Pondering On the Way to the Biobank

Personalized medicine is all the rage these days. Much too big a waterfront to cover here, and, as is so often the case, one must be clear how one is defining “personalized medicine.” Often, the application is relatively straightforward; for example, does a person’s particular disease have a feature that makes him or her more likely to respond to a “targeted” new drug? (See Kalydeco for cystic fibrosis, or vemurafenib for melanoma, for two.) Efforts like this are not simple, but relatively uncomplicated.
But often, “personalized medicine” refers to a much more ambitious—and still distant—project: sifting through patterns in people’s entire genomes—all 30,000 or so genes—and discerning something akin to a “fingerprint” that can be used to predict the likelihood of getting a disease, preventing a disease, or responding to treatment. An article in the February 2012 issue of Nature Biotechnology looked at this: “Personal medicine—the new banking crisis” was its title.
It’s now possible to have a machine “read” the entire sequence of all of someone’s genes in a matter of hours for a cost of about $3000. $1000 or less is on the way. A number of major biobanks, consisting of non-profit, academic, and/or government entities worldwide, are collecting people’s samples (blood or other diseased or healthy tissue), and their genomes, in big databases that are analyzable (by really sophisticated computers), with the data sharable. One of the biggest, Généthon in Paris, has banked “300,000 samples from 80,000 people with 400 genetic disorders,” according to the aforementioned article. The first idea is to analyze large groups of people and genes; only later would, it is hoped, the results be able to guide treatment of individuals.
Practical issues include ensuring that the samples are actually usable, that the results from individual tests are reliable, and that there aren’t mixups of samples. But consider also:
• How will any audits/changes in the data be controlled? How can physicians or others trust the results?
• Establishing relevance to any clinical condition requires linking to medical records, electronically to be sure. Yet, reliable and efficient electronic medical records are hardly a reality, in general, as of today. Without the link, one has the specter of “the $1000 genome and the $1,000,000 interpretation.” And we don’t know what genome patterns, if any, may make a big difference in the health of individuals.
• Given that, there is great risk of individuals assuming they can have their healthcare guided by reading their genes, and there are people who would sell that idea to them, today. This is overselling; it’s not ready yet.
And some of the ethical issues are:
• Keeping the information confidential. Current privacy laws may not apply to genetic information. Also, the standard is to “de-identify” specimens so an individual cannot be associated with the genetic test results. But breaches of confidentiality can and do occur, and, eventually, some “re-identification” will be desired if results are to be used for a person’s medical care.
• What constitutes proper informed consent? How much must someone be told about the testing? And what limits must the researchers accept on future testing? In one case, a Native American tribe objected when specimens they thought were to be used for diabetes testing were later used to study genetics of mental illness ancestry, in violation of their values. What if a finding is made that might be clinically significant? Is it required, desirable, or even possible to inform someone of his or her individual result from a biobank’s testing? Is implied consent, or use of an “opt-out” approach, acceptable?
• What are the rules for sharing of specimens or data between groups of scientists? Or across national borders?
• How will discrimination be avoided?
• Should people retain some interest in any commercializable results from testing of their specimens?
Those are for starters. The Presidential Commission for the Study of Bioethical Issues (http://www.bioethics.gov/) is currently looking at the ethical ramifications of large scale human genome sequencing, and has asked for public comment up through May 25. Follow this link for the announcement: http://bioethics.gov/cms/node/676. If you wish to comment, you may do so at [email protected], or by mail to an address provided in the announcement.

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