Introduction
The ability to perform whole human genome sequencing has stimulated research into the genetic basis of disease and has the potential to transform the practice of medicine in many respects. However, the current ability to utilize whole human genome sequencing is limited by the cost and speed of existing technology. Rapid, inexpensive whole human genome sequencing is a national priority, which has motivated the work of many researchers, both publicly and privately funded. The Archon X PRIZE for Genomics seeks to stimulate breakthrough innovation in the field of genomic sequencing by offering a financial incentive for achieving this goal. The X PRIZE Foundation recognizes, however, that there are ethical, legal, and social implications of this type of innovation that deserve serious consideration. An Ethics Advisory Board has been established to help identify these issues and to ensure the ethical conduct of this competition. This document sets out preliminary ethical guidelines for the competition. It is expected to evolve to be responsive to emerging ethical and social concerns associated with technological advancements in genomic research.
As an organization committed to innovation and progress, it is our goal not only to comply with existing ethical and legal standards, but to promote public dialogue about some of the more controversial ethical, legal, and social implications of emerging genomic technology and to actively participate in setting standards for the future use of these technologies in research and clinical care. Interactive public events will be organized over the next several years to help promote public dialogue and more fully explore the myriad ethical and social issuesassociated with genomic sequencing. It is anticipated that the events will help to refine these guidelines.
Informed Consent
The ethical conduct of research involving human subjects requires the informed consent of research participants. The rules of this competition require teams to successfully sequence 100 DNA samples. Anonymized samples will be obtained from a commercial repository. No personal or medical information will be collected. However, because it may be possible to uniquely identify an individual from DNA sequence data (see section on Privacy below) informed consent consistent with the type of activities associated with this competition will be required.
At the completion of the competition the winning team(s) will be paid to sequence the genomes of 100 volunteers (the "Genome 100"). Several celebrities, benefactors, and members of the public have already publicly announced their desire to participate in the Genome 100, but no samples will be collected or analyzed without the participants' fully informed consent.
Data release for use in future research: A primary goal of the Archon X PRIZE for Genomics is to stimulate research using innovative sequencing technologies. The sequence of an individual's genome can be very useful to many researchers around the world studying the association between genetic variation and disease. In an effort to promote research, individuals whose DNA may be sequenced as part of this competition will be given the opportunity to authorize the release of their sequenced data into a database accessible to others. Participants in the Genome 100 will also be asked if they would like their data to be shared and used in future research. An appropriate consent process will be developed to ensure that the highest standards of consent are met. Every effort will be made to protect the privacy of participants whose data are shared.
Offering data and research results to participants: The goal of the Archon X PRIZE for Genomics is to stimulate technological development in the field of genomic sequencing. The competition (and the completion of the Genome 100) will result in the generation of raw whole human genome sequence data. No secondary analysis of the data will be performed as part of this competition. In an effort to secure the integrity of the competition, individuals whose DNA is sequenced as part of the competition will remain anonymous. No information or sequence data will be offered to those who are selected.
It is difficult to predict how the raw sequence data generated as part of this competition may be analyzed and used in the future, but the hope is that it will prove to be a clinically valuable component of an individual's health record. Individuals who participate in the Genome 100 (or their next of kin, unless otherwise specified), will therefore be offered an electronic copy of their raw sequence data for their personal records. Those who choose to retain a copy of the data will be counseled and encouraged to share the data with their physician.
Privacy
An individual's DNA sequence is unique to them. Although it is currently difficult to uniquely identify an individual from genomic information alone, it is not impossible and it will only become easier as genomic technology advances. This raises serious privacy concerns, which can be addressed in various ways.
Data security: A significant amount of important research is being conducted to ensure that genomic data are stored in secure databases. While there is no guarantee of full privacy protection, advances in the field of bioinformatics have significantly increased the security of stored genomic data. All data generated as part of the X PRIZE competition will be stored in secure databases. The X PRIZE Foundation encourages continued research into creative and secure database structures.
Legislation: There is currently no comprehensive legislation in the United States that protects unauthorized access to and use of genetic information. The federal Health Insurance Portability and Accountability Act (HIPAA) prevents unauthorized access to identifiable protected health information, but it does not necessarily cover genomic analyses of biological specimens that are not linked to other types of identifying information. Similarly, several states have passed legislation that prohibit insurance and employment discrimination on the basis of genetic information, but state laws have been described as "piecemeal" and there is currently no federal genetic anti-discrimination law in the United States. Some international laws provide greater protection, but again, there is tremendous variation in the types and levels of protection afforded internationally. There is considerable debate about the merits of genetic-specific legislation versus more robust general health information laws. The X PRIZE Foundation believes that this is an important issue that deserves greater consideration. We hope that the X PRIZE competition stimulates public dialogue and debate about this and related legal, ethical, and social issues in genomics.
Consent: The privacy risks associated with the generation of genomic sequence data are currently small, but may increase as technology develops. The X PRIZE Foundation believes that advances in genetic research are dependent upon public trust and willingness to participate in important research activities. We therefore endorse a policy of transparency, open communication, and informed consent (see Informed Consent section, above).
Intellectual Property
There is considerable debate about the proprietary nature of DNA sequence data and the associated intellectual property rights of scientists. The incentive for winning an X PRIZE is not simply the millions of dollars the winning team(s) will gain, but the right to keep all of the intellectual property and commercial potential associated with the technology they develop.
As such, the X PRIZE Foundation makes no intellectual property claims associated with this competition. Nor do we place any restrictions on the rights of competitors to patent the technology developed as part of the X PRIZE competition. It is anticipated that competitors will seek patents for their inventions in accordance with the laws of their home country, as is customary with innovative technology.
Disclaimer:
The X PRIZE Foundation may, but is not obligated to, update this Position Statement from time to time. Please periodically check the web site (genomics.xprize.org) for any changes.
