Translation of genetic information into healthcare use

Abstract

The genome era has seen the interplay of two powerful and disruptive forces in healthcare, those being genetic information and information technology. Following the investment of several billion US dollars, the international Human Genome Project provided a vast amount of information that was usually well outside of a healthcare service context. Investment in associating genetic information with human disease and disease epidemiology was limited. This disconnect has left the public unsure of when particular genetic discoveries are still in research or ready to be delivered as services. How we use genetic information in healthcare varies over the two major subdivisions of genetic information, those being acquired versus heritable disease traits. Even within the heritable diseases and traits the kinds of information needed to integrate genetics into healthcare varies over the three major categories of genetic influence, those being: (1) the usually rare Mendelian diseases with very strong genetic influences;(2) the genetic susceptibilities and predispositions with moderately strong genetic influences that are modulated by the individual’s genetic background and environmental influences;and (3) the common diseases with weak genetic influences and strong lifestyle and other environmental influences. Each area will need different strategies for educating the workforce, improving the evidence base, and developing and providing the appropriate clinical guidance to practitioners. Information technology will clearly be central to the development of an effective translational research infrastructure and has its place in all of the aforementioned areas.