려고 하는것 아닐까?하는 생각이 드네요.

두번째 포스터는 23andMe와 deCODE의 서비스가 전문가에 의해서 정보가 제공되는지, 웹 페이지에 면책조항이나 배상청구에 관한 정보가 올바른지 등에 관한 내용을 비교한 내용입니다.

이상 서로 다른 두가지 측면에서 DTC 서비스를 바라본 포스터들이었습니다.


A Comparison of 23andMe and Navigenics Predictions for Five Individuals.

P.C. Ng1, S.S. Murray2, S. Levy1, J.C. Venter1.
1) Genomic Medicine, J. Craig Venter Institute, San Diego, CA;
2) Scripps Genomic Medicine, Scripps Health and The Scripps Research Institute, San Diego, CA.

Direct-to-consumer (DTC) companies such as 23andMe, Navigenics, and deCODE provide disease risk predictions to customers who have their DNA genotyped. We compare the predictions between two DTC companies, 23andMe and Navigenics, for five individuals. We find that on average, approximately a third of the predictions do not match between the two companies. The primary reason for differences in disease prediction is determined by whether the companies used the same markers with moderate to high odds ratio (OR). This indicates that markers with high OR should only be included if there is strong evidence to suggest that they are real, and that these markers have been verified in replication studies. While consensus among which markers to include will cause prediction agreement between the DTC companies, the markers that are currently used may not have good predictability because their effect size is still small. This may be improved by sequencing in the future, when rare variants with large effects might be identified.

Direct-to-consumer personal genomic services: An exploratory case study of product claims, disclaimers, and performance.
R. Sterling1, S. Adams2, H. McLeod3, J. Evans4.
1) Center for Genomics and Society, University of North Carolina, Chapel Hill, NC;
2) School of Medicine, University of North Carolina, Chapel Hill, NC;
3) School of Pharmacy, University of North Carolina, Chapel Hill, NC;
4) Department of Genetics, University sof North Carolina, Chapel Hill, NC.

Advances in genomic research have enabled the commercialization of whole genome profiling or personal genomic services (PGS). Direct-to-consumer (DTC) marketing and sale of PGS has raised concerns among clinicians, researchers, and policy makers.

In 2008, the Secretary’s Advisory Committee on Genetics, Health and Society reported 29 gaps in the oversight of genetic services and New York and California issued a provisional moratorium on the DTC sale of PGS, fueling debates about whether restrictions that limit consumer choice are warranted to avoid potential harm to consumers. As policy makers work to improve oversight of genetic services, the continued DTC sale of PGS warrants examination of advertising. Although federal regulations do not specifically address advertising for genetic services, various laws and recommendations set forth basic requirements and a normative standard.

In this study, we purchased two PGS kits from two companies (23andMe and deCODE) and examined: 1) whether websites provided information recommended by experts, 2) website claims and disclaimers, and adherence to Federal Trade Commission (FTC) requirements for product advertising, and 3) whether claims were supported by product performance.

In our content analysis of websites, we found both PGS companies presented information on topics repeatedly recommended by experts, such as lab certifications, test limitations, and privacy. However, they did not meet FTC requirements that disclaimers be presented in close proximity to claims. FTC also requires that disclaimers qualify and not contradict claims; however, we found several examples of disclaimers that contradicted claims, particularly in regard to medical relevance. Finally, our independent genotyping of submitted specimens confirmed the accuracy of genetic profiles reported by both companies, but reported risk profiles showed significant variability. Of the 14 conditions profiled by both companies, risks for five conditions were reported in opposite directions for the same specimen. The current lack of a “gold standard” to guide the interpretation of genotypic profiles is a substantial limitation to the utility of PGS and poses a major challenge to advertisers charged with both increasing PGS sales and avoiding deceptive advertising.

We encourage PGS companies in the US and abroad to adhere to FTC requirements regarding product claims and disclaimers to enable informed decision-making by consumers.
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