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Stanford Researcher Addresses Genome Ethics and Ownership at AAAS

By Andrea Anderson

SAN DIEGO (GenomeWeb News) – At the American Association for the Advancement of Science annual meeting this weekend, Stanford University genetics and pediatrics researcher Uta Francke discussed ethical concerns involved in genome sequencing and analysis — and the increasingly public availability of genomic information.

Given the nature of DNA, these ethical issues don't just affect individuals who choose to have their genomes sequenced, analyzed, and publicized, but also other members of their family, raising concerns about an individual's right not to learn their genetic information, she said. And because much of the information in the genome is still poorly understood, Francke argued during the session on genetics and ethics, so are the risks.

The genome is both a physical and informational entity, Francke explained. And an increasingly improved understanding of variation within the genome — in the form of SNPs and structural variants such as insertions, deletions, inversions, copy number changes, and segmental duplications — can provide information that's relevant to a range of research problems.

For instance, she described how the discovery of SNPs and technology based on these variants have facilitated everything from genome-wide association to population and ancestry studies — and spawned the development of direct-to-consumer genotyping services such as 23andMe, Navigenics, and DecodeMe.

Nevertheless, Francke who serves as a consultant to 23andMe, explained that — at least at the moment — genomic information has limited predictive power and is "only probabilistic" rather than deterministic. In addition, she emphasized, a host of other epigenetic and environmental factors interact with the genome.

As such, Francke likened current individual genome sequence projects to "publishing a book that cannot be read."

Even so, the information that can be gleaned from an individual's genome is expected to increase dramatically in the coming years, raising concerns over the implications that future genomic discoveries will have on individuals who are having their genomes sequenced and made public today.

"The dim utility of genomic testing is quite limited at this time, but this will change," she said.

Although some protections are already in place — including the Genome Information and Nondiscrimination Act, which was signed in 2008 and came into effect in late November of last year — Francke noted that there is still a lack of protection against genetic discrimination as it relates to life insurance and long-term care.

Among other concerns that arise from the prospect of widespread individual genome sequencing: the idea that an individual's blood or skin samples could be distributed to a third party without his or her knowledge or consent, possible genome sequencing or analysis of non-consented individuals, or the reconstruction of an individual's genome based on sequence from his or her family member(s).

Although such scenarios are possible, though, Francke explained that with the recognition of such possibilities and the adoption of adequate protections it should be possible to harness the potential of genome sequencing to improve treatments, understand human population patterns, and more without compromising individual autonomy or the rights of those who may not want access to the information coded in their genomes.