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FURTHER INFORMATION Neisseria gonorrhoea |
HIV-1 gp120 | foot-and-mouth disease virus |
US Centers for Disease Control and
Prevention | World Health Organization
influenza surveillance programme | Influenza
Sequence Database at Los Alamos National
Laboratory | X-ray crystallography primer |
Rosaceae | American Society for Microbiology
— TIGR 2001 conference | Staphylococcus
aureus genome | Intercell | The Institute for
Genomic Research | Molecular Evolutionary
Genetics Analysis | Phylogenetic Analysis by
Maximum Likelihood | Robin Bush’s lab |
Walter Fitch’s lab
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Acknowledgements
I thank N. Cox, C. Bender Smith and W. Fitch for their contributions to our collaborative work on influenza. I am supported by a
grant from the US National Institutes of Health and by funds provided by the University of California for the conduct of discretionary research by Los Alamos National Laboratory, conducted
under the auspices of the US Department of Energy.
OPINION
Protecting genetic privacy
Patricia A. Roche and George J. Annas
This article outlines the arguments for
and against new rules to protect
genetic privacy. We explain why genetic
information is different to other sensitive
medical information, why researchers
and biotechnology companies have
opposed new rules to protect genetic
privacy (and favour anti-discrimination
laws instead), and discuss what can be
done to protect privacy in relation to
genetic-sequence information and to
DNA samples themselves.
The simultaneous publication of two versions
of the human genome could be an important
impetus to take more seriously the legal, ethical and social policy issues at stake in human
genome research1,2. There are many such
issues, and the one that has caused the most
public concern is that of genetic privacy. As
DNA sequences become understood as information, and as this information becomes easi-
| MAY 2001 | VOLUME 2
er to use in digitized form, public concerns
about internet and e-commerce privacy
(regarding the security with which an individual’s private details are protected) will merge
with concerns about medical record privacy
and genetic privacy. In this paper, we outline
the key public policy issues at stake in the
genetic privacy debate by reviewing generally
medical privacy, by asking whether genetic
information is like other medical information,
and by outlining the current controversies
over privacy in genetic research. We conclude
with some public policy recommendations.
Privacy
Privacy is a complex concept that involves several different but overlapping personal interests. It encompasses informational privacy
(having control over highly personal information about ourselves), relational privacy
(determining with whom we have personal,
intimate relationships), privacy in decision-
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© 2001 Macmillan Magazines Ltd
PERSPECTIVES
making (freedom from the surveillance and
influence of others when making personal
decisions), and the right to exclude others
from our personal things and places. In the
United States, no single law protects all of
these interests, and privacy law refers to the
aggregate of privacy protections found in constitutions, statutes, regulations and common
law3–9. Together, these laws reflect the value
that US citizens place on individual privacy,
sometimes referred to as “the right to be left
alone” and the right to be free from outside
intrusion, not as an end in itself, but as a
means of enhancing individual freedom in
various aspects of our lives. The centrality of
individual freedom in Western societies is evident in the United States in state laws that
establish a patient’s right to make informed
choices about treatment, that place an obligation on physicians to maintain patient confidentiality and that regulate the maintenance
of medical records.
Privacy laws in the United States are fragmented because of the many sources of law,
which includes the federal government and
all 50 states. Legislative enactments are also
often the result of negotiated agreements
among segments of a diverse and often
polarized society, rather than of a real consensus. This is perhaps most readily seen in
the rules that govern highly sensitive and personal data in the United States. Unlike the
approach of the European Data Protection
Directive, which establishes similar rights
and duties relative to different kinds of personal data (health and finance)10, the United
States has different rights and duties for personal information depending on the kind of
information involved. Even for medical
records, there are different rules that apply to
the different types of information that they
contain. For example, the United States has
laws that govern generally medical record
information 11, as well as separate laws that
govern specific types of medical information,
such as HIV status12, substance-abuse treatment information13 and mental health information14. New federal regulations apply the
same privacy rules to all medical information
except psychotherapy records9. Such exceptionalism has been criticized, and the primary
argument against specific laws that are
designed to protect genetic information is that
such ‘genetic exceptionalism’ would perpetuate the misconception that genetic information is uniquely private and sensitive15.
Genetic privacy
Is DNA-sequence information uniquely private or just like other sensitive information in
an individual’s medical record? If it is not
“DNA has also been
culturally endowed with a
power and significance
exceeding that of other
medical information …
genetic information can
radically change the way
people view themselves …
as well as the way that
others view them.”
unique, existing medical record confidentiality
laws should be sufficient to protect geneticsequence information, and no new laws
would be needed. Those who support genetic
exceptionalism (as we do) emphasize the distinguishing features of DNA-sequence information. The DNA molecule itself is a source
of medical information and, like a personal
medical record, it can be stored and accessed
without the need to return to the person from
whom the DNA was collected for permission.
But DNA-sequence information contains
information beyond an individual’s medical
history and current health status. DNA also
contains information about an individual’s
future health risks, and in this sense is analogous to a coded ‘future diary’16. As the code is
broken, DNA reveals information about an
individual’s probable risks of suffering from
specific conditions in the future. Our current
obsession with genetic-sequence information
means that it is likely to be taken more seriously than other information in a medical
record that could also predict future risks, like
high blood pressure or cholesterol levels.
Information about the presence of proteins
that specific genes might encode is also different from DNA-sequence information because
the presence of certain proteins might change
with time, and their levels, like cholesterol
readings, can only be determined by retesting
the patient personally. So, proteomics will not
require new privacy rules, but rather the
enforcement of existing privacy rules for medical records. DNA-sequence information
might also contain information about behavioural traits that are unrelated to health status,
although scepticism is called for in this area17.
Our use of the ‘future diary’ metaphor has
been criticized as potentially perpetuating a
mistaken view of genes as deterministic15. We
understand this criticism, and also reject the
idea that genes alone determine our future.
Nevertheless, we continue to believe the
NATURE REVIEWS | GENETICS
future diary metaphor best conveys the private nature of genetic information itself. Our
future medical status is not determined solely
by genetics, any more than our past diaries are
the only source for accurate information
about our past (or even necessarily reflect it).
DNA information, like a diary, however, is a
uniquely private part of ourselves.
An individual’s DNA can also reveal information about risks and traits that are shared
with genetic relatives, and has been used to
prove paternity and other relationships18. An
individual’s DNA has the paradoxical quality
of being unique to that individual yet shared
with others. Even if one believes that the
DNA-sequence information extracted from
an individual’s DNA is no more sensitive than
other medical information, this says nothing
about the need to protect the DNA molecule
itself. In this regard, we think it is useful to
view the DNA molecule as a medical record
in its own right. Having a DNA sample from
an individual is like having medical information about the individual stored on a computer disk, except in this case the information is
stored as blood or as other tissue samples.
Like the computer disk, the DNA sequence
can be ‘read’ by the application of technology.
So, regardless of the rules developed to control the use of genetic information when it is
recorded in traditional paper and electronic
medical records, separate rules are also needed to regulate the collection, analysis, storage
and release of DNA samples themselves. This
is because once a physician or researcher has a
DNA sample, there is no practical need for
further contact with the individual from
whom the DNA was obtained, and DNA tests
could be done on the stored sample (and thus
on the individual) in their absence. Some of
these tests might as yet be undeveloped but all
will produce new genetic information about
the individual.
DNA has also been culturally endowed
with a power and significance exceeding that
of other medical information19. Much of this
significance is undoubtedly misplaced, but
can be justified in so far as genetic information can radically change the way people view
themselves and family members, as well as
the way that others view them. The history of
genetic testing, particularly in relation to rare
monogenic diseases, such as Huntington disease, provides us with examples of this
impact. Studies of individuals who have
undergone testing in clinical settings show
the changes in self-perception caused by positive, as well as negative, test results20,21.
Individuals with a decreased risk of having a
genetic disease have reported difficulty in setting expectations for their personal and
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Box 1 | Enterprises that raise challenging issues
• deCODE Genetics plans to computerize the patient records of the national health service of
Iceland, and collect DNA samples from members of the population for genetic linkage analysis
and association studies on common diseases. Results will be cross-referenced with information
from publicly available genealogical information. Subscriptions to these databases are sold to
researchers and information is entered into them on the basis of presumed consent.
• The UK Population Biomedical Collection, a joint initiative of the Medical Research Council and
the Wellcome Trust, plans to focus on understanding the interactions between genes,
environment and lifestyles in cancer and cardiovascular conditions. Their goal is to collect
samples of up to 500,000 people and link these samples to an ongoing collection of the
individuals’ medical data. Investigators may be granted access to the results of genotyping, but
not to the DNA samples.
• Ardais Corporation, a start-up biotechnology company that intends to enter into agreements
with several major hospitals in the United States under which surgical patients will be asked for
tissue that is left over from operations. These samples will be linked to records that detail the
patient’s medical history and family information. Tissue libraries and data will be licensed to
researchers.
• Autogen Ltd, an Australian biotechnology firm that has secured exclusive rights to collect tissue
samples and health data from the population of Tonga. The firm hopes to identify new diseaserelated genes and to aid the development of new drugs to prevent or treat common diseases, such
as diabetes. It has pledged to abide by stringent ethical standards, to collect samples and data
from individuals who voluntarily participate and to make the health database available to the
Tongan people.
professional lives in a more open-ended
future. Adjustments seem to have been particularly difficult for those who have already
made reproductive decisions based on the
presumption that they were at high risk for
developing a disease20. Consequently, it is
good policy to provide genetic counselling
before and after testing. And in the interests
of protecting the privacy of children and
adolescents, some institutions have also
adopted a policy of refusing parental requests
to test children for late-onset diseases when
no medical intervention is available to prevent or alleviate the genetic condition22.
Perhaps the principal reason why neither
DNA-sequence information nor DNA samples themselves have been afforded special
privacy protection is the strongly held view of
many genetic researchers and biotechnology
companies that privacy protections would
interfere with their work. One court in the
United States has addressed whether constitutional rights to privacy are implicated by
genetic testing. In Norman-Bloodsaw v.
Lawrence Berkeley Laboratory, employees of a
research facility owned and operated by state
and federal agencies alleged that non-consensual genetic testing by their employers
violated their rights to privacy. Holding that
the right to privacy protects against the collection of information by illicit means, as
well as unauthorized disclosures to third parties, the court stated “One can think of few
subject areas more personal and more likely
to implicate privacy interests than that of
one’s health or genetic make-up”23.
394
DNA research and privacy
Now that the human genome has been
sequenced, attention is shifting to research on
genetic variation that is designed to locate
genes and gene sequences with disease-producing or disease-prevention properties24.
Some researchers have already taken steps to
form partnerships and create large DNA
banks that will furnish the material for this
research25,26.Others want to take advantage of
the large number of stored tissue samples that
already exist27. In the United States, for example, the DNA of about 20 million people is
collected and stored each year in tissue collections ranging from fewer than 200 to more
than 92 million samples28.Collections include
Guthrie cards, on which blood from newborns has been collected for phenylketonuria
screening since the 1960s, paraffin blocks
used by pathologists to store specimens,
blood-bank samples, forensic specimens and
the US military’s bank of samples for use in
identifying bodily remains28.
Several factors have contributed to the
proliferation of DNA banking: the relative
ease with which DNA can be collected, its
coincidental presence in bodily specimens
collected for other reasons and its immutability. Regardless of the original purposes for
storing specimens, however, as the ability to
extract information from DNA increases and
the focus of research shifts to genetic factors
that contribute to human diseases and behaviours, repositories that contain the DNA of
sizeable populations can be ‘gold mines’ of
genetic information. So, it is not surprising
| MAY 2001 | VOLUME 2
that there is considerable interest on the part
of biomedical researchers, companies that
market genomic data and the pharmaceutical
industry, to stake claims on these informational resources29 and to exploit them for their
own purposes.
Commercial enterprises, as well as academic researchers, have equally strong interests
in making it relatively easy to access DNA
samples that can be linked to medical records
for research purposes. Representatives of
these constituencies have been vocal in arguing that requirements for informed consent
and the right to withdraw data from ongoing
research projects (two aspects of genetic privacy) would greatly hamper their research
efforts30. When US federal rules apply to such
research — as is the case with federally funded projects and any projects related to obtaining approval from the US Food and Drug
Administration to market drugs or devices —
the local Institutional Review Board (IRB)
must approve the research protocol. These
boards should not waive basic federal research
requirements on informed consent (nor
exempt researchers from them) except when
the IRB determines that the research will be
conducted in such a way that the subjects cannot be personally identified31. If existing
research rules were consistently and diligently
applied perhaps we could confidently state
that the privacy of research subjects is adequately protected32. Today, however, such confidence would be misplaced32.
These privacy and consent issues are not
limited to the United States (BOX 1). The most
internationally discussed DNA-based project
has been deCODE Genetics in Iceland, a
commercial project that has been opposed by
the Iceland Medical Association, among others, for ‘ethical shortcuts’, such as ‘opt-out’
provisions that presume an individual’s consent (see below)33–35. The deCODE project,
which has been endorsed by two acts of the
Iceland parliament, involves the creation of
two new databases: the first containing the
medical records of all Iceland citizens, and
the second containing DNA samples from
them (a third database, of genealogical
records, already exists). deCODE intends to
use these three databases in various combinations to identify genetic variations that
could be of pharmaceutical interest. The
chief ethical issues raised by this project are:
first, the question of informed consent for
inclusion of personal medical information in
the database, which is at present included
under the concept of presumed consent —
this requires individuals to actively opt out of
the research if they do not want their information in the database; second, informed
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© 2001 Macmillan Magazines Ltd
PERSPECTIVES
Box 2 | Assessing genetic privacy
Laws or policies that purport to protect genetic privacy, at a minimum, should do the following:
• Recognize individual genetic rights, particularly:
• the right to determine if and when their identifiable DNA samples are collected, stored or
analysed;
• the right to determine who has access to their identifiable DNA samples;
• the right of access to their own genetic information;
• the right to determine who has access to their genetic information;
• the right to all information necessary for informed decision-making about the collection,
storage and analysis of their DNA samples and the disclosure of their private genetic
information.
• Limit parental rights to authorize the collection, storage, or analysis of a child’s identifiable
DNA sample so as to preserve the child’s future autonomy and genetic privacy.
• Prohibit unauthorized uses of individually identifiable DNA samples, except for some uses in
solving crimes, determining paternity or identifying bodily remains.
• Prohibit disclosures of genetic information without the individual’s explicit authorization.
• Strictly enforce laws and institutional policies.
• Provide accessible remedies for individuals whose rights are violated.
• Institute sufficient penalties to deter and punish violations.
consent for the inclusion of DNA in the
DNA databank in an identifiable manner
(whether encrypted or not, and no matter
which entity holds the encryption key); and
third, whether the right to withdraw from
the research (including the right to withdraw
both the DNA sample itself from the databank and all information generated about it)
can be effectively exercised. Other issues
include the security of the databases and
community benefit from the research project
itself35. Iceland is providing a type of ethical
laboratory that will help identify the key
issues involved in population-based genetic
research, and might help to highlight why
international privacy rules are desirable.
Although Icelanders themselves do not
seem overly concerned with the adequacy of
deCODE’s plans to protect their personal privacy, other countries have not been as disposed to giving away the autonomy and privacy of their citizens so readily. Both Estonia
and the United Kingdom, for example, have
announced that their population-based DNA
collections and research projects will contain
strong consent and privacy-protection provisions36,37. The privacy problems inherent in
large population-based projects could be
avoided altogether by stripping DNA samples
of their identifiers in a way that makes it
impossible to link personal medical information with DNA samples (at least by using
standard identifying methods). Of course,
most researchers want to retain identifiers to
do follow-up work or confirm diagnoses38.
Such identification retention, however, puts
individuals at risk of breach of confidentiality
and invasion of privacy, and these risks are
why both informed consent and strong privacy-protection protocols are ethically necessary for genetic research38. These considerations also apply to criminal DNA databases as
even convicted felons have privacy rights.
Risks of disclosure of personal genetic
information are so high that some prominent genetic researchers, including Francis
Collins and Craig Venter, have suggested
concentrating not on privacy rules, but
rather on anti-discrimination legislation
that is designed to protect individuals when
their genetic information is disclosed, and
when insurance companies, employers or
others want to use that information against
them39. We agree that anti-discrimination
legislation is desirable, but it does not substitute for privacy rules that can prevent the
genetic information from being generated in
the first place without the individual’s
informed authorization.
This point is well illustrated by a law
recently enacted in Massachusetts — a state
with a population more than 20 times larger
than the population of Iceland40 — that has
been mistakenly characterized in the US press
as ‘a sweeping set of genetic privacy protections’41. Under this new law, written informed
consent is a prerequisite to predictive (but not
diagnostic) genetic testing and to disclosing
the results of such tests by entities and practitioners that provide health care. The law also
limits the uses that insurers and employers
can make of genetic information. However, it
places no limitations on how researchers and
biotechnology companies that engage in projects requiring the use of identifiable samples
and identifiable genetic information conduct
NATURE REVIEWS | GENETICS
their activities. Apparently, those who drafted
the statute believed that they need not be concerned about protecting research subjects
because research with human subjects is regulated by the federal government, failing to recognize that many activities of genomic companies do not fall under the jurisdiction of the
federal regulations.
Policy recommendations
We have argued in the past that a principal
step to achieving genetic privacy would be the
passage of a comprehensive federal genetic
privacy law42,43. The primary purpose of such
a law is to give individuals control over their
identifiable DNA samples and the geneticsequence information extracted from them.
The model we suggest provides that individuals have a property interest in their own DNA
— and that this property interest gives them
control over it. Control could also, however,
be obtained by requiring explicit authorization for the collection and use of DNA,
including its research and commercial use. We
believe that in the absence of authorization no
one should know more about an individual’s
genetic make-up than that individual chooses to know themselves, and that an individual
should also know who else knows (or will
know) their private genetic information (see
BOX 2). Current US state laws at best offer
some economic protections and a patchwork
of genetic privacy protections. But existing
state laws have significant gaps and inconsistently regulate those who engage in DNA
banking and genetic research. Nevertheless,
existing privacy laws provide models and a
foundation that can be built on to protect
genetic privacy and empower individuals in
this genomic era. But until comprehensive
federal legislation is passed in the United
States, US citizens will have to rely on those
who create and maintain DNA banks to
design, implement and enforce self-imposed
rules to protect individuals.
One proposal to deal with privacy issues
and individual control over genetic information is to have DNA samples and medical
records collected by a ‘third-party broker’ of
genetic information who would then, with the
informed consent of the individual, make this
information available to researchers in a coded
form. A for-profit company, First Genetic
Trust, has been formed in the United States to
try out this model44. Individuals are solicited
through the internet to participate in the Trust
and all communication with those who participate, including consent to new studies, will
take place over the internet. The purpose of the
Trust is to assure individuals that no one would
be able to use their DNA, or their personal
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© 2001 Macmillan Magazines Ltd
PERSPECTIVES
medical information associated with it, without the individual’s authorization. Some might
criticize this approach as going too far in protecting participants, noting that consent is not
generally necessary for IRB-approved research
that does not involve identifiable data.
Regardless of the fact that First Genetic Trust
itself will not be engaged in research, as long as
data held by the Trust can be linked to individuals, we think authorization should be
required and that proposals such as this one
are a step in the right direction.
Whether arrangements such as these will
lead to significant public participation in
genetic research remains to be seen. Despite
the availability of tests for genes that predispose individuals to several diseases, including
Huntington disease and some forms of breast
and colon cancers, the number of people who
choose to undergo clinical genetic testing has
fallen far below the expectations of the companies that sell tests and of the physicians who
believe their patients would benefit from
them45. Why is the public, which is on the one
hand fascinated with each advance in mapping the genome, the identification of particular genes and the possible association of a
gene with particular human characteristics,
simultaneously reticent to undergo genetic
testing? Explanations that individuals give for
avoiding genetic tests include fear of discrimination, concern over the impact on family
members, lack of effective treatments and
preference for uncertainty about the
future46,47. Privacy protections have little, if
any, impact on attitudes towards the future.
Nevertheless, by regulating the creation,
maintenance and disclosure of information,
they can reduce privacy risks and provide
some reassurance to those who might not
otherwise participate in genetic research or
clinical testing.
Once individual interests in privacy and
in being treated fairly on the basis of genetic
information have been addressed, only property issues remain. Individuals can be
thought of as having a property right in their
DNA, including, among other things, the
right to restrict others from ‘trespassing’ on
their property without permission42. One US
state, Oregon, incorporated an individual’s
right of ownership of DNA into its laws in
1995 (REF. 48). Objections that this law would
inhibit research in that state echoed objections that researchers and industry have
made elsewhere to explicit and strict privacy
rules49,50. Acknowledging property interests
in DNA need not impede research any more
than respect for individual privacy would.
Conversely, individuals are free to grant
property rights in their DNA to researchers,
396
and are much more likely to do so if their
privacy can be guaranteed (as it can be if
identifiers are not retained).
DNA can rightly be seen as containing
uniquely personal, powerful and sensitive
information about individuals and their families. Some individuals want to know as much
of this information about themselves as possible, and might be willing to share this information with their families and others. Others
would rather remain ignorant about their
own genetic make-up, and thus their risks for
future illnesses, or at least to keep others ignorant of such information. We believe that
individual choices are best served by policies
that place primary control over an individual’s DNA and genetic information in the
hands of individuals. We also believe privacy
protections will prove as necessary for the
future of genetic research and clinical applications as they will be for the future of e-commerce. We believe that the sooner that reasonable genetic privacy protections are in place,
the better it will be for all of us.
Patricia A. Roche and George J. Annas are at the
Health Law Department, Boston University School
of Public Health, 715 Albany Street, Boston,
Massachusetts 02118, USA. Correspondence to
P.A.R. e-mail: [email protected]
Links
DATABASE LINKS Huntington disease |
phenylketonuria
FURTHER INFORMATION European Data
Protection Directive | US Food and Drug
Administration | deCODE Genetics | First
Genetic Trust | UK Population Biomedical
Collection | Medical Research Council |
the Wellcome Trust | Ardais Corporation |
Autogen Ltd
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Acknowledgements
The authors thank their colleague, Leonard H. Glantz, for his contribution to formulating the policy recommendations presented in
this article.
www.nature.com/reviews/genetics
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