Healthy Skepticism Library item: 5866

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Publication type: news

Roche P, Annas G.
Perspective : DNA Testing, Banking, and Genetic Privacy
New England Journal of Medicine 2006 Aug 10
http://content.nejm.org/cgi/content/full/355/6/545?query=TOC

Full text:

DNA Testing, Banking, and Genetic Privacy

http://content.nejm.org/cgi/content/full/355/6/545?query=TOC

Patricia A. Roche, J.D., and George J. Annas, J.D., M.P.H.

“Who am I?” has always been a fundamental philosophical question that
may require decades of reflection to answer. With the advent of DNA
analysis, there is a growing public impression that the answer may be
found in our genes. Various Internet sites offer descriptions of our
ancestral history on the basis of our DNA, as well as testing for
specific “disease genes” or general profiles that are used to recommend
lifestyle changes, such as foods to be eaten or avoided. Researchers
have even suggested that although the scientific evidence is speculative
and at best probabilistic, many people will want to have their DNA
analyzed for markers of predispositions toward certain behaviors,
including risk taking, overeating, aggression, and even criminality.1,2

As these opportunities to learn about our DNA expand and affect the way
we construct our personal identities, we should be alert to the risks as
well as the benefits of exploring our DNA and basing an understanding of
who we are on genetic testing. We should be wary of perceptions of
ourselves – whether our own or others’ – that are based on results of
tests that have not been validated or on misinterpretations of valid
tests. We should be at least as concerned that others may know more than
we do about our own genetic makeup. DNA analysis, in combination with
the Internet, creates an unregulated market in DNA and new opportunities
for invasions of genetic privacy.

Using the Internet for the marketing and purchasing of genetic tests
sidesteps the doctor–patient relationship and eliminates meaningful,
face-to-face genetic counseling. It also magnifies an older but
unresolved danger: whenever identifiable DNA samples are collected and
stored, there is a high risk that violations of genetic privacy will
follow. As the evolution of DNA banking for research demonstrates, DNA
donors shouldn’t assume that the privacy protections they take for
granted in medical care and clinical research apply. People give up more
than they realize when they hand over their DNA.

DNA collection and banking have already gone through two distinct
stages. Initially, the people most actively involved in DNA collection
(outside law enforcement and the U.S. military, both of which use DNA
for identification purposes only) were researchers seeking genetic
markers for a particular disease, who typically collected DNA samples
from families at risk for the disease of interest and stored those
samples. Consent forms typically contained a provision permitting the
researchers to retain and reanalyze DNA samples in related research
after the primary study was completed. In the next iteration, consent
documents included much broader statements in which subjects
acknowledged that their DNA samples would become the property of the
researchers (or institutions), who could control the samples for their
own benefit. The research subject was thereby transformed into a DNA donor.3

Recent years have seen the emergence of private companies, such as the
Ardais Corporation and DNA Sciences, that – either at hospitals or
through appeals over the Internet – collect and analyze samples and
personal information for the express purpose of selling them to
researchers. The National Institutes of Health also has plans to develop
a national repository similar to the U.K. Biobank, a new resource for
researchers that will eventually include information and blood samples
from 500,000 volunteers. With such developments, DNA banking is quickly
changing from an academic research activity to a governmental and
commercial enterprise conducted by DNA brokers. As a result, the
relationship between subjects and researchers is being severed, and
along with it the associated legal rights and obligations, including
obligations to reduce risks to subjects’ privacy and to maintain the
confidentiality of their information. The unresolved legal status of the
relationships among donors, brokers, and researchers raises troubling
questions about privacy and property rights.

Without adequate protections for genetic privacy, autonomy to discover
and use one’s own genetic information for one’s own purposes cannot be
realized. A fundamental concern is that the possession and storage of a
personally identifiable DNA sample give the possessor access to a wealth
of information about the person and his or her genetic relatives. This
includes information derivable from new DNA tests that were not
available, or even anticipated, when the sample was relinquished.
Consequently, as long as personally identifiable DNA samples are stored,
there is the possibility of unauthorized access to and use of genetic
information – an invasion of genetic privacy. To the extent that we see
ourselves and our future as influenced by our genes, such invasions can
disrupt our very sense of self.4

In response to this concern, a majority of states have begun to regulate
genetic testing and fair uses of genetic information. But these laws are
almost exclusively antidiscrimination statutes that target the behavior
of insurers, employers, or both after the DNA has been collected and
analyzed. Some states, such as New Jersey, include broader privacy
protections by prohibiting unconsented-to collection and testing of DNA
generally (although those statutes typically include broad exceptions
for law enforcement and medical research) and by defining requirements
for consent to testing. Only about half a dozen states, however, require
either explicit consent for sample storage or the destruction of samples
after the purpose for their collection has been achieved.

It is, of course, the DNA sample itself, which can usefully be viewed as
a coded probabilistic medical record, that makes genetic privacy unique
and differentiates it from the privacy of medical records.5 The absence
of any meaningful property or privacy protection of DNA samples means
that consumers must be extra cautious and seek specific information
about the fate of the samples before sending them off for testing.
Minimal information that they should obtain includes the site where the
sample will be analyzed, whether and how long it will be stored, and who
will have access to it and to any identifiable information linked to it.
The best consumer advice, given current law, is that one should not send
a DNA sample to anyone who does not guarantee to destroy it on
completion of the specified test.

Redefining ourselves and our futures in accordance with insights offered
by our DNA is hopelessly reductionistic, if inherently fascinating. We
will not learn who we are by having our DNA analyzed, but we will almost
certainly give others the opportunity to learn something about us. And
our DNA is not like our credit cards: we cannot simply get a new number.
As long as someone has our identifiable DNA sample, he or she will be
able to learn things about us we may not know, may not want to know, and
certainly don’t want others to know. DNA collection, banking, and
analysis are expanding rapidly, and we need a federal genetic privacy
law to protect people who want to know what secrets their DNA contains,
as well as those who don’t.

Source Information

Ms. Roche and Mr. Annas are professors in the Department of Health Law,
Bioethics, and Human Rights at Boston University School of Public
Health, Boston.

An interview with Prof. Annas can be heard at www.nejm.org.

References