Decades of work by many dedicated scientists and engineers have made possible the rapid decline in the cost of genome sequencing from astronomical heights to where it is today. Ongoing innovation in these technologies will provide even cheaper, more accurate, and faster DNA sequencing. Some of these innovations will come directly from people actively involved in the Personal Genome Project. Likewise, the potential scale of this project itself may drive down price and allow wider access to global populations. In addition to sequencing technologies, there is significant need for innovations in software and database technologies to help people interpret and use personal genomes.
The assessment of associations between human genetic variation, physiology, and disease risk has been an important and growing area of recent scientific research. Over time personal genomics will contribute to this research by creating a dataset of personal genome sequences that can be evaluated along with the biological, population, medical, and physical data required for association statistics. This pool of combined data may make possible preliminary screening of proposed associations prior to more rigorous or focused data collection. Personal genomics will also supply data for additional areas of scientific research by providing new information on the kinds and levels of variation that exist generally throughout and between individual genomes. It will also provide opportunities to assess non-medical associations that may not have as high priority as medical studies, e.g. biometric associations. The use of personal genomic information will also be of sociological interest.
The emergence and growth of personal genomics presents many wide-ranging ethical, legal, and social issues (ELSI) for humankind. These include balancing the needs for privacy of genomic and personal information against the needs of research to collect and analyze them; the potential impact of personal genomics on medicine, insurance, and economics; the impact on decision-making that employs genomic information that may be complex and of uncertain significance; potential risks of misinterpretation and explicit misuse of personal genomic information; and legal and policy issues concerning ownership of this information. Consideration of these issues was an essential component of the original vision and design of the project and will continue as an ongoing source of activity and guidance.
Personal genomics has immediate importance to health care: A personal genome will provide at a minimum the information content of a large number of individual genetic tests. In some cases this information will predict risk for serious disease that will encourage follow-on tests or medical interventions, in others it will encourage long term surveillance for signs of disease development, but a great deal of the information will be neutral or of uncertain significance. Two high priorities for the field of personal genomics are to develop the education and support services that will enable individuals to understand and use their personal genomic information, and to raise awareness of the implications of personal genomics for doctors, medical educators, medical economists, insurers, and policy makers. Stakeholders in the field of personal genomics must actively foster collaborations that will develop approaches to addressing these implications.
Personal genome sequences will give their owners new information about themselves to assimilate into their lives. Information with implications for personal health care may lead to medical interventions or monitoring activities, other information may be sources of personal insight, curiosity, and speculation. People may find they have gene variants that are proposed or speculated to be associated with physiological and psychological traits. Individuals will find new and creative uses for personal genome information, e.g., friends may swap sequence information about genes of common interest. A principal need will be to provide educational resources that will help individuals identify and distinguish false claims, guesses, speculations, and hypotheses with different degrees of confirming evidence. But a second need will be to develop mechanisms to encourage individual curiosity about genomics and channel it into public appreciation in and interest about new areas of scientific research.
Adoption of personal genome sequencing will create a marketplace for commercial products and services that promise to enhance the use or analysis of genomic information by individuals, health care professionals, and others. As such commercial products become available it will become increasingly important to have mechanisms that review them and provide information as to whether they properly perform their advertised functions. These reviews could potentially range from FDA approval for products associated with specific medical applications, to industry-developed standards or product rating conventions, to evaluations by independent critics, academics, or watchdog organizations, and to informal user experience reports in periodicals or on the web.
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