New epigenomic and genomic frontiers in personalized medicine: direct customer testing, are we ready?

Abstract

Direct-to-Consumer genetic testing provokes both excitement and concern in physicians and scientists alike. The enormous potential of these tests is partially contingent upon the complexity of their design, which can lead to difficulty in interpreting results for the everyday customer. At present, the scientific community lacks a cohesive stance on the proper regulations for these tests. The lack of regulation is concerning both for the consumer and the field of personalized medicine. The problem is not purely scientific, but also legal. In the United States, numerous private companies have emerged introducing low-cost genetic and epigenetic kits: although individual companies can implement privacy protection policies, there is no federal law that imposes specific requirements. Since these kits are shipped around the world, the problem becomes global and in countries like Italy and Europe very strict privacy laws may represent a problem for autonomous use of these kits. The medical, scientific and legislative communities must work in tandem for the development of specific laws that include these new technologies, as well as precise guidelines for the correct use and validation of these resources. If used improperly, these new technologies could generate public health problems. Moreover, their misuse could also increase the amount of unreliable scientific information available to the general population regarding health issues.