In Part I and Part II of the “You and the $1000 Genome” series we examined the history of the Archon X PRIZE for Genomics and the success of the International HapMap Project. Here we’ll talk about some of the ethical issues associated with efficient and inexpensive genome sequencing. The value of whole genome sequencing will only be realized if individuals believe they have complete and legal control over their genetic information. I am greatly indebted to a thorough analysis of this issue by John A. Robertson at the University of Texas School of Law (”The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals (pdf).” 2003 The American Journal of Bioethics 3(3):InFocus). Note that this analysis is not intended to constitute answers to any of the ethical questions - it is only meant to be part of the discourse.
The ethics surrounding the X PRIZE competition has led the Foundation to establish an Ethics Advisory Board to identify issues that may be involved in whole genome sequencing and the conduct of the X PRIZE competition. The goal of the Ethics Advisory Board is to not only “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.”
Ownership of DNA and Sequencing:
It is probably obvious that a person has almost total control over their own DNA as long as it is attached to their body. However, all day long we are continuously shedding our DNA into our surroundings, leading to the more difficult question; who owns DNA once it has left the body? If I find DNA on the sidewalk (such as a cigarette, a coffee cup, a piece of hair), does it belong to me or does it belong to the ‘shedder’? This was one facet of a recent New York Times article addressing the extreme tactics that some genetic genealogists have employed to obtain DNA from (potential) family members (”Stalking Stranger’s DNA to Fill in the Family Tree” 2 April 2007, Amy Harmon). Since DNA contains information that can be used to specifically identify a person, should we have total and complete control over our DNA unless we knowingly waive that right?
Informed Consent:
It goes without saying that written informed consent is a vital component of genomic sequencing. Consent is necessary for sequencing, interpretation, and any eventual research. Unique to genomic sequencing and interpretation, however, is the potential for emotional and psychological distress. There are always risks involved with discovering the information contained within our own genomes. As a result, entities, especially commercial enterprises, will have to delicately balance protecting their clients from the emotional consequences of genomic sequencing with protecting themselves from liability. This will necessitate educating their clients of the potential risks of sequencing and interpretation while obtaining legally sufficient informed consent.
The X PRIZE Foundation has directed that the “Genome 100 ″, the 100 volunteers who will contribute DNA to the sequencing competition, must give fully informed consent. Members of the Genome 100 (who will theoretically remain anonymous) will also be asked if they would be willing to contribute their results to a database that will be accessible to others.
The HapMap Project is also concerned about informed consent and has even provided an example of the consent form that they used when obtaining samples for the Project. According to the Project, “[e]ach of the DNA donors gave individual consent to participate in the Project and signed a consent form that grants permission for the DNA samples to be used in future studies approved by relevant ethics committees.” Interestingly, the Project also used teams of geneticists and ethicists to work in the communities to discuss the issues and educate the public about the science of the HapMap Project. Although the process was different in each country, “it involved a combination of individual interviews, focus group discussions, community meetings, and public surveys… and …created a climate in which research could proceed in an atmosphere of greater openness and trust.” This might be a good model for companies engaging in whole genome sequencing and/or genome interpretation.
Risks and Genetic Counseling:
There are numerous risks involved in whole genome sequencing and interpretation, including the discovery of medical and/or behavioral disorders, both present and future. These risks should be addressed by both informed consent (to warn customers of potential dangers) and genetic counselors (to help customers deal with the results of sequencing). The UCSC Genome Bioinformatics Group, for instance, has strongly supported the efforts of the National Human Genome Research Institute to train individuals to provide professional genetic counseling.
Storage:
How should samples be used once the DNA has been sequenced? Should they be stored or should they be destroyed? This will undoubtedly be an issue requiring informed consent.
Perhaps more importantly, how should results be stored? It is vital that results be protected from unlawful detection or use under any circumstances. Online storage will require advanced theft protection measures. Results shared in hard copy, such as via DVD, should also be strongly protected to avoid theft (a whole new type of identity theft). According to the X PRIZE Foundation, “[a]ll 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.”
Discrimination:
Almost everyone would argue that discrimination on the basis of genetic information is not an acceptable use of genomic sequencing. Although there is no federal prohibition of this type of discrimination, many states have their own laws that prevent genetic information discrimination. And it appears that the federal government will soon pass the Genetic Information Nondiscrimination Act (See “GINA, A Primer“) to create an extensive nationwide prohibition of discrimination on the basis of genetic information.
Sequencing the Genomes of Minors:
Minors often have little choice in their medical treatment because that duty is carried out by their parents or legal guardians. But should parents have the right to sequence their children’s genomes? How about the genomes of embryos that are not implanted? What if there is a medical necessity? Perhaps sequencing in those situations should be limited to only those regions that are involved in the medical situation at hand.
The “Geneticization” of Society:
In his article, Mr. Robertson coins the phrase “geneticization of society” to address the concern that our genetic information will come to represent our identities. In our society, a person is ideally represented by their goals and achievements, not by their genetic information. Unfortunately, just as people are judged by their physical appearance in today’s society, there is the danger that people will be judged by their genetic identity in tomorrow’s society. Are we limited by our genetic information, or are we more than our own genome? In my opinion, our identity is what we make it, not a sequence of A,T,C, and G’s.
While researching the ethics of the $1000 Genome, I came across a terrific quote at ( Genetic Engineering & biotechnology News) by Chad Nusbaum, Ph.D., co-director of the genome sequencing and analysis program at the Broad Institute: “Science is moving way ahead of the ethics. We can’t stop the technological advancements but the gap keeps widening. It is our responsibility to understand the implications of our work and educate the public and elected officials so that a proper dialog can take place.”