Personal Genome Project

Important considerations

I. Benefits of participation

We wish to emphasize that there may be no personal benefit for participants in the PGP. Most benefits are societal in nature and will not be realized immediately. Although one of the goals of the Personal Genome Project is to increase our understanding of human health and disease, this is but one preliminary step in building the capability to apply these learnings to medical practice, improve clinical decision-making, or positively impact personal health.

While there may be opportunities to provide participants with recommendations for diagnostic tests or medical consultation, in the near-term, the most likely outcomes of participation are the generation of large numbers of hypotheses by researchers about specific traits, the scientific evaluation of these hypotheses, and an expansion of our understanding of how genetic variation contributes to both the diversity and connectedness of human experience. Moreover, we should not expect to make statistically significant discoveries while the number of participants is small. Although we expect a high level of interest from volunteers, the actual pace at which the project will expand to large numbers is unknown.

Motivations for participating in the Personal Genome Project might include:

Confining motivations to participate in the project to curiosity, science, and eventual societal impact is an intentional attempt to minimize potentially coercive lures of personal benefit. We also want to be realistic and set accurate expectations.

II. Risks of participation

The Personal Genome Project aims to reduce the risks associated with personal genome sequencing for individuals and society through the development and promotion of thoughtful research practices and policy. We are committed to providing interested volunteers and enrolled participants in the PGP with the best information available so that they can make informed decisions about sharing their DNA sequence and personal information with the research community and the general public.

Because personal genome sequencing is a new human endeavor, as a society we lack a detailed understanding of all risks posed by an individual's genome sequence being known. The improvement of our understanding and management of these risks is as important a contribution to the long-term utility of personal genomics as any other this project and its participants may achieve.

Individuals interested in volunteering to participate in this project must be comfortable dealing with the risks that may be presented to them and understand that the variety and likelihood of all risks cannot be reliably predicted yet. At a minimum, individuals should be comfortable with a variety of worst-case scenarios and known risks.

In principle, anyone with sufficient knowledge could take a participant's genome and/or other personal information and use them to:

We are in the process of developing educational materials about risks and other aspects of the PGP for individuals interested in enrolling in the PGP.

III. Privacy

We question the long-held belief that research endeavors involving human genome sequencing can guarantee, in perpetuity, the confidentiality or anonymity of the information revealed from a personal genome sequence. For example, it is becoming easier to glean personally identifiable knowledge from DNA sequences, including hair and eye color, height, and facial features. Protecting the identity of individuals is particularly difficult while the number of personal genome sequences existing in the world is small.

Individuals interested in volunteering to become a participant in the PGP should not be hesitant about knowing and publicly sharing any part of their genomic, health, or medical data. Individuals enrolled in the project will be asked to voluntarily share medical records, to take questionnaires about their health, medical history and physical traits and to contribute other relevant data, such as a high-resolution facial photograph.

While the Personal Genome Project will not intentionally associate your name with your genomic, trait or other data, the identifiable nature of those data means that it is possible - perhaps even likely - that you will be identified, publicly and by name, with the data you contribute to the project. This is true even if you choose not to contribute certain data (for example, a facial photograph) as genomic data alone may be identifying in some situations.

Because we cannot guarantee your privacy, we feel the most ethical and practical solution at this time is for PGP participants to be enrolled with the expectation of full public data release and without any promises of privacy, confidentiality or anonymity. If you are considering enrolling in the Personal Genome Project you should be sure that you understand and accept the possibility that your genomic, health, medical and other data will not only be made public but may be publicly identified, by name, as yours. You should also remember that learning about your own genome implicates your family members to various degree, and you should consult with your family before choosing whether to participate in the PGP.

We urge you to think carefully about these privacy issues, as well as the other considerations described on this page and in the PGP's consent forms. Any hesitation now could be cause for regret at a later time, after it is too late to remove your data from the public domain.

 

 

 

 

Updated 04/22/2011