[¶2] Yet with more than half of
Americans classified as overweight or obese - many
of whom face incentives or even pressures from employers or
insurance companies to improve their health and diet - it is no
longer just a fringe of health conscious Americans seeking high-tech
solutions. Many of those same people - both those who are already
facing health problems and those seeking to avoid them - are among
the majority of American consumers who prefer self-treatment options
to seeing a doctor. The "perfect gift for the genetic age" that genetic testing
purportedly offers thus captures a large and receptive audience,
particularly given its promises of "[s]elf knowledge [that]
leads to self empowerment and self improvement." Under the heading "Nutritional Genetics: Personalized Nutritional
and Lifestyle Recommendations from the Genetic Age," the benefits
one may expect are said to include:
Reduced cravings caused by
nutrients missing from your diet.
Optimize the health and
durability of your skin, hair and bones.
Harmonize your diet and
life-style with your genome by learning about genetically related
risk factors to the big three diseases-heart disease, cancer, and
diabetes, that your diet can influence.
Easier compliance with your
self-improvement program because personalized advice lets you know
that what you are doing is based on your unique needs and will be
effective.
[¶3] Most importantly, this nutrigenetic report promises "[a]dvice that
lasts a lifetime because your genes are not a fad." Although the lofty promises offered sound much like a dramatization
or hypothetical scenario, the quoted text comes from a website
currently offering nutrigenetic testing. What the website does not disclose are the myriad
problems-including legal problems-potentially posed by ordering
this information that will likely last a lifetime.
[¶4] The enthusiasm for nutrigenetics
may obfuscate the unusual problems surrounding protection of genetic
information particularly in a market context. The gravest concern
is one of control-upon providing genetic material for lifestyle
genetic testing, an individual has little command over who has
access to the results. And unregulated access can have devastating
effects. Even if the raw genetic information merely is sent back
directly to the individual, serious misinterpretation concerns arise
due to lack of counseling; in extreme cases, for example,
individuals have interpreted genetic information as a death sentence
leading to severe psychological trauma and even suicide. Perhaps
even more alarming is the release of the genetic test results or
genetic materials to third parties to whom the individual never
intended to impart the information or material. Release of genetic
information to unknown third parties may be a path fraught with
peril. The ramifications of such third-party release not only
raises considerable liberty concerns-from privacy and equal
protection to perhaps even property rights issues, but can also
result in significant damage that cannot be undone, such as stigma
and discrimination not only against the customer but all the blood
relatives who carry some of the same DNA.
[¶5] Current regulations and
safeguards inadequately address the significant legal problems posed
even by accurate genetic information, because they fail to
sufficiently consider who may obtain the information, including the
bearers of the genetic information themselves. To better protect
genetic information, courts should recognize an individual's right
to control personal genetic information, and Congress should expand
existing and proposed legislation to protect information obtained
through nutrigenetic and other lifestyle genetic testing. Such
legislation should incorporate nutrigenetic and other nonpathologic testing within its scope and mandate safeguards preventing the
numerous legal problems raised, but also allow relevant information
to be obtained by individuals and individually authorized third
parties. A double-masking system, which separates the raw genetic
data from derived information before passing it on to consumers, can
achieve this by supporting individuals' rights to control access
to genetic information while also protecting individuals from
unwanted, potentially harmful information.
[¶6] This Article starts by surveying
the current environment of genetic testing. Following a brief
description of nutrigenetics, Part I provides a broad picture of the
conditions bolstering the imminent rise of nutrigenetics, and then
focuses on the current environment of genetic testing. These macro-
and micro-snapshots contrast the various benefits and dangers of
nutrigenetics in a currently inadequate regulatory and statutory
regime. Part II explains why nutrigenetic testing poses even
greater risks than traditional pathologic genetic testing, focusing
on the difference in both the scope of testing and the change of
setting in which nutrigenetics takes place-a marketplace rather
than a doctor's office. Part III briefly overviews traditional
problems posed by the disclosure of inaccurate information and
highlights unique problems associated with the disclosure of
accurate genetic information. Part IV considers the key issue of
who should (or should not) have access to and control over genetic
information. This analysis focuses primarily on the legal (and to a
lesser extent medical) problems of providing genetic information to
individuals and other interested parties, as well as the legal
problems of not allowing them access.
[¶7] Against this backdrop, Part V
examines and illuminates the deficiencies of previous proposals,
legislative and regulatory efforts to protect genetic information,
and pending congressional legislation. Juxtaposed against these
shortcomings, Part VI describes the benefits of a double-masking
model, emphasizing the need to separate the information derived from
genetic information from the genetic information itself. Finally,
this Part sets forth statutory provisions that Congress should pass
to protect genetic information.
[¶8] The last two decades gave rise
to exponential increases in the number of obese and overweight
individuals around the world, and particularly in the United
States. Indeed, the obesity epidemic is expected to result in more than
fifty percent of the U.S. population being classified as obese by
2020. In addition to individual health consequences, the individual and
aggregate economic effects are already significant. Medical costs,
for example, continue to rise in the face of expensive treatments
that ameliorate, but do not cure, obesity-related diseases. As the costs are only expected to rise, government spending
projections forecast an enormous proportion devoted to health care.
[¶9] Against this background,
nutrigenetics provides a beacon of hope. The ultimate goal of
nutrigenetics is to provide personally tailored dietary and
lifestyle recommendations based on an individual's genetic makeup.
This holds tremendous promise for individuals seeking to improve
the quality of their lives, and offers a remedy to employers,
insurers, and governments facing the tremendous negative economic
effects of the obesity epidemic and soaring health care costs. At the same time, commercial entities are eager to exploit the
nutrigenetics market. What makes nutrigenetics particularly attractive to businesses is
the apparent lack of built-in market limitations. Before delving further into what distinguishes nutrigenetics from
other types of genetic testing, however, it is important broadly to
understand genetic testing.
[¶10] Genetic testing involves
examining deoxyribonucleic acid (DNA) from an individual's blood,
tissues, or bodily fluids for variations in the individual's
genes. Although scientists initially believed that one gene regulated one
particular function (or dysfunction) scientific advances have shed
light on this oversimplification. Scientific understanding has evolved to recognize that one gene can
code for multiple proteins, and multiple genes can affect coding of
a single protein. In other words, single genetic variances may
affect more than one condition, and for many conditions, more than
one gene plays a role. For years, genetic testing has involved diagnostic, screening, and
predictive tests looking for disease. Nonpathologic testing, however, is now becoming increasingly
available, and expectations of future demand for such nonpathologic
tests are high. Nutrigenetic testing is an emerging area of nonpathologic genetic
testing that looks at the influence of interactions between diet and
genotypes on health and disease.
[¶11] Pathologic and nonpathologic
testing hold opportunities for improving quality of life, and for
providing economic benefits both to individuals and society at
large. These tests also pose numerous legal and other dangers that
are inadequately addressed by the current regulatory and statutory
regime. A passing familiarity with the state of the genetic testing
industry illuminates these dangers.
[¶12] The market for genetic testing
is increasing at a rate of thirty percent annually. At the same time, the number of genes being tested is increasing
exponentially. Though the tests are evolving and the market expanding, the form of
transmitted information generally remains the same. Clients are
provided either the raw genetic information-the particular
genetic variants accompanied with a brief global summary explaining
what the genetic information means, or the derived genetic
information, which consists of only the meaning of genetic
information, and not the specific genetic variants. Derived
information provides only the specific information the person
sought, whereas raw genetic information reveals the genetic
variation, which is interpreted to extract the information sought.
For example, if a person requests a genetic test to find out whether
her bone health might be compromised, the derived genetic
information would simply indicate an increased need for vitamin D.
The raw genetic information, by contrast, would be that she carries
the taq1 variation of the VDR gene, which implies not only the
higher vitamin D requirement but also possibly an increased risk of
osteoporosis, cancer and other dire health conditions. Current
practice is to provide the individual with such raw genetic
information. The distinction between raw and derived genetic information is
critical because the significant problems resulting from
disclosure-particularly of nutrigenetic test information-primarily
arise in the context of raw genetic information, and would be
significantly mitigated by disclosing only derived genetic
information.
[¶13] The scope and context of
nutrigenetics heightens the risk of information disclosure. First,
nutrigenetic testing evaluates a much greater range of variations
than traditional pathologic testing. In the context of diseases,
genetic testing is generally narrow because patients go to their
healthcare provider with a very specific inquiry. In the narrowest
cases, for example, patients may want to know whether they have the
specific genetic variant for Huntington's disease or inherited
forms of BRCA, the breast cancer gene. In broader cases, a patient
may seek genetic testing to explain multiple miscarriages, in which
case the healthcare provider may order a menu of tests to examine
the various different genetic variations related to fertility or
pregnancy problems. Even in the latter case, however, the number of
specific variations examined is still quite small.
[¶14] Nutrigenetics is considerably
different. Nutrigenetic tests do not seek any single or handful of
genetic variants; instead, these tests look for a large number of
different variations that appear to interact with diet and
lifestyle. Thus, the test itself is exponentially broader. Testing
for more variations is also becoming cheaper, particularly as the
capacity to do so increases exponentially. Accordingly, testing
companies already have incentives to create broad, multipurpose
tests that analyze thousands of genetic variations. The testing
companies would then filter out the information relevant to the
particular test and pass it on to the individual. This is easier than creating a different test depending on the
individual profile, or even creating different tests for subgroups
based on age and sex, where entirely different genetic variations
are relevant. The enormously larger dimensions of these tests therefore mean that
there is much more genetic information at play in the context of
nutrigenetic testing.
[¶15] Second, nutrigenetics changes
the context of genetic testing dramatically. Pathologic genetic
testing looking for Alzheimer's disease, breast cancer, or
prenatal diagnostics for Down Syndrome are firmly grounded in the
medical context, which provides a structured framework. Prior to
testing, patients go to their doctor's office or to a genetic
counselor, where the trained practitioner advises them of the risks,
implications, and meaning of tests. The health professional can
also highlight limitations of the tests and explain why the patient
may not want to undergo the test. If the patient chooses to
proceed, the professional obtains consent and sends the patient's
specimen to federally certified laboratories. The doctor then
receives a test report with the genetic variations and often a
global interpretation (essentially a short summary saying that these
results point to a specific probability of the tested disease or
condition, for example). The patient returns for an intensive,
detail-oriented session, where the professional explains the
findings of the tests and the risks of proceeding based on this
information. If patients insist, they will be given a copy of the
report with the raw genetic information and the global evaluation.
[¶16] Nutrigenetics radically shifts
the context from a supportive healthcare environment to the
commercial marketplace, thereby turning the patient into a consumer acquiring the
information from profit-driven direct-to-consumer services. The likelihood of information being inaccurate may increase
substantially in the commercial context, as it is unclear whether
many of the regulations currently covering genetic testing even
apply in this situation. Motivated by the prospect of profit, the incentive for these
commercial entities to offer questionable or unproven tests is
high. In fact, the Government Accountability Office (GAO) has already
exposed numerous websites offering nutrigenetic testing as scams
based on the inaccurate information they provided.
[¶17] This contextual change further
amplifies the dangers present even when results are accurate.
People already treat nutritional and lifestyle decisions more
casually than more concrete medical decisions, such as testing for
genetic diseases or prenatal testing. Recommendations concerning
how much coffee to drink are not considered life altering to the
same extent as finding out whether one has the genetic variation for
Huntington's disease, or whether one's fetus has Down Syndrome.
The marketplace setting further diminishes the weightiness of the
decision. You just swab a cotton stick in your mouth, put it in an
envelope, and wait to hear whether you should stay away from
coffee. There is no pre-test counseling to explain the implications and
limitations of the test, or personalized explanation of why you may
not want to have the testing done. On the contrary; the commercial
testing services have incentive to hype their test to persuade the
consumer to buy it.
[¶18] After convincing the consumer to
order the test, and analyzing the genetic material received, the
testing service sends the test results directly to the consumer. As
one nutrigenetic service explains: "Once your diet, lifestyle and
genes have been analyzed, we'll send you a confidential
personalized Action Plan telling you how to match your diet and
lifestyle to your genes." This report includes a "health profile" providing the raw
genetic information. A sample table provided by one website lists the genes analyzed,
their role in a particular health function, the particular genetic
variation screened for, whether the variation was found in this
particular individual's gene, the percentage of the population
that has the genetic variation, and then answers yes or no to
whether the result suggests an impact on bone health.
[¶19] Thus, the individual receives a
lengthy report listing many genetic variations. Although the
genetic variations may only be linked to certain health issues at
present, media reports describe almost daily advances indicating new
correlations between genetic variants and innumerable conditions.
An individual, hearing about such a new finding, could easily check
whether the nutrigenetic report they have received lists a variant
mentioned in the media report.
[¶20] Based on the ostensibly
innocuous nature of the information sought, in combination with the
ease with which such information may be obtained, individuals are
more likely to seek direct genetic testing for nutrigenetic purposes
than for pharmacogenomic or pathologic genetic testing. In this context, then, the heightened need to control access to
this information becomes plain.
[¶21] When information is a commercial
product, concerns that the information may be inaccurate naturally
arise, and governmental regulations generally focus on this concern.
The ultimate goal of regulators is to make sure that information is
accurate – that there is no fraud, misrepresentation, or product
defect. Genetic testing, including nutrigenetic testing, is no
exception. What differentiates it from other testing, however, are
the significant problems posed by accurate genetic
information.
[¶22] Even if regulators could ensure
that information generated by genetic tests is accurate, concerns
arise that are perhaps even greater than those relating to
inaccurate information. Thus, different protections are needed than
those sufficing for other types of products. To more sharply
highlight the distinctive problems arising in the context of genetic
(including nutrigenetic) testing, this part therefore separates the
issues into (1) typical problems of inaccurate information and (2)
the unique problem of accurate information.
[¶23] A defective product is one that
cannot be used for the purposes intended, or is made dangerous as a
result of a flaw or imperfection. Information inaccuracy in the
context of genetic testing is a type of product defect, where the
inaccuracy itself is the problem. Inaccuracy couched in false
promises of accuracy defrauds consumers. Furthermore, inaccurate genetic information raises serious safety
concerns. It may lead to misdiagnoses and inappropriate recommendations with
considerable health implications. As one recent report explained, "an inaccurate test result can
lead to ill-informed decisions with tragic consequences, and to
wasted healthcare resources." At this nascent stage, the primary concerns regarding nutrigenetics
are that the genetic tests provide evaluations and recommendations
that are so vague as to be virtually worthless.
[¶24] Genetic information inaccuracies
arise for various reasons, including poor quality control of the
tests themselves, inadequate scientific evidence supporting the
tests, and outright scams. Numerous safeguards work to mitigate these problems in the context
of pathologic genetic testing. Those tests are generally performed
in a doctor's office, allowing the physicians to serve as one
layer of protection. Because usually just one (or very few) genetic
variants are assessed, the health professionals administering the
tests are generally more knowledgeable as to the level of confidence
one should have in these findings. The laboratories doing this type
of testing are subject to federal regulations, which afford assurances of analytical validity for the limited
number of analyzed markers, thereby offering a certain degree of
protection to ensure that tests are reliable. Moreover, the
discussion spurred by the Human Genome Project about genetic information concerns focused attention and academic
discussion on pathologic genetic testing, thereby providing another
layer of protection.
[¶25] Nutrigenetics differs
significantly because of its commercial context and the more casual
atmosphere in which information transfer occurs. This may convey
the false impression that nutrigenetic testing is a relatively
trivial undertaking. Additionally, the number of genetic variants
assessed increases dramatically compared to traditional pathologic
testing, as the exponentially larger volume strains already tight
oversight resources and requires experts to become proficient in not
just a hundred or so genetic variants, but hundreds of thousands.
At the same time, online testing of any sort largely removes the
safeguard previously provided by the interaction with a healthcare
professional.
[¶26] Unlike the situation concerning
inaccuracy, accurate information itself is not the problem. Rather,
accurate information is hazardous in that it gives rise to other
problems, specifically those of misinterpretation,
self-overdisclosure, and harmful third party disclosure.
[¶27] Misinterpretation includes both
misperceptions and misunderstandings of what the data means, even if
the data are accurate. Genetic determinism, the idea that what is
written in your genes is an inevitable and inescapable fate, is one
of the most deleterious forms of misunderstandings. Genetic determinism can, on one hand, give people the incorrect
idea that because they do not have a particular gene, they have
carte blanche and need not make conscientious lifestyle choices. On
the other hand, genetic determinism may lead people with a
particular genetic variant to see disease manifestation as
inevitable, even though it may never occur. Unfortunately, the
reports about genetics in the media and in popular culture have
strongly reinforced this fallacious notion of genetic determinism. Lack of adequate counseling by a licensed health professional
further heightens the danger of individuals being misled, or
misinterpreting what test results mean. Yet the direct-to-consumer
nutrigenetic testing often does not ensure such counseling.
[¶28] Further problems manifest when
an individual receives more information than they bargained for or
wanted. Individuals receiving unwanted or potentially harmful
excess information can be termed "self-overdisclosure." In the
context of genetics, self-overdisclosure is significant because the
information can gain additional meaning as scientific developments
progress. Additional meaning denotes not only greater understanding
of the connection between a genetic variant and the tested-for
condition, but even more importantly, new correlations between the
same genetic variant and other, unrelated conditions-including
pathologic conditions. For example, in the early 1980s, researchers
testing for APO-E (thought to correlate innocuously to blood
cholesterol levels) disclosed to the patients the rare gene they
possessed. Shortly thereafter, it was found that APOE is also a
predictor for Alzheimer's disease.
[¶29] Finally, even if an individual
properly understands the genetic test results or gets only the
bargained-for results, unauthorized or unanticipated third party
disclosure still poses problems. Particularly in the context of nutrigenetic testing, even third
party disclosure that is not illicit can have detrimental effects
further down the line. Discrimination against the individual-for
example, by employers, insurance companies, or family members-is
one of the greatest concerns. Although the same troubles arise in the context of inaccurate
information, the point is that these problems persist even if
inaccuracy is eliminated. In fact, a higher degree of confidence
that the information is accurate may actually exacerbate the
prevalence of genetic discrimination, as well as the problems
associated with misinterpretation.
[¶30] The difference between accurate
and inaccurate information is not merely semantic; recognizing the
difference between accurate and inaccurate information is critical
to legislative and judicial efforts to protect individuals'
autonomy and genetic privacy because the legislative and regulatory
responses differ based on the type of information involved. As
shall be illustrated, the current legal protections for genetic
information are incoherent, at least in part because of the
different approaches to accurate versus inaccurate information.
[¶31] Inaccurate information problems
are the traditional purview of regulatory agencies, such as the
Federal Trade Commission (FTC) and the Food & Drug
Administration (FDA). For inaccurate information, the problem exists instantly-something
went wrong before the consumer even received the information; the
product itself was defective. Although still insufficient,
approaches to inaccurate information take the form of statutory
requirements and practical efforts by federal agencies focused on
addressing these instantaneous inaccurate information problems.
[¶32] Approaches to preventing
accurate information problems, including misinterpretation, third
party disclosure, and self-overdisclosure, are less concrete both in
terms of their enforceability and applicability. Ethical guidelines
of medical associations, which are not legally binding and not
applicable to commercial services, comprise much of the extant protections. One explanation for the
lack of concrete regulation and legislation is that the problems of
accurate information disclosure are themselves significantly more
remote and abstract than inaccurate information problems. Even if
genetic information gets out to third parties, the effects may not
be immediately apparent or even immediately harmful-the harm may
not actually occur until some remote point in the future, for
example, when the information is the basis for discrimination.
[¶33] Furthermore, unlike the concrete
product defect that inaccurate information represents, the precise
violation regarding accurate information is more nebulous. For
example, although it would appear that unwarranted disclosure of
accurate genetic information implicates loss of privacy, continuing
debates over whether genetic information implicates privacy or
property rights creating uncertainty as to both what harms may be claimed and what
constitutes an appropriate remedy. Moreover, accurate information problems are not as readily apparent
or easily identifiable. Some legislators failing to see the
problems posed by accurate genetic information actually deride
proposed anti-genetic discrimination legislation as "a solution in
search of a problem."
[¶34] Given the problems generated by
both accurate and inaccurate information, genetic information
requires special protections. The best form of protection is to
secure individuals' rights to control their personal genetic
information without forcing exposure to unwanted, potentially
harmful information, or allowing exposure to raw genetic or
pathological information without appropriate counseling. Yet
various other players also want to control, or at least access, the
information, and allowing or prohibiting disclosure to those parties
presents an array of legal issues.
[¶35] Both accurate and inaccurate
nutrigenetic information pose serious potential hazards given the
lack of effective regulation to prevent inaccuracies, and the even
greater lack of legislation dealing with disclosure of accurate
genetic information. The key to dealing with these problems
revolves around access to information from nutrigenetic tests. Aside from the individual seeking the test, other parties also want
this information. This section examines these stakeholders and
their reasons for wanting the information, as well as the effects
and legal issues involved in providing or proscribing that access.
Regardless of the interested party examined, the dominant theme is
the individual's loss of control.
[¶36] An individual may seek nutrigenetic testing for numerous reasons: to
improve quality of life, to reduce health care costs, or just to
follow the latest trend. Whatever the reason, "[i]t
is axiomatic that a person who has been tested for one or more
genetic conditions has a significant interest in knowing and
determining what happens to the resulting information." As a Ninth Circuit judge recently put it, DNA does far more than
merely identify a person: "DNA stores and reveals
massive amounts of personal, private data about that individual, and
the advance of science promises to make stored DNA only more
revealing in time."
[¶37] Yet unrestricted access to nutrigenetic information, even to the
individuals themselves, raises previously mentioned problems of
misunderstanding and harmful disclosure. Particularly in light of
the lack of pre- and post-test counseling in the context of
nutrigenetics, misinterpretation is a strong possibility. When unwanted information emerges from these reports, it may
reinforce deterministic views. In addition, "[r]eleasing
test results to lay consumers, who are not educated in such matters
as genetic testing or qualified to understand the information
contained therein poses inherent psychological dangers." Of course, not all genetic information is dangerous – much
genetic information is itself harmless, and not the type that would
be used for discrimination (such as eye color or lactose
intolerance). The problem is that with the large number of genetic
variants being tested and discovery of new correlations of a
particular genetic variant, one cannot know whether the information
received will remain innocuous or will be imputed meaning making it
dangerous.
[¶38] In some cases, this may lead to
serious identity issues, or even suicide. Even if consumers grapple with the implications of the information,
they may be placed
in the difficult position of either having to lie or having to face
potential discrimination from employers and insurers asking for any
genetic testing results received by the individual. There may also be
concerns about the implications for family members, particularly
those who share the same DNA. Family members may have an interest
in the genetic information for their own personal health. Yet, for
some, "the
prospect of knowing genetic information elicits feelings of anxiety
and can even cause family ties to become strained when family
members do not want to know the information." Use
of one family member's DNA has been employed to identify, through
forensic databanks, a relative who committed a crime, and to deny insurance.
[¶39] As
a result of these fears, many individuals have forgone testing even
though it could lengthen and improve their quality of life. Even those individuals wanting to improve their lifestyle with
genetically-tailored recommendations have important reasons to want
not
to know anything beyond the specific information requested.
[¶40] Given
these critical concerns, the safest option may be to prohibit
individuals from obtaining nutrigenetic tests, or perhaps to allow
only a licensed professional to decide whether the person adequately
understands the implications before a test may be ordered. Yet such
paternalism seems diametrically opposed to the individual liberty
valued by American society, and implicates autonomy and
self-determination issues. Preventing individuals from obtaining nutrigenetic information also
has various legal implications. Restrictions on obtaining one's
genetic information may arguably amount to unconstitutional
infringement of substantive due process rights. In fact, the Ninth Circuit asserted that "[o]ne
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." Such restrictions on obtaining personal genetic information may
also implicate property rights. Four states have statutes saying
that genetic information is personal property. As a result,
impeding access to that information may potentially constitute a
taking.
[¶41] In
sum, nutrigenetic testing involves balancing the desire to encourage
individuals to obtain health benefits from their genetic information
while protecting them from unwanted overexposure and unnecessary
disclosure to third parties. Given that genetic information
"relates
to them and can affect their lives in profound ways,"
individuals have "a
very strong claim to control the circumstances in which this
information is generated and to determine what happens to the
information subsequently."
[¶42] Companies that provide
commercial nutrigenetic testing services have an obvious interest in
obtaining genetic information-the nutrigenetic information is the
product they sell to consumers. Yet their interest does not end
upon completing the testing and sending back the results. Companies
providing genetic testing also have a strong interest in retaining
the genetic information and any personal information of the
individual who supplied the sample. By storing this information in
databases, a company can continue developing new services by
exploiting the larger sample sizes to find new correlations relevant
to nutritional recommendations. Thus, companies simultaneously make
money from the services provided and obtain samples to improve the
services they offer.
[¶43] Allowing commercial test
providers access to raw genetic information gives rise to several
concerns. Once the individual sends off her genetic sample, she has little
control over who else will have access to it. Much like an email,
the initial recipient may forward the information to others. Some
internet genetic testing services, for example, apparently sell the
genetic information they obtain to research institutions. These services may also store the DNA or the test information to
create genetic databases themselves. The key here is loss of
control and the resulting harm to individuals.
[¶44] Companies engage in these
practices without the knowledge of the individual, thereby
implicating informed consent issues. In the medical context, courts
hold that doctors have a duty to disclose their financial interests,
but this is based on the idea that a doctor has a fiduciary duty to
a patient. A court may have more trouble finding such a duty in an arms-length
commercial transaction. Moreover, the private sector, which is
focused solely on its own financial gain, is more likely to "misuse
this sensitive information in times of economic crises, such as
selling it in the event of bankruptcy."
[¶45] In many instances, consumers of
genetic testing products are not informed that their information was
passed on or sold to third parties, or used for purposes other than
to provide the product ordered. Even in instances where the
commercial service provides a disclaimer, whether the consumer
actually understood the implications of that consent is unclear. Unintended use issues are particularly alarming given not only the
large number of genetic variants being tested, but the permanence of genetic test results and the effect on others,
such as family members who share the same DNA. The genetic testing
website quoted earlier portrayed nutrigenetic information as
"last[ing] a lifetime," but actually the unique longevity of DNA "creates the possibility
of long-term and even transgenerational harms for persons." Genetic information continually gains meaning, as more and more
associations between genes and various conditions are discovered.
Yet even though exponential growth in genetic knowledge may reveal
information individuals do not want themselves-much less revealed
to others-to know, it is not easy to withdraw that information.
[¶46] Proscribing these commercial
entities from obtaining genetic material and offering their services
raises a different set of problems. Restricting the marketing of
these tests, for example, implicates First Amendment rights. Because the Supreme Court extended First Amendment protections to
commercial speech, marketing restrictions may infringe that First
Amendment protection. Another difficulty is that limiting market players potentially
hampers general access to the tests. The problem becomes even greater when considering researchers, who
are not purely profit driven, but also seeking to make scientific
advances.
[¶47] Researchers and biobanks
constitute another category of interested players. Studies of large
cohorts linking genetic information to details about dietary habits
and lifestyle factors are "key to unlocking the details of how
genetics and environmental exposures, including nutrition,
interact." Though public good may motivate much of these efforts, the
information is again used for purposes never intended by the
individual ordering a nutrigenetic test. Moreover, individuals may find it incredibly challenging to
withhold or withdraw consent for future use. Once researchers have
the information, preventing them from using it can be very
difficult. Again, the main problem is loss of control.
[¶48] Societal benefits of allowing
researchers and biobanks access to genetic information may be lost
if this access were proscribed. Researchers argue that genetic
information, coupled with the personal information provided, is
needed for meaningful results. Yet the ability of researchers to
access personal information about specific individuals suggests much
greater threats to individual autonomy. The resulting implication is that this creates a conflict of
interests between the need for research and the right to individual
autonomy. This view, however, overlooks important aligned interests-the
researcher actually benefits by protecting individual genetic
autonomy. Concern about lack of control not only harms patients who
forego potentially beneficial testing, but also hurts research. Currently, many researchers face significant problems in recruiting
study participants, as people are unwilling to participate in
studies for fear that such participation may lead to third party
disclosure, resulting in discrimination and other negative effects.
Protecting individuals' autonomy over access to their genetic
information therefore can be mutually beneficial: alleviating
patients' concerns by eliminating the main reason they currently
refuse to participate in genetic research conducted by academic or
commercial researchers.
[¶49] Health professionals use genetic information to gain a fuller understanding
of their patients. Issues concerning the individual's loss of control, similar to
those arising in the context of research institutions, surface when
the physician uses the information for research without patient
approval. A separate issue, however, appears when a doctor is compelled to
disclose the information to third parties. Medical information on
file with a doctor must often be disclosed to insurers, for example.
When the employer is also the insurance provider, there are further
concerns that information will be disclosed to the employer.
[¶50] There is precedent to suggest that physicians in some circumstances may be obligated to reveal the
information to family members. In not doing so, physicians may face liability for failing to meet
their duty to warn. In Safer v. Estate of Pack, for example, the New Jersey appellate court recognized "a
physician's duty to warn those known to be at risk of avoidable
harm from a genetically transmissible condition." The court
explained that "[i]n
terms of foreseeability especially, there is no essential difference
between the type of genetic threat at issue here and the menace of
infection, contagion or a threat of physical harm." In a case of first impression, the Supreme Court of Minnesota
recently followed the lead of the Safer
court by accepting the plaintiff's argument that a physician's
duty to warn others of a patient's genetic disorder arises from
the foreseeability of injury, even if a physician-patient
relationship cannot be established.
[¶51] While the courts grapple with these issues, problems of not allowing
physicians access to genetic information become evident. First, if
physicians do not have access to genetic information, important
protections may be lost for the patient. Health professionals
provide an important safeguard function in interpreting and
protecting the data, and explaining the actual ramifications.
Second, physicians may be liable to the patient if they do not
consult genetic information, for example, before prescribing
medications. In fact, some recent articles have suggested the increasing
likelihood of doctor liability for failing to test for genetic
variations may be an impetus for increasing the progress of
pharmacogenetics, for example.
[¶52] While many of these problems
remained dormant in the context of pathologic genetic testing,
nutrigenetic testing has changed everything-pushing privacy issues
from the relative safety of the doctor's office to the market
place, and moving to an exponentially larger magnitude of testing
that brings with it exponentially greater room for
misinterpretation, discrimination through release to third parties,
and self-overdisclosure. Regulations, on the other hand, thus far
remain unchanged.
[¶53] Inaccurate and accurate
information disclosure problems, coupled with the numerous parties
who seek to exploit genetic information, pose significant hazards.
Yet as genetic testing expanded exponentially over the last decade,
regulatory and legislative efforts never gained momentum and today
remain woefully inadequate. Current regulatory efforts, where they
do exist, do not protect against many of the problems posed by
genetic information generally. Nor are the current proposals, both
by academics and before Congress, sufficient to prevent the opening
of the Pandora's Box presented by nutrigenetic testing.
[¶54] Calls for increased oversight of genetic tests have been made for nearly a decade, yet federal and
state regulation remains patchy at best. The Secretary's Advisory
Committee on Genetic Testing (SACGT) set forth its findings nearly
seven years ago that "[b]ased on the rapidly evolving nature of genetic
tests, their anticipated widespread use, and extensive concerns
expressed by the public about their potential for misuse or
misinterpretation, additional oversight is warranted for all genetic
tests." Yet FDA regulation, the Clinical Laboratory Improvement Amendments,
Health Insurance Portability and Accountability Act of 1996
(HIPAA), and state legislation have all been unsuccessful in providing
adequate safeguards.
[¶55] Oversight of all laboratory
tests and their components falls within the purview of the Food &
Drug Administration (FDA), pursuant to the Federal Food, Drug and
Cosmetic Act. Some authors suggest that the FDA is in the best position to
protect the public from genetic test problems, and that the profound
dangers of genetic information "warrant the public delegating the
resources and mandate to the FDA to ensure that the troubling issues
and agonizing choices occasioned by genetic testing are not
compounded by poorly developed or even misleading information."
[¶56] Despite its arguably broad
powers to act in the area, current FDA regulation of genetic testing is minimal. Though there
are "genetic tests available for close to 1000 diseases or
conditions . . . only about a dozen genetic tests have been reviewed
and approved . . . to ensure their safety and effectiveness." Furthermore, FDA regulation is incoherent and vacillating. For
example, the FDA deems genetic testing kits-classified as
medical devices-subject to pre-market approval, yet genetic
testing services (including nutrigenetic testing) are not. In fact, "[c]linical laboratories that plan to market tests as
services and that have not received federal funds are under no
requirement to consult [independent review boards (IRB)] . . . .
[and] few have sought IRB approval or consulted the FDA." Because nutrigenetics is not testing for the presence of a single
marker, but rather involves complex evaluation of numerous different
genetic variants, nutrigenetic test kits are unlikely to be offered
any time soon. At present, nutrigenetics remains a genetic testing
service and thus part of the market which the FDA has barely
acknowledged, much less regulated. Overall, FDA policy and
statements indicate an unwillingness to regulate genetic testing
services, whether because of lack of political will or lack of
resources. Even if the unwillingness or inability of the FDA to regulate
genetic testing services were overcome, real concerns remain
regarding the FDA's "competence to address the complex social
issues attached to genetic testing which go beyond mere product
performance concerns."
[¶57] Another proposed candidate for
regulating genetic testing services is the Federal Trade Commission
(FTC) because its mandate under the Federal Trade Commission Act is to
prevent "unfair or deceptive acts or practices in or affecting
commerce." Effectively addressing the combination of accurate and inaccurate
information problems presented is virtually impossible given the
limitations on the FTC (and other federal regulatory agencies). The
mandate of these agencies is generally confined to addressing
inaccurate information problems. Accurate nutrigenetic information
does not fall within the purview of unfair or deceptive business
transactions.
[¶58] Yet, neither the resources of
these agencies, nor legislative support for ensuring that genetic
information is at least accurate, reach that far. Fully addressing
these myriad problems through federal regulatory agencies would
require vigilance, resources, and concerted interagency efforts, as
well as legislation recognizing and addressing the problems inherent
in nutrigenetic information. Unfortunately, legislation currently
underpinning much of the existing regulatory framework is sparse and
often not focused on the overarching problems.
[¶59] Although several federal laws
touch on genetic information issues, "this patchwork of laws and
interpretations, untested in the courts, does not adequately address
the unique issues surrounding the specific use of genetic
information." First, the Clinical Laboratory Improvement Amendments (CLIA) of
1988 establish minimum quality levels in laboratory testing practices.
Although CLIA may theoretically extend to federal oversight of DNA
analyses, in practice there is much room for improvement. Although various governmental advisory bodies found that "a
smooth transition of genetic testing from research to practice"
would require "creat[ion of] regulations under CLIA that focused
specifically on genetic tests," CLIA has no specific category or
requirements for genetic tests. Because genetic tests are broadly included as part of all
laboratory tests, there are no specific personnel, quality control,
or proficiency-testing requirements for the vast majority of genetic
tests. As a result, nutrigenetic tests are "sometimes performed in
laboratories that have not been approved under CLIA." The effect of delays in implementing CLIA, not to mention its gaps,
means that "neither healthcare providers nor consumers can be
confident in the oversight mechanisms in place to ensure genetic
tests are accurate and reliable. While genetic science and genetic
technologies have leapt into the 21st century, the agency entrusted
with ensuring laboratory quality is stuck in the past."
[¶60] Most importantly in this
context, CLIA does not address the serious issues relating to
genetic counseling or informed consent. Finally, CLIA arguably does
not fit the paradigm of genetic testing because of the huge number
of tests involved in nutrigenetics. The 50K to up to 1M tests
(analyzing 50,000 to up to 1,000,000 genetic variants for one
person) used for pharmacogenetic, ancestry, and other developmental
testing are already orders of magnitude higher than what can
reasonably be quality-controlled under CLIA.
[¶61] Second, HIPAA is frequently
cited as a protection in the context of genetic testing. HIPAA
provides comprehensive protection to individually-identifiable
health information. The statute is not focused on genetic
information specifically, but it does provide that genetic
information may not be treated as a condition "in the absence of a
diagnosis related to such condition." Yet this indirect and minimal approach to protecting genetic
information is inapposite to deal with the large number of concerns
presented by genetic information. The statute is full of gaps that
cut down the limited protections afforded. For example,
HIPAA does not require that
insurance plans offer coverage for genetic disorders or restrict the
amount, level, extent, or nature of the benefits or coverage for
similarly situated individuals enrolled in the plan or coverage, but
instead prevents an insurance plan from applying the premiums or
exclusions on a genetically discriminatory basis. Thus, insurers,
subject to any binding state regulations, may continue to consult
genetic information in determining eligibility and setting premiums
for individual plans. Roughly 23.5 million Americans are enrolled in
individual plans, therefore a significant regulatory gap exists.
[¶62] HIPAA is designed to protect
confidentiality of health records generally, and is not focused on
the special issues surrounding genetic information. In fact,
genetic information is only protected if it falls under the
definition of protected health information. Treating genetic information as no different from other health
information overlooks that the differences-permanency, effects on
relatives, and future information-are precisely why heightened
protections for genetic information are needed.
[¶63] State efforts to provide genetic
testing oversight currently share many of the problems of federal
regulations. State legislation, however, has made more headway than
federal legislative efforts. Seventeen states have prohibited
direct consumer access to any laboratory testing. Thirty-one states
have genetic privacy laws, forty-seven states have genetic
non-discrimination in health insurance laws, and thirty-four states
have genetic non-discrimination in employment laws. Yet these statutes are incomplete even when pieced together,
leaving numerous problems unaddressed. First, the state laws are by
no means uniform, but contain different definitions of the relevant
terms, such as genetic information, genetic tests and
discrimination. Second, the state statutes contain significant gaps which leave
genetic information unprotected from exploitation or nefarious
purposes. Although some states have implemented measures that
indirectly regulate some aspects of genetic testing services-such
as quality assurance requirements beyond those mandated by CLIA and
genetic counselor licensing requirements-nutrigenetic testing
falls largely outside the realm of those regulatory efforts. Third, despite their good intentions and efforts, none of the state
laws afford individuals the autonomy to control fully who gets
access to their genetic information. Finally, as jurisdictional
issues involving services offered through the internet remain
judicially unresolved, even the most stringent state laws may not
offer the necessary measures to protect information affecting
individuals and their families because whether a web-based genetic
testing service is subject to a particular state's jurisdiction
remains uncertain.
[¶64] Even if existing federal and
state regulations worked exactly as intended, third party disclosure
and self-overdisclosure of genetic information-and nutrigenetic
information in particular-give rise to problems that remain
overlooked and inadequately addressed by the federal and state
governments.
[¶65] Recognizing the shortcomings of
current regulation and legislation, various types of proposals
attempt to improve the status quo. These proposals generally
revolve around three ideas: (1) an informational, informed
consent-based approach; (2) anonymization; or (3) stricter
governmental regulations. An assessment of these approaches reveals
their shortcomings, particularly in the dynamic setting of
nutrigenetic testing with the exponential growth of tests for
genetic variants. Many of the proposals are so concerned about
impeding researchers' access to information, however, that they
fail to recognize the benefits to research. The current
unwillingness of people to participate in research studies for fear
of third party disclosure can actually be most effectively addressed
by protecting the individual's autonomy rights.
[¶66] Some critics suggest that the
"essential challenge of this policy reform is going to be the
development of ethically justified consent processes and forms that
responsibly balance the ethical obligations to respect subject
autonomy and protect privacy with the scientific and clinical
benefits of data release." Indeed, many genetic information related proposals focus on
informed consent, which requires the individual to be in possession of relevant facts.
Legally, informed consent does not mean that the individual must
actually comprehend the information.
[¶67] To remedy this lack of
comprehension, the focus of many informed consent based proposals is
to enhance the quality of information to enhance the individual's
comprehension, yielding not only consent, but also informed choice
on the part of the individual. Thus, these proposals often address
the type of information that should be provided and more effective
delivery of that information. One information-based proposal, for
example, is modeled on the Truth in Lending Act, arguing that "[t]he underlying problems of the 1960s consumer
credit market are virtually identical to modern concerns about
non-pathologic elective genetic testing" and that "[i]n both
situations the lack of accurate and understandable information
leaves consumers ill-equipped to make very important personal
decisions."
[¶68] Many researchers also prefer the
informed consent paradigm to other approaches. In fact, informed
consent schemes generally allow researchers a great deal of control.
As long as the individual originally consented to supplying the
sample and the possibility of the sample being used for research,
researchers control the genetic information. The focus of these proposals, therefore, is ensuring that initial
informed consent was legally adequate. For example, one proposal to
safeguard information calls for "a description of the test and a
statement of its purpose; a description of the disease(s) or
condition(s) for which a test will be conducted; an explanation of
the risks of stigma and discrimination; and assurances that the
patient's medical confidentiality will be protected,"
except as explicitly stated.
[¶69] Because this approach requires
genetic testing services to provide a certain amount of educational
material explaining the limitations of the tests, it could alleviate
some problems of accurate information relating to misunderstandings,
such as misinterpreting the information as determinative or
conclusive. Moreover, individuals would at least be aware that
information may later be used to discriminate against them before
deciding to undergo testing.
[¶70] The limitations, however, are
significant. First, the informed consent paradigm does not prevent
discrimination. Instead, it merely warns the individual that
discrimination may result. Thus, rather than being protected, the
individual is simply discouraged from getting the test. Second,
even in the purely medical context-dealing solely with pathologic
issues-informed consent is abstruse. Different courts vary widely
in their application of informed consent, from the extent of
disclosure necessary to the standards by which courts determine
whether disclosure was adequate. Courts have, however, largely agreed that there is no fiduciary
duty requiring the health professional to disclose risks that may
have nonmedical implications, such as economic or social drawbacks. In addition, the health professional's obligation is a duty to
disclose, not to ensure that patients fully comprehend what has been
disclosed to them.
[¶71] Third, the informed consent
model seems ill-suited to the commercial, direct-to-consumer
context. Even assuming that regulations could mandate that genetic
testing services require that testing providers supply relevant
information to patients and subsequently require informed consent
agreements to be signed stating that the consumer wants to proceed
with the test despite the risks, the result may simply be
point-and-click or click-through agreements. Most people do not
actually read through these agreements before ordering services
through the internet. Whether such click-through forms would be any more effective than
currently available click-through contracts in facilitating informed
consent is unclear. Thus, despite addressing some of the accurate
information concerns, there are still significant problems
concerning both accurate and inaccurate genetic information, which
the informed consent model fails to address.
[¶72] Anonymization proposals seek to
draw on the success of the HIV anonymization model, though case law
dealing with anonymization of general medical information highlights
significant drawbacks to this approach. Anonymization is premised
on the idea that without identifying personal information, data does
not threaten individual privacy. Data may be anonymous from the
outset, or it may later be anonymized at the collection, retention,
or disclosure stages. Anonymous AIDS testing creates anonymity from the outset. Unlike
confidential testing, where the individual's name is recorded and
linked to her test results, anonymous AIDS testing uses code numbers
to identify the test-names are never linked to the results.
[¶73] Parallels drawn between HIV/AIDS
tests and genetic testing suggest that anonymous testing could be
successfully extended to genetic testing. Both give rise, for
example, to concerns about discrimination and lack of pre- and
post-test counseling. Despite these similar concerns, there are
significant problems with relying on anonymous testing in the
context of nutrigenetics. First, personal information is needed to
make nutrigenetic recommendations, whereas this is not required for
determining whether an individual is HIV-positive. Second, unlike
HIV/AIDS testing, genetic testing involves new genetic relationships
constantly being discovered and raises possibilities of later
revealing other much more serious conditions. Moreover, when tests
are done anonymously they do not become part of an individual's
medical record; as a result, physicians may fail to catch serious
health concerns.
[¶74] Another approach more frequently
proposed in relation to genetic testing focuses on post-test
anonymization. Removing or obfuscating any identifying information
is thought to sufficiently protect the individual's privacy even
if the anonymized data is disclosed. Based on this idea, for example, federal regulations and
international guidelines routinely permit use of anonymous tissue
samples in research even without consent of the original donors.
[¶75] The greatest problem of
anonymizing genetic information is that "DNA carries so much
information that anonymization may be difficult or impossible." Some argue that an individual's "right to privacy is violated
when personal medical information is revealed to an unauthorized
third party . . . even if such information is rendered anonymous by
the removal of all data relating to the [individual's] identity." The right to privacy understood in this manner means not only
protecting one's identity, but involves "[the] person's
ability to control access to information about oneself," whether or not it is known to be about the individual.
[¶76] Current law, however, fails to
provide for individuals' rights to retain autonomous
decisionmaking authority over the use of genetic data. Though case
law and statutes recognize a right to privacy, the right is
significantly limited, extending only to identifiable medical
information. In fact, federal regulations actually "exempt anonymized samples
from the requirements of informed consent . . . [allowing]
researchers [to] remove identifiers from existing samples [or data]
without seeking consent for their use in data analysis." Still, some researchers argue for greater physician and researcher
control over data in biobanks, maintaining that anonymization has limited value in protecting
participants' interests because "[i]t may not decisively cut the
link to a specific individual, it prevents the use of samples for
purposes such as diagnostics, it may not prevent harms to groups,
and it does not rule out wrongdoing." They therefore argue that the right to withdraw consent should be
restricted to cases where the donor can present sufficient reasons,
with the researchers or biobankers determining whether the reason is
"sufficient"-that is, whether researchers believe that the
reason is based on "genuine, deeply felt concerns . . . not
based on misconceptions."
[¶77] Many researchers generally
disfavor anonymization models because of the limits it places on
their ability to make meaningful use of the data. Arguing that
research interests are not the inherent problem that genetic
information concerns need to address, researchers are often among
those that argue instead for stricter governmental regulations to
prevent nefarious uses of genetic data without impeding access of
researchers who will use the genetic information for medical
progress and societal benefits.
[¶78] Current regulations do not
address many areas of concern regarding genetic testing services. Despite different ideas as to what the appropriate approach should
be, there is widespread support outside of the regulatory agencies
themselves for stricter regulations. Yet, the shortcomings previously discussed highlight only some of
the problems impeding progress in that area. As one commentator put
it, "[d]espite this near unanimity [of the SACGT and
commentators], the clamor for increased regulation . . . is
receiving little attention [from regulators]." Legislative mandates may be more effective in guiding regulatory
efforts and clarifying the reach of protections.
[¶79] Because of the uniformity
required to protect individuals' privacy and autonomy regarding
their genetic information, federal legislation is most suited to
supply the needed legislative mandate. CLIA, HIPAA and other
federal legislation are not adequately focused on genetic
information issues to address the problems of accurate and
inaccurate information, particularly in the context of
nutrigenetics. As one critic and member of Congress contends, "[t]hese
laws leave many gaps in protections, which fail to alleviate the
public fear of genetic testing, and the ambiguity of current law has
resulted in both actual and perceived acts of discrimination leading
to an inconsistent application of laws to deal with such
grievances." Despite sluggish progress, some recent congressional efforts attempt to address certain genetic
information issues.
[¶80] The Genetic Information
Nondiscrimination Act (GINA) demonstrates continuing efforts by
legislators in both the House and Senate to introduce federal
genetic information protections. GINA seeks to protect against genetic discrimination both by
employers and insurance companies. However, strong opposition by
powerful groups, including the U.S. Chamber of Commerce, has blocked
the bill from becoming law to date. Despite these impediments, the pending legislation is an important
step that should be taken. This legislation alone, however, is
insufficient to address the multitude of problems posed by
nutrigenetic testing.
[¶81] First, the proposed legislation
originally defined genetic information as "genetic tests of an
individual or family member . . . used to predict risk of disease in
asymptomatic or undiagnosed individuals." This definition did not reach nutrigenetic testing (or other
lifestyle-related genetic testing), which looks for patterns of
genes that interact with diet in certain ways but do not look for
"disorders" or "diseases." The 2007 version actually eliminated the clause "used to predict
risk of disease in asymptomatic or undiagnosed individuals,"
thereby eliminating the language excluding nutrigenetic testing.
[¶82] Second, the act attempts to ban
discrimination by prohibiting insurers and employers from using the
information for discriminatory purposes. It does not, however,
address the risks of misinterpretation inherent in disclosure to the
individual. Nor does it address the stigmatizing effects. Finally,
it creates a system that relies on litigation for enforcement.
Other than the large costs this can involve, GINA also fails to
consider that in many instances employees may not know that they
were denied coverage or unemployment due to their genetic profile.
Even if the individual suspects genetic discrimination, who carries
the burden of proof (does the plaintiff have to show proof of
discrimination, or does the defendant have to show that there was no
discrimination?) or how a court would assess whether there was
discrimination remains unclear. Thus, although the bill is an
important step in clearly stating that genetic discrimination is
prohibited, it leaves unaddressed problems of misinterpretation and
self-overdisclosure, and carries practicality problems.
[¶83] Another bill, the Genomics and
Personalized Medicine Act of 2006 (GPMA), proposes to facilitate the advancement of personalized medicine, and
as such seeks to "expand the use of molecular tests and
therapeutics, the backbone of personalized medicine." Like GINA, this is an important piece of legislation that should be
passed, but it too is insufficient to protect genetic information.
In fact, in its current form, it seems the bill does not even apply
to nutrigenetic information. The bill is focused on pharmacogenomic
testing (examining the interactions of pharmaceutical drugs
with specific genetic variants). In failing to address nutrigenetic
testing, the GMPA overlooks that nutrigenetic testing (examining the
interactions of nutrition with specific genetic variants)
poses many of the same problems, as well as the additional problems
created by the commercial, direct-to-consumer context.
[¶84] Second, though the bill purports
to "protect[] consumers by reaffirming Congress' commitment to
stopping genetic discrimination and protecting genetic privacy, " the bill is largely focused on the problems of inaccurate
information, rather than on creating protections to also alleviate
concerns about accurate information. For example, the bill dictates
"direct-to-consumer genetic tests to receive greater scrutiny and
regulation." The concern is thus primarily that of ensuring the accuracy and
availability of tests. Consequently, the bill does not address many
of the discrimination and self-overdisclosure problems presented by
accurate genetic information. Moreover, the bill sets forth
relatively few concrete protections, focusing instead on forming
advisory panels to further explore the problems.
[¶85] Finally, the GPMA does not
protect the autonomy of the individual to control which third
parties may access and use that individual's genetic data. The
legislation therefore does not address the primary concerns
preventing individuals from participating in research studies.
[¶86] Although the proposed federal
legislation-both GINA and GPMA-would provide useful protections
and should be passed, they leave open gaps posing significant
dangers to individuals in the form of discrimination,
misinterpretation, and inaccuracies. Moreover, the proposed
statutes do not actually reach nutrigenetic testing. Thus, further
measures are required to protect individuals' genetic information
from self-overdisclosure or harmful third party disclosure.
[¶87] Interest in nutrigenetic testing
is rising, but the differences between nutrigenetic and traditional
pathologic genetic testing remain unaddressed by previous
approaches. The amount of genetic information such tests generate
is much larger than traditional genetic tests, but the accuracy and
reliability of that information is more questionable than that
provided by traditional tests. Problems persist even if the
information is accurate, particularly in light of the many parties
interested in the information for very different purposes. Given
the problems inherent both in allowing and in proscribing these
parties' access, courts and legislators seem stuck between the
proverbial Scylla and Charybdis. Current proposals to address the problem all miss the mark or leave
wide gaps in protection. Despite the serious and numerous problems
faced, however, there is a workable and practical solution.
[¶88] Individual autonomy over genetic
information is the lynchpin to protecting genetic privacy while also
maximizing the promise of genetic testing. Given its permanency,
reach, and developing meaning, the key to protecting genetic
information and preventing the many potentially associated legal
problems is to allow individuals to control the information and
permit disclosure to authorized third parties. At the same time,
individuals themselves must also have protection from the adverse
effects of unwanted information. This can be accomplished through a
double-masking system that separates the raw genetic information
from derived information before giving the information to
consumers. Rather than hope that businesses voluntarily adopt such
protections, Congress must pass legislation providing a uniform
federal requirement to avoid the permanent and devastating effects
likely if genetic information, particularly seemingly innocuous
nutrigenetic information, is not protected.
[¶89] The testing process would start
when the individual visits a nutrigenetic website and chooses to
obtain testing. The website provides a downloadable program that
comes with a unique anonymized number (e.g., 123-456), which is
linked to an anonymous electronic mailbox. The individual sends a
cheek swab to the testing service with the anonymized number
attached. The individual separately pays for the tests and gets a
payment authorization code (e.g., UVW-XYZ) that verifies payment for
a particular service, but does not retain any of the individual's
information. The individual then informs the anonymous electronic
mailbox that payment has been made by entering the code. The
laboratory receives the swab, checks the mailbox to see if payment
was made, conducts the test, and sends the encrypted genetic
information to the anonymous electronic mailbox identified by the ID
number. The individual then downloads a program from the
nutrigenetic testing website encoded with the appropriate algorithms
based on rules provided by the laboratory. The program requests
personal information necessary to answer the query (such as age,
sex, pregnancy status, and so forth). Once the individual enters
the information, the algorithm creates recommendations based on the
specific genetic data. The program runs client-side, which means it runs on the
individual's computer rather than on a server or central computer
of the nutrigenetic testing website. Thus, personal information can
be entered without anyone else, including the nutrigenetic testing
provider, knowing or recording it.
[¶90] The individual then receives the
derived nutrigenetic information without ever learning which
specific gene variants were examined to derive that information.
So, the individual not only does not know the raw genetic
information underlying the nutrigenetic recommendations, but does
not even know what tests were run. The process itself is run
through a laboratory, with a certified clinical geneticist who
determines which information may be released this way to a patient. The geneticist would ensure that only nonpathologic
information is released through the program, leaving release of
pathologic information to licensed health care professionals, such
as genetic counselors and physicians. So far, all of the privacy
problems discussed previously have been avoided because no one has
access to both the raw genetic information and the individual's
identifying information.
[¶91] The individual, however, is not
prohibited from obtaining further information, including the raw
genetic information. To do so, the individual can release the data
to a licensed physician or genetic counselor who can provide
adequate counseling before giving the information sought, including
the raw genetic information. The individual provides the licensed health care
provider the code to the license number and the patients' computer
URL. The system then verifies that this is a licensed healthcare
professional against a database of licensed healthcare providers.
If the professional is not in the database, the licensing must be
certified and the name added to the database by the system curator
before information is released.
[¶92] Individuals can also authorize
the release of the raw genetic information to their physicians for
other purposes, and they can be contacted by researchers, biobanks,
or other parties interested in using the information. The
individuals will never be directly contacted, but can receive
research participation requests by periodically checking their
anonymous mailbox. This way, individuals can contribute to research
efforts but ensure that their information is not transmitted to
unauthorized or unwanted sources, such as insurance companies.
[¶93] The double-masking model
provides a relatively straight-forward and practical way to preserve
individual autonomy while also allowing the potential personal,
medical, and societal benefits of genetic testing to be realized.
Thus, double masking demonstrates that it is not only desirable, but
feasible to protect individual autonomy over genetic information.
[¶94] As theoretical issues and
technological realities are recognized and incorporated into
proposals to protect genetic information from potentially
devastating generations of people, the double-masking model offers a
relatively simple and workable system that addresses the most
critical information concerns-specifically, the accurate
information concerns widely unaddressed or inadequately addressed by
legislation. One of the greatest strengths of this model is that it
incorporates the strongest aspects of the informed consent and
anonymization models.
[¶95] Significantly, double masking
does not displace regulatory efforts, but compliments and completes
a strong regulatory regime, including the proposed Genetic
Information Nondiscrimination Act and Genomic & Personalized
Medicine Act. While the particulars of the legislative efforts are
worked out and the impact of nutrigenetics and lifestyle genetic
testing on genetic information privacy and autonomy becomes clearer,
the double masking model provides real protections and obviates many
of the legal problems previously highlighted by preventing the
irreversible and uncontrolled release of genetic information.
[¶96] Allowing people to receive
genetically tailored recommendations without releasing unwanted
information to either the individual or to third parties without
further review avoids future legal problems such as insurance or
employer discrimination. Autonomy is preserved by providing the
option of obtaining the raw genetic information through a licensed
physician or genetic counselor, who will provide the necessary
background information to avoid, as far as possible,
misinterpretation of the data. Yet relying on businesses to
voluntarily implement a program that provides these protections is
not sufficient. The extreme sensitivity and permanence of this
information necessitates a uniform and mandatory requirement,
enacted through Congressional legislation.
[¶97] Safeguarding nutrigenetic
information requires congressional action, ensuring that no gaps
leave individuals vulnerable or afraid to undergo nutrigenetic
testing. The double-masking model is currently the best way to
protect against self-overdisclosure, harmful disclosure to third
parties, and misinterpretation. To broadly account for possible
future developments, however, legislation should also be passed to
more generally ensure for genetic information autonomy, with
provisions mandating the essential functions provided by the
double-masking model. Therefore, Congress should pass legislation
that (1) protects individuals from self-overdisclosure and (2) gives
individuals control over third-party disclosure. The double-masking
model could be implemented to satisfy regulations pursuant to the
enforcement of that legislation.
[¶98] A genetic information autonomy
act could be framed as a bill to protect individuals' rights to
control their genetic information from unwanted or harmful
disclosure, thereby encouraging individuals to benefit from genetic
testing and participate in structured research of great commercial
and public health interest. This recognizes the overlapping
interests of both researchers and individuals in supporting this
legislation, rather than erroneously portraying individuals'
interests as divergent from that of researchers.
[¶99] The provisions of such a bill
should address the three problems that are most overlooked under
existing and proposed legislation and regulatory efforts: harmful
and unwanted disclosure, misinterpretation, and self-overdisclosure.
Three key provisions would address all of these issues:
Section 1. Derived Genetic
Information.
Direct-to-consumer genetic
testing services shall disclose only derived genetic information
directly to individuals except as provided in Section 3, and shall
ensure that reverse decoding of the underlying raw genetic data is
not readily possible.
Section 2. Raw Genetic Information.
Raw genetic information shall be
disclosed to individuals only by a qualified healthcare
professional, and only after the individual has given explicit,
informed, and uncoerced consent.
Section 3. Third Party Access.
Third parties may obtain access
to the information only after receiving explicit, uncoerced, and
fully informed authorization from the individual, and may not
combine an individual's genetic information from different data
sources without the originating individual's explicit, uncoerced,
and fully informed consent.
[¶100] The first provision protects
individuals from the harms of receiving information that may later
be given meaning completely unrelated to nutrigenetics, and which
might have devastating effects on the individual. In addition to preventing self-overdisclosure, this provision also
encourages consumers and nutrigenetic testing providers to make the
most of the promise of genetic testing benefits by allowing the
derived genetic information to be readily obtained and transmitted.
[¶101] The second provision provides a
safeguard for mitigating the problem of accurate genetic information
leading to misinterpretation, by allowing individuals to obtain raw
genetic information, but only through licensed genetic counselors or
physicians to whom they have released the information. Because
these licensed professionals can explain the risks and reasons why
one may want to refrain from learning the raw genetic information,
this provision provides another protection against
self-overdisclosure. This requirement is a procedural safeguard to
protect individual autonomy and the right to obtain personal
information while also protecting the privacy right not to know
unwanted information.
[¶102] Critics may urge that
individuals should be able to access their own information directly
without going through a licensed healthcare professional. Most
people, however, have use only for the derived information, which
translates the raw scientific data into actionable information, and
would not feel like they were losing much, if anything, by receiving
only that form of information in the first place. Furthermore, such
restrictions are not novel; just as regulations require a
prescription for potentially dangerous medicine, this provision
prevents potentially toxic information from reaching customers
without proper safeguards.
[¶103] The third provision addresses
the problem of harmful disclosure to third parties. In requiring
informed, uncoerced consent by the originating individual, this
provision prevents information from being sold or otherwise
transmitted to third parties who may use the information for
discriminatory or otherwise harmful purposes. Granting the
individual control also provides a tremendous tool for research.
Guaranteeing that third parties will not be given access without
explicit consent from the individual addresses the serious
impediment of insufficient study samples that many genetic
researchers now face. That is, individual control assuages fears of
third party disclosure that currently prevent many people from
participating in research.
[¶104] Although the double masking
model and the three provisions recommended to mandate the essential
functions of that model are particularly helpful in addressing the
heightened concerns in the realm of nutrigenetics, they would be
just as appropriate to protect other types of genetic information.
Whereas the first two provisions, on derived and raw genetic
information, are arguably more important for the commercial context
of nutrigenetics than the healthcare context of pathologic genetic
testing, the third provision-dealing with third party access-would
be particularly helpful in safeguarding all genetic information.
Requiring explicit, uncoerced, informed consent by the originating
individual before disclosing genetic information to third parties
would avoid discrimination concerns while also providing assurances
that would encourage individuals to participate in important genetic
research, thereby maximizing the public investment in the Human
Genome Project.
[¶105] Previous proposals regarding
general genetic information protection identified many of the
problems that also arise in the context of nutrigenetics. Yet the
contextual change from a doctor-patient interaction to a
consumer-business exchange places new dimensions on, and heightened
urgency to, information problems. In particular, the changed
context heightens accurate information problems of misinterpretation
and discrimination, which are only exacerbated by the exponentially
larger number of genetic variants being tested to provide
nutrigenetic recommendations. The current regulations are patchy
and insufficient to provide adequate safeguards.
[¶106] Though previous proposals have
sought to address this inadequate system, these proposals not only
fail to consider nutrigenetic-or any other nonpathologic
genetic-testing, they also fail to protect individual autonomy.
In doing so, these proposals fail to recognize that the positive
effects of ensuring individual autonomy over genetic information
will likely outweigh the drawbacks to research, because it
eliminates the greatest impediment to recruiting research subjects.
Previous proposals also largely focus solely on discrimination, and
fail to address issues of self-overdisclosure. The double-masking
proposal, by contrast, balances the right of control by the
individual with the need to protect the individual from adverse
effects of unwanted or unrequested information, while also creating
a regulatory environment that alleviates fears and thereby
encourages participation in research.
[¶107] Whether or not the legislation
covers all genetic testing, or just addresses the particularly
critical area of nutrigenetic testing, federal legislation must
close the large gaps that currently exist by requiring testing
providers to implement procedures that incorporate the essential
features of a double-masking model-protection against
self-overdisclosure, harmful disclosure to third parties, and
misinterpretation. A uniform federal law will obviate disparate
treatment of genetic information and different protections regarding
genetic information accessed without individuals' consent.
Without such a uniform law, there remains significant room for
abuses and nutrigenetic information remains a significant risk.
Enacting the suggested provisions focusing on derived genetic
information, raw genetic information, and third-party access will
allow nutrigenetic testing to provide countless benefits to
individuals and society.
