23 and You? Genome research, direct-to-consumer genetics and informed consent

When 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.