23 and You? Genome research, direct-to-consumer genetics and informed consent
09 July 2012By
Dr Allyse is a Post Doctoral Fellow at the Stanford Center for Biomedical Ethics, Stanford University, California
Appeared in BioNews 664When US based, direct-to-consumer genetic testing company 23andMe announced last month that it had obtained a patent on a method for determining predisposition to Parkinson's disease, it highlighted, perhaps inadvertently, a growing area of unresolved tension between clinical, commercial and research interests.
Given that 23andMe was careful to present the patent as an unalloyed good in the pursuit of a cure for Parkinson's, it was - perhaps - surprised that the response from its customer base was not universally positive. A small but vocal group of customers was less than enthusiastic. 'I had assumed that 23andMe was against patenting genes and felt in total cahoots all along with you guys', one user wrote on the company's blog; adding: 'If I'd known you might go that route with my data, I'm not sure I would have answered any surveys' (1).
But if 23andMe was surprised - it shouldn't have been. There is a considerable history in the USA of protest when a person's genetic information is used to enrich or benefit someone else without their knowledge. In the US legal case of Greenberg v Miami Children's Hospital Research Institute the parents of children with Canavan disease sued the research institute after it used their children's tissue samples and patented the results. The understanding of the families had been that the research would remain in the public domain (2).
In the cases of Beleno v Texas Department of Health Services and Bearder v The State of Minnesota parents sued state health agencies for using newborn bloodspots collected for routine disease screening for a wide range of genetic research without their knowledge. After settlement, the state of Texas was forced to destroy thousands of blood spots and change its consent policy for prenatal screening (3).
Likewise, the Havasupai Tribe of northern Arizona sued Arizona State University when they found out that researchers had used genetic samples, initially collected from the small, isolated tribe for the purposes of diabetes research, in studies of topics ranging from schizophrenia to human migratory patterns. Not only did the retention of biological samples from deceased people violate deeply held cultural beliefs among the Havasupai, but they made it clear that they had given samples for the purpose of researching diabetes, which is highly prevalent in the Havasupai population and would have refused to give samples to other forms of research. The University eventually settled the case for a US$700,000 cash payment, among other concessions, and returned the samples (4).
The common thread among these and other cases is knowledge of what someone intends to do with your genetic information, especially if it entails profit. Many people genuinely want to contribute to the progress of medical research but the process of biomedical research is heavily predicated on trust. Trust that scientists and doctors are concerned with the public interest and that they are capable of dealing fairly with research participants who entrust to them their genetic information. Belated discoveries that expectations and reality do not mesh engender outrage, feelings of betrayal, and the possibility that participants will begin to avoid involvement in future research.
On the other hand, researchers are in a tough position too. Given the speed of scientific progress in genetics, it is virtually impossible to anticipate what kinds of research will be possible in the future or what previously unforeseen benefits might come of using genetic samples beyond the scope of the original consent? For example, some of the samples in existing databases are very old - do we destroy them, ignoring the extremely valuable information they might provide, because their donors don't know what we are doing with them? Even if we tell participants that we are going to use their samples for anything we can think of, can they really give truly informed consent amid such uncertainty (5)?
Furthermore, modern research institution researchers have a duty to turn potentially profitable discoveries over to their institutions to develop for the commercial market. Those revenues might, in turn, fund other important research. From 23andMe's perspective, patenting is most likely a necessary potential revenue stream to boost its research arm 23andWe.
Is there a solution to this stand-off? Perhaps, although some very smart people have yet to find it. It seems clear, however, that at least part of it has to do with disclosure. As 23andMe points out, its online consent form tells customers: 'If 23andMe develops intellectual property and/or commercialises products or services, directly or indirectly... you will not receive any compensation' (6). But it does not mention the word 'patent', nor state how it intends to defend its intellectual property rights against researchers or pharmaceutical companies. As customer reaction to its patent announcement seems to indicate, more attention needs to be devoted to ensuring that customers of commercial genetics companies (of any kind) are fully aware if the company intends to retain and conduct research on customer samples and potentially profit from the results.
This is essential not just from a legal perspective - existing consent forms will probably protect companies from legal liability - but from an ethical and practical perspective. Voluntary research participation is the cornerstone of modern bioethics and it goes to the core of what we value of individual self-determination and respect. It is not enough to say that what participants don't know won't hurt them - it is unlikely that any direct benefit or harm will ever attain to a tissue donor based on the genetic research conducted on their samples. But from an ethical perspective, it is possible to violate someone's autonomy even if they don't know you're doing it.
There are practical issues to consider as well - biomedical companies who fail to ensure honest and open communication with their customers about their true intentions in using genetic information, may find it increasingly difficult to build up the kind of large biobanks they need to do genuinely useful research.
Whatever one thinks about the ethics of gene patenting, the ethics of respecting the individual rights and autonomy of those on whom the future of biomedical research depends are pretty clear. If one plans to conduct research on humans then one must follow the principles of ethical research conduct.
Author's acknowledgment: Special thanks to Dr Nanibaa’ Garrison for her feedback.
Given that 23andMe was careful to present the patent as an unalloyed good in the pursuit of a cure for Parkinson's, it was - perhaps - surprised that the response from its customer base was not universally positive. A small but vocal group of customers was less than enthusiastic. 'I had assumed that 23andMe was against patenting genes and felt in total cahoots all along with you guys', one user wrote on the company's blog; adding: 'If I'd known you might go that route with my data, I'm not sure I would have answered any surveys' (1).
But if 23andMe was surprised - it shouldn't have been. There is a considerable history in the USA of protest when a person's genetic information is used to enrich or benefit someone else without their knowledge. In the US legal case of Greenberg v Miami Children's Hospital Research Institute the parents of children with Canavan disease sued the research institute after it used their children's tissue samples and patented the results. The understanding of the families had been that the research would remain in the public domain (2).
In the cases of Beleno v Texas Department of Health Services and Bearder v The State of Minnesota parents sued state health agencies for using newborn bloodspots collected for routine disease screening for a wide range of genetic research without their knowledge. After settlement, the state of Texas was forced to destroy thousands of blood spots and change its consent policy for prenatal screening (3).
Likewise, the Havasupai Tribe of northern Arizona sued Arizona State University when they found out that researchers had used genetic samples, initially collected from the small, isolated tribe for the purposes of diabetes research, in studies of topics ranging from schizophrenia to human migratory patterns. Not only did the retention of biological samples from deceased people violate deeply held cultural beliefs among the Havasupai, but they made it clear that they had given samples for the purpose of researching diabetes, which is highly prevalent in the Havasupai population and would have refused to give samples to other forms of research. The University eventually settled the case for a US$700,000 cash payment, among other concessions, and returned the samples (4).
The common thread among these and other cases is knowledge of what someone intends to do with your genetic information, especially if it entails profit. Many people genuinely want to contribute to the progress of medical research but the process of biomedical research is heavily predicated on trust. Trust that scientists and doctors are concerned with the public interest and that they are capable of dealing fairly with research participants who entrust to them their genetic information. Belated discoveries that expectations and reality do not mesh engender outrage, feelings of betrayal, and the possibility that participants will begin to avoid involvement in future research.
On the other hand, researchers are in a tough position too. Given the speed of scientific progress in genetics, it is virtually impossible to anticipate what kinds of research will be possible in the future or what previously unforeseen benefits might come of using genetic samples beyond the scope of the original consent? For example, some of the samples in existing databases are very old - do we destroy them, ignoring the extremely valuable information they might provide, because their donors don't know what we are doing with them? Even if we tell participants that we are going to use their samples for anything we can think of, can they really give truly informed consent amid such uncertainty (5)?
Furthermore, modern research institution researchers have a duty to turn potentially profitable discoveries over to their institutions to develop for the commercial market. Those revenues might, in turn, fund other important research. From 23andMe's perspective, patenting is most likely a necessary potential revenue stream to boost its research arm 23andWe.
Is there a solution to this stand-off? Perhaps, although some very smart people have yet to find it. It seems clear, however, that at least part of it has to do with disclosure. As 23andMe points out, its online consent form tells customers: 'If 23andMe develops intellectual property and/or commercialises products or services, directly or indirectly... you will not receive any compensation' (6). But it does not mention the word 'patent', nor state how it intends to defend its intellectual property rights against researchers or pharmaceutical companies. As customer reaction to its patent announcement seems to indicate, more attention needs to be devoted to ensuring that customers of commercial genetics companies (of any kind) are fully aware if the company intends to retain and conduct research on customer samples and potentially profit from the results.
This is essential not just from a legal perspective - existing consent forms will probably protect companies from legal liability - but from an ethical and practical perspective. Voluntary research participation is the cornerstone of modern bioethics and it goes to the core of what we value of individual self-determination and respect. It is not enough to say that what participants don't know won't hurt them - it is unlikely that any direct benefit or harm will ever attain to a tissue donor based on the genetic research conducted on their samples. But from an ethical perspective, it is possible to violate someone's autonomy even if they don't know you're doing it.
There are practical issues to consider as well - biomedical companies who fail to ensure honest and open communication with their customers about their true intentions in using genetic information, may find it increasingly difficult to build up the kind of large biobanks they need to do genuinely useful research.
Whatever one thinks about the ethics of gene patenting, the ethics of respecting the individual rights and autonomy of those on whom the future of biomedical research depends are pretty clear. If one plans to conduct research on humans then one must follow the principles of ethical research conduct.
Author's acknowledgment: Special thanks to Dr Nanibaa’ Garrison for her feedback.
SOURCES & REFERENCES
| The Spittoon | 28 May 2012 |
2) Greenberg v. Miami Children's Hospital Research Institute; Wests Fed Suppl. 2003;264:1064-78 |
| United States District Court, S.D. Florida, Miami Division. | |
| Houston Chronicle | 22 December 2009 |
| The New York Times | 21 April 2010 |
| Nature 486 (2012): 312. | 20 June 2012 |
| 23andMe | |
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