Direct-to-Consumer Testing

[摘要] Due to technological advancements, self-testing has become widely accessible to the public. Individuals can opt to have their genome sequenced or their blood tested for markers at a relatively cheap price. These direct-to-consumer services are essentially a commercialization of technologies being marketed to the general masses.Some genomic giants in the industry include 23andMe and Gene by Gene. Their test kits can be delivered internationally and sampling is performed by the user and sent back for laboratory analysis, thus establishing an accessible and flexible service model. Users can opt to test for specific genes that correspond to a potential disease or learn about disease predisposition, drug responses, or genetic characteristics.Other companies offer to quantify a range of biomarkers that can potentially predict the early onset of a disease or condition. Their kiosks and laboratories are situated within pharmacies and the blood tests can be performed without a physician's consent. The results are then electronically delivered to a physician or directly to the consumer, and are subject to self-interpretation.The underlying notion is that such testing may uncover abnormalities that could potentially serve as an early marker of disease. By identifying this pathogenic link at an early, asymptomatic stage, the consumer can possibly take steps to prevent disease later on. However, it is important to keep in mind that due to epigenetics, environmental and other factors a gene sequence is not always reflective of a phenotype. The sequencing only provides minimal information about a possible genetic foundation, yet ambiguous gene expression deems results inconclusive. Likewise, testing for biomarker concentrations in the blood is not necessarily a reflection of a patient's condition. Due to the large variability in individual physiology, there can be ambiguity with self-interpretation. Despite having access to reference ranges/intervals from online sources, many patients are in a poor …

[学科分类] 过敏症与临床免疫学