A New Padilla Proposal. The California proposal comes from state Senator Alex Padilla. If Padilla’s name sounds familiar, it is likely because he is the same Senator Padilla who introduced a widely discussed “bioinformatics bill” to the California legislature two years ago. That bill (S.B. 482) was drafted with the close participation of direct-to-consumer (DTC) genetic testing company 23andMe, and 23andMe and Senator Padilla later co-sponsored a policy forum in San Francisco on “genomics and the consumer” (at which I presented).

Unlike Padilla’s earlier effort, which would have significantly altered the regulatory environment for so-called “post-CLIA bioinformatics services” (basically, genetic interpretation performed after the generation of genetic genotype or sequence data in a CLIA environment), 2011’s effort (S.B. 559 (pdf)) will almost certainly be viewed as a much less controversial proposal.

Genetic Information and Civil Rights. The primary purpose of S.B. 559 is to “expand the bases upon which discrimination is prohibited” under California law to include genetic information.

The act opens with numerous legislative findings detailing both the promise of genetic testing and related technologies, including genomic sequencing, as well as California’s “shameful” history of involuntary sterilization and race-based genetic discrimination. As a result, according to S.B. 559, California has a “compelling public interest in” both “realizing the medical promise of genetics” and “relieving the fear of discrimination and in prohibiting its actual practice.”

In light of the act’s purpose, the substantive provisions of S.B. 559 will come as no surprise. The two major changes are to the Unruh Civil Rights Act (California Civil Code §51 et seq.) and the Fair Employment and Housing Act (California Government Code §12900 et seq.). Both would be amended to include “genetic information” as an impermissible basis of discrimination, alongside sex, race, color, religion and a number of other specified bases. Appropriately, the definition of “genetic information” to be used closely tracks the language found in §201 of the Genetic Information Nondiscrimination Act of 2008 (GINA).

While Senator Padilla’s announcement declares that S.B. 559 would expand the protection of genetic information under California law beyond GINA’s provisions, to prohibit discrimination based on genetic information “in the areas of housing, employment, education, public accommodations, health insurance coverage, life insurance coverage, mortgage lending and elections,” the reality is that use of genetic information in several of these areas is already prohibited or substantially restricted. (See, for example, §10140 et seq. of the California Insurance Code for disability and life insurance).

Unlike Vermont’s proposed H.368 and Massachusetts’ Genetic Bill of Rights, which represent more significant departures from the status quo when it comes to the regulation of genetic information, California’s S.B. 559 would not break any new conceptual legislative ground. Rather, it would continue the ongoing and important process, begun by many states (including California) and advanced significantly by GINA, of placing genetic information on a par with other prohibited bases of discrimination.

Looking Beyond “Genetic Legislation.” Having looked at the recent proposals in Massachusetts, Vermont and California, is it fair to say, as both the Council for Responsible Genetics and Forum on Genetic Equity have, that there is a “groundswell for genetic privacy building in states”?

Before we answer that question, a few key points of clarification. First, these are legislative proposals, not enacted state law. As we saw with GINA, which took 13 years of Congressional debate before it was finally passed, shepherding a legislative proposal through the political process and turning into the law of the land is rarely as simple or quick as its sponsors might hope.

Second, and more importantly, not every piece of “genetic legislation” shares the same aims or would produce the same effects. While not identical, it is true that the legislative proposals in Vermont and Massachusetts appear to reflect a shared vision of granting individuals clear property rights in their genetic information and bolstering privacy protections for that information.

The California proposal, on the other hand, actually shares fairly little in common with Vermont and Massachusetts; at least once you look beyond the fact that it is a proposal for “genetic legislation.” S.B. 559 declares its purpose to be “relieving the fear of genetic discrimination and….prohibiting its actual practice.” That’s clearly an important goal, but it is just as clearly substantively distinct from articulating new genetic property rights or seeking out greater privacy protections for genetic information. (However, as reported by Pharmacogenomics Reporter, sponsors of the California proposal are considering expanding its scope to potentially address issues such as genetic property rights.)

So is a “groundswell” building at the state level? Perhaps, although when it comes to the specific issue of genetic privacy, we’re not sure that a pair of state legislative proposals (Massachusetts and Vermont) qualifies as a groundswell. We’ll need to see more state proposals – and at least some legislative adoption – before declaring that a meaningful change in the genetic privacy landscape is taking place. After all, as both the National Conference of State Legislatures and the Council for Responsible Genetics have demonstrated, most states have at least some laws on the books pertaining to genetic privacy. The extent of these laws, including the degree to which they are enforced, varies considerably, but it is not as if the issue of genetic privacy has never before been considered by the states.

What is clear is that, at both the federal and state level, legislators and regulators are continuing to grapple with how to handle the proliferation of personal genetic information. It remains to be seen whether these most recent legislative proposals – in Massachusetts and Vermont, and to a lesser extent California – represent the arrival of a new legislative approach grounded in privacy protection and individual rights to genetic information or whether they are only the latest word in a much broader conversation that has only just begun.

Taken as a whole, the legislation, if enacted, would confer upon Massachusetts residents a significantly expanded set of genetic rights than exist under current federal law. Below we examine several of the bill’s most noteworthy proposals.

The MA GBR addresses perceived gaps and limitations in the coverage provided by major federal statutes, including the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and the Genetic Information Nondiscrimination Act of 2008 (GINA), and the Constitution of the Commonwealth of Massachusetts, by seeking to place genetic information on a par with medical records.

The MA GBR’s provisions set basic limitations on the use, including the commercial use, of personal genetic information that would go above and beyond the user agreements and privacy policies employed by some commercial services. For example, the MA GBR prohibits the use of genetic information for marketing or determining credit worthiness. With the proliferation of genetic information, particularly in consumer or commercial contexts, such basic limitations would help address concerns about the lack of mandatory restrictions regarding the sale, transfer or other use of personal genetic data.

The Personal Property Theory of Personal Genomes. But the MA GBR goes much further than mere consumer protection reforms. Section 1 of the proposed legislation explicitly declares genetic information to be “the exclusive property of the individual from whom the information is obtained.” (emphasis added)

Granting individuals express property rights in their genetic information would be significant. Not only does the MA GBR contemplate genetic information being controlled from the grave – individuals may bequeath to a surviving spouse or family member authorization to use their genetic information under the terms and conditions of their will – but the MA GBR also recognizes the inherent monetary value of genetic information. For example, the proposed bill would require that, prior to entering into a contract to share one’s personal health information, genetic material or genetic information, the individual must be notified, orally and in writing, that “their donation is a commodity and is of some material value.” (Section 1(b)) Further, if the collecting entity has a possible future intent to commercialize the genetic information, the individual donor “must be made aware and compensated at a fair market value.” (Section 1(b))

Supporting these and other MA GBR restrictions on the use of genetic information are the bill’s proposed civil and criminal penalty provisions, which are likely to generate considerable discussion as the bill works its way through the legislature. On the civil side, violations of the MA GBR are automatically violations of the state’s unfair or deceptive practices act (Chapter 93A Section 2), and violators additionally are subject to statutory damages of $5,000 ($100,000 if the MA GBR violation resulted in profit or monetary gain to the violator). The bill provides for both a private and public right of action, and it carves out only limited exceptions for violations by members of law enforcement, employees of the state DNA database, and those working under judicial order. On the criminal side, Section 16 of the MA GBR amends the Commonwealth’s Identity Theft Law (Chapter 266 Section 37E) to add genetic information to the list of “personal identifying information” protected from identity thieves. The identity theft law currently defines “personal identifying information” to include, among others, a person’s social security number, mother’s maiden name, financial account numbers and computer passwords. If the MA GBR is passed, those found guilty of identity theft stemming from the misappropriation of genetic information could face maximum fines of $5,000 and imprisonment for two-and-one-half years.

While individual citizens may have little chance of detecting or deterring larger entities from illicitly obtaining or using genetic information, the MA GBR provides at least the possibility of government action in the face of such violations. The civil and criminal penalties provided by the MA GBR, if enacted, would offer one of the strongest set of protections yet against surreptitious genetic testing.

The Next Generation of GINA? The MA GBR also seeks to expand upon the protections afforded by the Genetic Information Nondiscrimination Act of 2008 (GINA). GINA comes in two parts and prohibits genetic discrimination by healthcare insurance providers (Title I) and employers (Title II).

Despite its broad protections, which are still being implemented, GINA has several widely recognized gaps. Most notably, Title I of GINA does not proscribe genetic discrimination in the areas of long-term care, life or disability insurance.

The MA GBR seeks to expand on Massachusetts’ already broad protections against the use of genetic information by insurers while plugging some of the gaps left by GINA. Section 2 strikes language in Massachusetts law that currently allows insurers to use genetic information submitted on an insurance application to set terms for the applicant’s disability or long term care insurance policy. (See Chapter 175, Section 108I(c)) Section 3 similarly addresses life insurance. (See Chapter 175, Section 120E) Section 4 addresses auto insurance. Taken as a whole these provisions would significantly revise current Massachusetts insurance law and create what would appear to be, at least with respect to the use of genetic information, the most insured-friendly climate in the entire country.

It should come as no surprise that Massachusetts, of all states, would have an interest in addressing the gaps in GINA’s coverage. The widely-publicized Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) study, led by researchers at the Boston University School of Medicine, has for years published data suggesting that genetic information (in this case genes associated with Alzheimer’s susceptibility) can have a material effect on an individual’s decision to purchase long-term care or life insurance. Though such a genetic test is not currently common, or thought to be commonly requested or utilized by insurers in determining coverage or setting rates, Massachusetts residents and lawmakers are clearly aware of the issue and the potential consequences of GINA’s limitations.

A Bill of Rights or a Barrier to Progress? The merits of the MA GBR will be heavily debated on Beacon Hill over the course of the coming months. Turna Ray of Pharmacogenomics Reporter noted last week that, as of early February, the bill had the support of six Massachusetts state senators and 13 state representatives. Despite speculation that private interests, particularly insurers, might seek to block the bill’s passage – or at least scale back its protections – Steve May, the executive director of the Forum on Genetic Equity, the advocacy group which crafted the bill, is confident that the MA GBR will pass.

Whether the MA GBR passes in its current form, or indeed whether it passes at all, one fact is inescapable – the MA GBR’s efficacy will be inherently limited by geography. And that geographic limitation could also produce unintended effects on personalized medicine innovation, both within Massachusetts and more broadly.

While the MA GBR would provide an unprecedented degree of security and control to Massachusetts’ residents and their genetic data, has it struck the proper balance against other considerations? For example, while the bill carves out minor exceptions for law enforcement, employees of the state DNA database and those acting upon judicial orders, those safe harbors are probably not broad enough to protect all legitimate scientific and research activities. Further, such a dramatic increase in the proscribed uses of genetic data, and in the restrictions and costs imposed even on lawful uses, could well erect unintended barriers to the type of innovative genetic research conducted at numerous Massachusetts institutions – both non-profit and for-profit. For example, would the added compliance and compensatory costs of the MA GBR (just what is the fair market value of an individual’s genome these days anyhow?) discourage academic or commercial users of genetic data from seeking out or even accepting Massachusetts residents?

This is a delicate line to walk. On the one hand, thanks to a decade of progress since the first human genome was sequenced, widespread personalized genetic data is not only possible – something we could not say as recently as a few years ago – it is more meaningful and, yes, more valuable than ever before. On the other hand, as we are frequently reminded, we have a long way to go in our understanding of human genomics, including how to use personal genetic data to bring about truly meaningful improvements in our health and quality of life.

In addition to the myriad scientific and technological challenges which must be overcome, for the next decade of human genomics to be a successful one, law and policy makers must work with the public to balance individual rights against societal interests. The push to create strong individual rights in genetic data, and to couple those rights with robust privacy protections, must also acknowledge the vital importance of broadly collecting and sharing genetic and other health data in research, clinical and commercial settings. The trick will be to design systems strong enough to prevent abuse but flexible enough to promote innovation and adapt to not only changing scientific, medical and commercial practices but also to evolving social attitudes around genetic data.

While it is clear that change in our legal and regulatory structures is needed, it is not clear if the MA GBR represents the right sort of change. On the one hand, as the Forum on Genetic Equity’s press release (pdf) and the legislation’s name itself declares, the Genetic Bill of Rights may represent fundamental and needed change that will pave the way for sweeping federal changes. On the other, and just like the New York bill we discussed last month, the bill may be an overly protectionist “legislative band-aid” that would grant excessive genetic rights and privacy protections to a minority of individuals at the expense of more meaningful commercial, scientific and clinical innovation.

Just as important as the potential effect of the Massachusetts legislation on Massachusetts residents and researchers is its effect on the ongoing national conversation about these issues. Certainly, legislation that takes effect in Massachusetts would have an outsized effect on biomedical research, investment and innovation, given the prominence of Massachusetts in these areas. But ultimately a patchwork of state regulations cannot be the answer. Whatever the balance to be struck between individual genetic rights and privacy and the needs of genomic research, medicine and commerce, this is an issue that is by its very nature national – and even global – in scope.

Credit the Forum on Genetic Equity and its Beacon Hill supporters for aggressively pursuing these issues, and continuing to push the dialogue forward. Ultimately, however, for the next decade of genomics to be anywhere near as successful as the previous one, meaningful regulation will require much more than the MA GBR, or similar state-level efforts. It will require a major and coordinated national and international effort to replace our current patchwork scheme with one that protects personal genomic data while providing the clarity and flexibility researchers, clinicians and companies need to unlock the potential of those data.

The first is primarily a curiosity: the allegation that Chinese authorities are spying on deCode Genetics, Iceland’s most prominent genetic research company and provider of the direct-to-consumer genetic testing service, deCODEme. Nobody seems to know exactly what China is looking to gain by clandestinely exploring Iceland’s genetic genealogy. You are welcome to speculate in the comments.

The second raises broader issues: the revelation that the State Department’s ongoing human intelligence collection directives include requests for “biometric information” on key world leaders, including United Nations arms inspectors, the Director General of the World Health Organization (WHO) and key advisors and aides to United Nations Secretary General Ban Ki-moon. A separate cable detailing intelligence collection priorities in Africa’s Great Lakes region clarifies that “biometric information” includes “health [data]…fingerprints, facial images, DNA, and iris scans.”

Not disclosed in the WikiLeaked cables: why the State Department wants the biometric data or whether any have been successfully obtained.

Surreptitious Testing: An Overview. The cables are, however, a reminder that the law surrounding the surreptitious collection and testing of biometric data, including DNA, remains extremely murky.

While the extent to which surreptitious testing is performed in diplomatic and intelligence contexts is not publicly known, such testing is commonplace in law enforcement settings. For example, police routinely collect and analyze “abandoned DNA” during forensic investigations. Indeed, one of the primary indices of the FBI-run Combined DNA Index System (CODIS) is the Forensic Index. The Forensic Index is comprised of DNA profiles constructed from biological specimens from unidentified individuals collected at crime scenes. These DNA profiles are then compared against similar offender and arrestee indices, which are also housed in CODIS, to aid in law enforcement efforts. Several high-profile criminal investigations, including the recent arrest of the “Grim Sleeper” serial killer, have been aided by this technique.

Concerns about surreptitious sampling and testing have also appeared in other contexts. During this past summer’s Congressional hearing on direct-to-consumer (DTC) genetic testing, the Government Accountability Office (GAO) presented results from a series of undercover encounters with DTC companies. One recording appeared to show a company (later identified as Pathway Genomics) encouraging a prospective customer to collect and send in a saliva sample from her fiancé without his consent, in order to surprise him with results of a genetic test.

In 2009, New Scientist reporters Peter Aldhous and Michael Reilly used similar tactics to demonstrate that it was possible to obtain genetic information about someone without that individual’s consent and detailed their experiences in a special investigation: how my genome was hacked.

Shortly after the 2008 presidential election, an article appearing in The New England Journal of Medicine (NEJM) considered the possibility that, by the time the 2012 election rolls around, presidential candidates might be at significant risk of surreptitious genetic testing. The authors worried that “persons or groups opposing a candidate [and] hoping to harm his or her chances for election” would obtain and release genetic information without consent, a form of “genetic McCarthyism.” This would not be very difficult, the authors concluded, since “sufficient DNA for amplification and analysis can be obtained from loose hairs, coffee cups, discarded utensils, or even a handshake.” The WikiLeaks revelations about State Department officials seeking biometric information on world leaders indicate that the NEJM speculation may already be reality on the world stage.

There are numerous other scenarios in which surreptitious genetic testing might be employed to acquire information about less famous but equally unwitting individuals, including to establish paternity or to evaluate a potential romantic partner.

Legal Uncertainty Surrounds Surreptitious Testing. To many, it seems like “there oughta be a law” against surreptitious genetic testing, at least in certain settings. However, as reported last year by the Genetics & Public Policy Center, there are “limited legal safeguards against surreptitious DNA testing or its potential consequences for those subject to nonconsensual testing.”

While the 2008 passage of the Genetic Information Nondiscrimination Act (GINA) prohibits the unauthorized acquisition or use of genetic information in certain contexts (health insurance and employment), it offers only limited protection against surreptitious testing. For instance, while it covers most of the Federal government, including the State Department, GINA does not apply to the military or the VA. It also does not restrict behavior outside of the insurance and employment contexts including, for example, by political adversaries or their supporters during a presidential campaign. (Interestingly, the NEJM article declined to advocate for “laws that would make it a federal crime to sequence a candidate’s DNA without consent,” preferring voluntary restraints and education instead.)

Other Federal statutes, such as the Health Insurance Portability and Accountability Act (HIPAA) may offer protection under certain scenarios (e.g., the use and disclosure of genetic information by covered entities, predominantly health plans and healthcare providers) but, again, fall short of providing a complete and clear prohibition on surreptitious genetic testing.

The 2008 GPPC report also looked at state law to evaluate which states proscribe surreptitious DNA testing (pdf). Determining the exact number of states that prohibit this behavior depends heavily on context. Some state statutes prohibit unauthorized acquisition or analysis of genetic information, while others apply only to unauthorized disclosures. Similarly, some state statutes appear to encompass all manner of genetic information, whereas others cover only certain genetic information (e.g., health-related information) or apply only to certain settings (e.g., employment or insurance discrimination). The National Conference of State Legislatures (NCSL) has also compiled data on state genetic privacy laws and, like the GPPC report, the NCSL data indicates considerable variability at the state level.

In the absence of a comprehensive federal law, state prohibitions are currently the main source of relevant law when it comes to restricting surreptitious genetic testing. But not all states have such laws. Whether surreptitious genetic testing is illegal thus typically depends on a combination of who is doing the testing, whom they are testing, what they are testing for, how they are using the results and, most of all, the state or states in which those activities take place.

Finally, there is a possibility that surreptitious genetic sampling and testing may be prohibited on either common law or constitutional grounds, at least in certain situations. For example, in the Texas newborn blood spot litigation, which we covered earlier this year, the plaintiffs alleged both Fourth Amendment (unreasonable search and seizure) and Fourteenth Amendment (right to privacy) violations resulting from the state’s policy of retaining newborn blood spots for ongoing research without explicit parental consent. While both claims survived summary judgment, and may have helped precipitate the litigation’s settlement, these and other legal theories remain untested in most states and under most circumstances.

What We Should Learn From WikiLeaks. Coming full circle, the leaked State Department communiqués raise important questions to which we do not have clear answers. In particular: under what circumstances is the surreptitious collection of biometric data, including genetic data, appropriate?

For most, the answer to that question will depend to some degree on context. Should State Department officials gathering intelligence abroad have a greater or lesser ability to pursue surreptitious genetic testing than domestic law enforcement agents? Should private individuals be permitted to conduct surreptitious genetic testing in certain circumstances (e.g., to confirm paternity) but not others (e.g., when shadowing a politician or celebrity)?

While individual answers may vary, we expect the law to provide us with clear guidelines. As is made clear by the above analysis, however, there exists a wide range of scenarios where surreptitious genetic testing, should it occur, would fall squarely within a legal gray area.

This is in stark contrast to the situation in other countries. In the United Kingdom, for instance, the Human Tissue Act 2004 made it a “criminal offence to take a sample from someone to test their DNA without their consent, except for medical purposes and lawful investigative purposes” as of 2006. Similarly, while Germany’s new Human Genetic Examination Act (also known as the GenDG) is overly restrictive in many respects, § 8(1) of the GenDG (pdf) clearly prohibits “any genetic examination or analysis” without the “express, written consent of the subject person, both in regard to the respective genetic examination and genetic sample.”

Whether the United States adopts the same approach to surreptitious genetic testing or not, the issue must be addressed. We must articulate, much more clearly than at present, the situations in which unconsented genetic testing, analysis and disclosure is permissible, and those in which it is proscribed.

Each year, the availability of low-cost, high-quality genetic information expands. Along with a wide array of legitimate and beneficial uses, the growing accessibility of this genetic information brings with it an increasing number of opportunities to employ and to abuse surreptitious genetic testing. As we continue to push forward into the era of personal genomics, the time has come to seriously discuss a comprehensive legal framework for surreptitious genetic testing.

We also promised to take a closer look in today’s post at several substantive features of the EEOC’s new regulations.

Defining the Terms. The EEOC, the government agency generally responsible for enforcing federal employment nondiscrimination laws, was the logical choice to promulgate regulations under GINA’s Title II, which governs the use of genetic information by employers and similar entities. But not all of GINA’s statutory provisions were within the EEOC’s area of expertise.

For that reason, the EEOC solicited help from outside agencies, including the National Human Genome Research Institute (NHGRI), to aid in developing both the proposed and final regulations. Despite a few stumbles with the science (notably its description of the BRCA1 and BRCA2 genes), the EEOC’s final regulations—as well as its explanatory preamble—are laudably clear and informative. The preamble and the regulations themselves include numerous illustrative examples—something that was largely lacking in the draft regulations—and they should be particularly helpful to the predominantly non-scientific audience tasked with implementing GINA.

For example, public commenters requested additional clarification with respect to what does and does not constitute a “genetic test.” The EEOC responded in spades. According to the EEOC, genetic tests include (i) BRCA testing and other diagnostic cancer testing, as well as prognostic testing for Huntington’s Disease, (ii) carrier screenings of adults to determine the risk of conditions such as cystic fibrosis or sickle cell anemia, (iii) reproductive genetic testing and screening of all kinds, including amniocentesis, newborn screening and preimplantation genetic diagnosis, (iv) pharmacogenetics testing and (v) DNA testing for ancestry or familial/paternity relationships. In short, just about every technology on the personal genomics landscape appears to fall within the definition of genetic test.

Another important definition, clarified in the final regulations, is that of a “manifest” disease. The EEOC clarifies at several points in the preamble its position that genetic information alone is not equivalent to a disease or disorder: “other signs or symptoms must be present.” The EEOC uses the example of Huntington’s Disease which, despite its high degree of penetrance, is not considered to be a present disease even following a positive genetic test until actual symptoms arise.

This distinction is crucial because, under § 1635.12 of the final regulations, employers are not barred from using, acquiring or disclosing medical information about a “manifested disease, disorder, or pathological condition,” even when such disease or disorder has a genetic component. (However, employers may be barred from discriminating on the basis of such information by other federal law, including the ADA.)

The final regulations also provide greater clarity with respect to the definition of “family member,” which includes all dependents (including spouses, adopted children and other people who are not genetically related) and all other persons “related from the first to the fourth degree of an individual.” Other key terms, including “genetic information,” “genetic services,” and “family medical history” also receive helpful background discussion.

Deliberate vs. Inadvertent Acquisition. It is illegal under GINA for employers to “request, require, or purchase” genetic information. In considering what constitutes a “request” for purposes of GINA, the proposed rule was structured to prohibit the “deliberate acquisition” of genetic information. Some commenters, including the American Civil Liberties Union, criticized this proposed rule for suggesting that employers must have the “specific intent” to acquire genetic information to run afoul of the law. (Others suggested that requiring a “purposeful act” was, in fact, what Congress intended.)

In the final regulations, the EEOC sided with the ACLU in determining that “request” extends beyond a specific or deliberate intent to encompass a variety of actions that are “likely to result” in the acquisition of genetic information.

Despite this broad prohibition on the request of genetic information, GINA provides several exceptions, including with respect to “inadvertent requests” and “commercially and publicly available information.” The “inadvertent” request or disclosure scenario was originally inserted by Congress to address the so-called “water cooler problem,” in which employers inadvertently received genetic information, including family medical history, from employees in the course of routine conversations or interactions. Likewise, the “publicly available information” exception was intended to protect employers who acquired genetic information about their employees by, for instance, watching the evening news.

To aid in understanding the specific contours of these exceptions, the EEOC has provided significant clarifying guidance and examples. For instance, while an employer does not violate GINA by participating in “water cooler conversations”—whether those conversations happen around a conventional water cooler or in more modern settings, including on Facebook, LinkedIn or other social media platforms—that information is not an invitation to bypass GINA. The employer and its agents must “not then ask follow-up questions that are probing in nature.”

Similarly, the category of “commercially and publicly available materials” will generally not include materials made available to the public, or to some portion of the public, on a restricted basis (i.e., when more than simple registration is required for access). For example, research databases made available only to the scientific community or Facebook profile information shared only with “friends” (as opposed to information visible in a public database or on a public website) would not satisfy this exception.

Even genetic information that is available to the public on an unrestricted basis—as is true of genetic information provided by individuals, including one of us, who participate in public genomics projects—is not necessarily fair game for employers under GINA. If employers access such sources “with the intent of obtaining genetic information,” particularly if it comes from a source “that focuses on issues such as genetic testing of individuals” they will not be able to take advantage of GINA’s limited exception for publicly available materials.

As the EEOC explains, GINA’s limited exceptions are “intended to protect from liability a covered entity that inadvertently obtains genetic information and not a covered entity that is actively searching for genetic information.”

When it comes to applying GINA’s various exceptions, employers should remember that Title II of GINA serves three related but ultimately separate functions: (i) a general prohibition on the request for or acquisition of genetic information, (ii) an ever-more-complete prohibition on the discriminatory use of genetic information in employment-related decisions and (iii) strict confidentiality requirements pertaining to any sharing or disclosure of genetic information, however obtained, by employers. Thus, even genetic information that is requested or acquired lawfully under one of GINA’s exceptions is still subject to the remaining two prongs of GINA Title II, and it may not be used to discriminate in employment-related decisions or disclosed in violation of GINA’s confidentiality provisions.

No New Exemptions. In addition to clarifying the scope of existing exemptions, the EEOC specifically declined to introduce new exceptions under GINA relating to the use of genetic information in evaluating the ability of an employee (or prospective employee) to safely and effectively perform a particular job. Exemptions proposed by commenters would have permitted a covered entity to request genetic information (i) as part of “a medical examination conducted to assess an individual’s ability to perform a job” or (ii) “to determine whether an individual has a particular manifested disease, disorder, or pathological condition and where information about [that condition], as opposed to its signs and symptoms, is necessary to evaluate an individual’s ability to perform a particular job.”

The EEOC declined to create such an exemption in each case, citing both a lack of authority under GINA and its belief that “there does not appear to be a case in which the diagnosis, as opposed to the signs and symptoms, is necessary to evaluate an individual’s ability to perform a particular job.”

Shortly after the EEOC released its draft regulations we addressed this particular issue, among others, with a pair of GINA-related posts (see here and here). We considered whether there might be situations in which an employer could have a legitimate interest in testing an employee for a genetically-mediated condition, particularly where the employee’s activities might increase the risk or the severity of such condition becoming manifest during the course of employment.

The primary example we considered was that of professional basketball player Eddy Curry, who was traded by the Chicago Bulls after refusing to undergo a genetic test for Hypertrophic Cardiomyopathy (HCM).

As we wrote then:

Curry’s case is a very good example of a more general scenario that I suspect might pose a real problem once GINA takes effect. How will employers and employees handle situations in which an employer suspects that an employee is either suffering from, or at risk of, developing a medical condition with an identifiable genetic component? (In Curry’s case, it was the irregular heartbeat that created suspicion of HCM.) It would seem that, in most such cases, the employer will be forced to take action without a confirmatory genetic test.

The final regulations decline to create an exemption for this scenario and, indeed, it appears that if this case arose today, the Chicago Bulls might be prohibited from even requesting an HCM test. Although Curry did exhibit some physical symptoms, including an irregular heartbeat, the HCM test would arguably have been necessary to evaluate his ability to perform this particular job (that of a professional basketball player), particularly because the irregular heartbeat and other physical symptoms, on their own, may not have been enough for a conclusive diagnosis.

While the EEOC failed to find sufficient reason to create such an exemption, this situation is likely to appear in other contexts in coming years. While genetic information is primarily used to diagnose or guide treatment for manifest diseases or conditions, it is likely to play an increasing role in determining behavioral and lifestyle decisions—potentially including choice of employment—for conditions not yet manifest. Under GINA, however, except where an employer is required to do so by law, it may not “limit, segregate, or classify an individual…because of genetic information with respect to that individual.” There is no exception for imposing a limitation designed solely to protect the well-being of the employee.

As genetic information becomes more prevalent and more useful, we expect to see a growing tension between an employer’s legitimate interest in ensuring the welfare of its employees (for both economic reasons and out of a legitimate desire to protect its employees from harm) and GINA’s broad prohibition on requesting genetic information.

Employee Wellness Programs. One area where employers are already actively attempting to use genetic information—typically in the form of family medical history—to safeguard the health of their employees (and, in turn, decrease employers’ own healthcare costs) is employee wellness programs.

Increasing numbers of employers have implemented wellness programs, which frequently operate by assessing employees’ personal risk factors (including medical, environmental and behavioral) and encouraging the adoption of healthier lifestyles and practices. Many wellness programs include financial incentives (often in the form of premium discounts) for participation and/or completion.

Following GINA’s passage, and particularly the EEOC’s proposed regulations, many employers were concerned that such wellness programs might violate GINA. The proposed regulations permitted wellness programs only if they were offered on a “voluntary” basis (and if certain other conditions were met). Many commenters worried financial incentives or inducements would be deemed incompatible with the requirement of voluntariness.

In its final regulations, the EEOC has addressed this concern by clarifying the circumstances under which an employer may offer wellness programs that include a request for genetic information (including family history). In order for the wellness program to comply with GINA:

• the employee must provide a prior, knowing, voluntary and written authorization to participate in the program (electronic or online authorizations are allowed);
• individually identifiable genetic information may only be provided to the licensed health care professionals or board certified genetic counselors involved with the program;
• any genetic information received from the wellness provider must be in aggregate terms that do not disclose the identity of specific individuals; and
• employee incentives or benefits related to the program must not be conditioned upon the provision of genetic information.

Most notably, the EEOC determined that financial inducements for wellness programs are allowed, but only where the employer makes it crystal clear that neither participation in the wellness program nor the receipt of any benefit resulting from participation is conditioned upon the provision of genetic information.

What’s Next. Although GINA is now two and a half years old, like all new laws it remains subject to a considerable degree of uncertainty. Thus far, we are aware of only one publicly discussed EEOC claim filed under GINA (although EEOC’s legal counsel estimates “around 200 charges have been filed with EEOC under GINA so far“) and no court decisions interpreting the law. The EEOC’s final regulations are well-written and helpful but, ultimately, it will take years before we understand how GINA operates in practice.

When GINA was passed, Congress instructed the EEOC to issue final rules and regulations no later than May of 2009 describing how the agency intends to interpret and enforce the legislation. Although the EEOC missed that deadline by a full 18 months, the Commission did issue definitive rules and regulations (pdf) for Title II of GINA last week. (In its defense, the departments responsible for the Title I – Labor, Health and Human Services and the Treasury – have yet to issue final regulations of their own.) The regulations take effect January 10, 2011.

Reintroducing GINA. Last November, we reported that Title II of GINA had joined ranks with the other federal antidiscrimination laws (the Americans with Disabilities Act of 1990 (ADA), Title VII of the Civil Rights Act of 1964 (Title VII) and The Family and Medical Leave Act (FMLA), to name a few), to provide federal protection against workplace discrimination, in this case on the basis of genetic information. Title II of GINA prohibits the use of genetic information in the employment context, and also restricts employers from acquiring or disclosing genetic information.

The EEOC’s proposed regulations (pdf), issued last Spring, received 43 public comments during the 60-day comment period. In tomorrow’s post, we will take a closer look at the substance of GINA as interpreted by the EEOC’s final regulations, including some important ways in which the Commission revised the regulations to respond to commenters’ suggestions.

First, however, we provide a few reminders for employers who are looking ahead to 2011 and their first year with GINA.

A New Safe Harbor. One of the most helpful additions to the EEOC’s final regulations is the introduction of a new “safe harbor” provision to assist employers in complying with GINA’s general prohibitions against requesting or receiving “genetic information,” which includes information from genetic tests as well as family medical history information. The safe harbor (§ 1635.8(b)(I)(i)(B) of the regulations) provides that any genetic information received by an employer in response to a “lawful request for medical information” will be deemed “inadvertent and not in violation of GINA” if the request contains the following magic words:

The Genetic Information Nondiscrimination Act of 2008 (GINA) prohibits employers and other entities covered by GINA Title II from requesting or requiring genetic information of an individual or family member of the individual, except as specifically allowed by this law. To comply with this law, we are asking that you not provide any genetic information when responding to this request for medical information. “Genetic information” as defined by GINA, includes an individual’s family medical history, the results of an individual’s or family member’s genetic tests, the fact that an individual or an individual’s family member sought or received genetic services, and genetic information of a fetus carried by an individual or an individual’s family member or an embryo lawfully held by an individual or family member receiving assistive reproductive services.

Note that genetic information may still be received inadvertently even if this exact warning is not used. This important clarification was supplied by the EEOC in response to comments from small businesses and their representatives who were concerned that their information requests and corresponding informational warnings are often provided in oral form, not written.

Nonetheless, most employers will likely want to adopt the EEOC’s language to be sure they are availing themselves of the safe harbor any time they request medical information from an employee. Examples include an employer’s request for documentation in support of a request from an employee under a federal or state law such as the ADA (for a reasonable accommodation) or the FMLA (for a requested leave due to a medical condition).

A Familiar Look. Many other aspects of GINA’s Title II should look familiar to veteran employment lawyers and HR representatives, as the law and regulations incorporate many definitions and provisions from Title VII, the ADA and other federal antidiscrimination laws. For instance, like Title VII, “employee” includes former employees and job applicants, not just current employees. Similarly, while employers are required by GINA to keep genetic information in a confidential file separate from the rest of an employee’s file, the EEOC reminds employers that this requirement already exists under the ADA for employee medical data, and the EEOC clarifies that “GINA does not require that covered entities maintain a separate medical file for genetic information.”

The EEOC has also provided a workplace poster updated to include GINA and has committed to providing training and other compliance materials on its website. Indeed, so straightforward is GINA’s implementation in the EEOC’s eyes, that it estimates that “typical human resources professionals will need to dedicate, at most, three hours to gain a satisfactory understanding of the new requirements, either by attending an EEOC-sponsored event or reviewing the relevant materials on their own.”

No matter how many hours employers spend attempting to understand GINA and adapt to its requirements, here are a few actions that employers and their attorneys should be carefully considering in order to ensure they stay on GINA’s good side:

• Post all required EEOC notices advising employees of their rights to equal employment under GINA.
• Review handbooks and policy manuals, particularly social media policies, to ensure consistency with GINA’s requirements.
• Train managers and supervisors to comply with GINA, including ensuring that such individuals understand the limited ways in which they can inquire about an employee’s genetic information, including family medical history.
• Review all routine requests for medical information, particularly in the context of wellness programs, employee questionnaires, leave-of-absence forms and other similar documentation, to ensure that genetic information is not requested or reasonably likely to be disclosed. Add appropriate safe harbor language to such forms where appropriate.
• Review internal policies to ensure compliance with existing employment law (in addition to GINA) such as the ADA and FMLA, including separating personnel files from files containing any confidential medical or genetic information.
• Closely examine any policies or procedures that might result in a request, requirement or acquisition of genetic information and, if genetic information may be obtained by the company, ensure that such information, however acquired, is not used to take prohibited employment-related actions or disclosed in violation of GINA’s confidentiality provisions.

More Questions? At nearly thirty pages of three-column print in the Federal Register, the EEOC’s final regulations are a lot to process. Tomorrow we will take a closer look at the substance of the regulations, including some important changes between the draft regulations and the final regulations. In the meantime, the EEOC has published a helpful Q&A on its website. Although designed for small businesses, it is likely to be helpful for any employer seeking practical information about how to comply with Title II of GINA.

According to Ray, SACGHS members were notified this week that Secretary Sebelius and NIH Director Francis Collins had determined that “the major topics related to genetic and genomic technologies had been successfully addressed by the committee through its comprehensive reports and recommendations over the years” and, for that reason, the decision was made “to sunset the committee’s charter.”

A Decade of Discussion. The SACGHS was first established by HHS eight years ago (pdf) to “provide a forum for expert discussion and deliberation…on the range of complex and sensitive medical, ethical, legal and social issues raised by new technological developments in human genetics” and assist policymakers at HHS and other federal agencies in addressing those issues. The committee’s charter, which was last renewed in 2008 (pdf), includes “assessing how genetic technologies are being integrated into health care,” “examining current patent policy and licensing practices” and “analyzing uses of genetic information in education, employment, insurance…and law.”

Over the past eight years, as the range of genetic technologies and information has expanded dramatically, SACGHS has tackled all of these issues, along with many others. Some of the committee’s most significant undertakings included (1) repeated efforts to encourage the passage of the Genetic Information Nondiscrimination Act (GINA) (see here, here and here), (2) a 2008 report on the U.S. System of Oversight of Genetic Testing (pdf), (3) a 2010 report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests (pdf) and (4) a 2010 report on Direct-to-Consumer Genetic Testing (pdf).

Although advisory in nature, the committee’s activities have had a noticeable impact on genetic law and policy in recent years. While far from GINA’s only advocate, SACGHS’s continued support helped to ensure the law’s ultimate passage in 2008. The committee’s 2008 report on the regulation of genetic testing has been widely cited by lawmakers and policymakers, particularly those seeking to reform or extend the current system of oversight. Its 2010 gene patenting and licensing recommendations, along with coverage of the ongoing Myriad gene patent litigation, continues to spur public and private debate about whether and how to redesign the biotechnology patent regime. And its most recent report, on direct-to-consumer (DTC) genetic testing, while largely obscured by other contemporaneous developments within the DTC industry, may well serve as a roadmap for future industry oversight by the Food and Drug Administraton (FDA), Federal Trade Commission (FTC) and other regulatory bodies.

A Challenge for the Next Decade. The central role that SACGHS has played in analyzing the ever-expanding range of ethical, legal and social issues presented by genetic and genomic technologies, and in formulating policy suggestions to address those issues, makes the decision by Sebelius and Collins to disband SACGHS curious, to say the least. According to Ray, Collins was scheduled to provide a more complete explanation to the committee of “why he and [Secretary Sebelius] believe that the committee has accomplished its mission…” We hope that either Collins or Sebelius will choose to share their thinking more broadly.

No matter the rationale, it is clear that even those issues SACGHS investigated in detail have not been resolved with any meaningful degree of finality. GINA, while finally law, is still being implemented by regulatory agencies, and significant enforcement has yet to occur. Regulatory agencies have only recently begun to implement new policies (e.g., the NIH’s announcement that it is developing a voluntary Genetic Testing Registry and the FDA’s proposal to commence risk-based regulation of all laboratory-developed tests (LDTs)) designed to close the gaps in genetic testing oversight identified by SACGHS more than two years ago. The issues identified in the committee’s two most recent reports – on gene patents and DTC genetic testing – have yet to be meaningfully addressed by federal agencies, and represent some of the most contentious issues in genetics law and policy today.

What’s more, the pace of technological development is not slowing and it is difficult to see how anyone could suggest that SACGHS has sufficiently investigated all or even a majority of the important issues attendant to genetic technologies. Coming advances in genomic sequencing promise to make genetic data increasingly inexpensive and available, bringing to the fore new questions about genomic privacy, reproductive genetic technologies and access and affordability, along with many others, including crucial issues we cannot predict today. Indeed, SACGHS recently formed a task force to study the implications of whole-genome sequencing, although it is unclear whether the committee will have the opportunity to pursue that investigation to its conclusion.

In the eight years since SACGHS’s inception, we have seen significant scientific advances, and these have in turn produced an impressive range of associated ethical, legal and social issues. As we head into a second decade of increasingly personal genomic science and services, there is every reason to expect that as our technological capabilities expand, so too will the number and complexity of issues we are forced to address. Our challenge is to continue to develop legal and policy strategies that are reflective and not reactionary – strategies that ensure the safety of individuals while encouraging the innovation necessary to realize the promise of personalized medicine. We hope that the announced disbanding of this experienced and distinguished committee does not signal a declining commitment on the part of Secretary Sebelius or Director Collins to this challenge.

GINA, which was passed by Congress in 2008 and took effect last year, represents the most comprehensive effort to date to regulate the use of genetic information by employers (Title II) and health care insurers (Title I). Under Section 201(a)(i) of GINA, employers with more than 15 employees may not “discriminate against any employee with respect to the compensation, terms, conditions, or privileges of employment…because of genetic information.”

The Herald notes, and I agree, that this appears to be the first publicly disclosed, EEOC-filed genetic discrimination complaint since Title II of GINA went into effect last November. It is unlikely that we will see a complete copy of Fink’s complaint, and Fink’s employer has not yet offered its own version of the facts.* If the facts are as alleged, however, this would appear to be precisely the type of employer behavior that Congress sought to prohibit when it passed GINA to “…fully protect the public from discrimination…thereby allowing individuals to take advantage of genetic testing, technologies, research, and new therapies.”

As with all disputes, the most likely outcome here is a settlement, the terms of which will never see the light of day. Any other outcome might shed a first, important light on how the EEOC (and in the unlikely case of litigation, the judiciary) will apply GINA to actual workplace disputes. Either way, this is a reminder to employers and employees alike that GINA, after more than a decade spent languishing in Congress, is now the law.

* Update 4/29. An AP report quotes MXenergy company spokesman Todd Miller as “emphatically and categorically” denying Fink’s allegations, while declining to offer any further comment.

See more coverage of GINA and its implications from the Genomics Law Report here.

All of this may seem to have little direct relevance to companies outside of biotechnology. However, the development of genetic knowledge and technology already has spawned new laws, regulations and patent uncertainties that impact almost all businesses in some way.

Privacy and Nondiscrimination. The federal Genetic Information Nondiscrimination Act of 2008 (GINA) represents the most comprehensive effort to date to regulate the use of genetic information. GINA initially only prohibited health insurers and group health plans from using genetic information to deny coverage or set payment rates. Another section, which just became effective in November 2009, affects all private and public employers with more than 15 employees.

GINA now prohibits discrimination against all employees and job applicants based on genetic information, prohibits the use of genetic information in making employment decisions, and strictly limits employer disclosure of genetic information. The EEOC anti-discrimination poster that is required to be displayed by all employers has been updated to include GINA.

A potential compliance trap in GINA is that it also restricts the collection of genetic information by employers. Genetic information includes not only actual genetic test results, but also family medical history that might show links to inheritable diseases. This has raised particular concern around wellness programs, and there is a limited regulatory exception for such employer programs if offered on a voluntary basis and if other specific requirements are met. The regulations are new and there is not yet any substantial enforcement history, so employers should exercise great caution in this area.

Health Care and Research. Health care providers are already very familiar with the Health Insurance Portability and Accountability Act (HIPAA) requirements of strict privacy protections for “individually identifiable health information,” which includes genetic information.

Medical researchers who work with genetic information are often subject to HIPAA and must also comply with the federal “Common Rule” which regulates human subject research. Genetic information has presented some unique regulatory issues for researchers because it can be more difficult to “de-identify” than other health information and it raises complex issues around obtaining the required informed consent of subjects.

Intellectual Property. Fundamental questions are currently unresolved concerning the protection of genetic-related intellectual property – especially patents. The legal and policy arguments about gene patents can be quickly summarized. On one hand, human genes can be considered “products of nature” which by law cannot be patented, and there also may be a basic moral objection to any individual or firm obtaining a patent (which is a legal monopoly) on a human gene. On the other hand, the Patent Office and courts have long allowed patents on genes that are isolated from their natural environment in the body. Gene patent advocates argue that no company will have the necessary economic incentive to develop lifesaving tests and treatments if the intellectual property the company creates—including isolated genes–cannot be protected.

The issue of whether isolated genes are patentable is before the federal courts in the Myriad case, which was organized by the ACLU to challenge Myriad Pharmaceutical’s patents on certain breast cancer susceptibility genes. On March 29, 2010 a US District Court granted summary judgment in favor of the ACLU side and invalidated the Myriad patents. This ruling will be appealed to the federal appeals court and the legal battle will continue, perhaps to the Supreme Court. A final ruling is still years away.

Meanwhile, there are other patent cases in the federal courts that may affect a number of businesses, including biotechnology. The Bilski case is at the Supreme Court and deals with the patentability of business methods – specifically, a method of hedging commodities risks. The decision in Bilski may have far-reaching consequences for patents on methods of analysis, data interpretation, and performing certain tasks.

On the regulatory side, an advisory committee to the Department of Health and Human Services has approved recommendations on gene patenting and licensing that have generated heated debate. Stay tuned to see if Congress can long avoid jumping in with new laws that will affect genetics-related intellectual property rights.

Editor’s Note: A slightly modified version of this column appeared last Friday in the Charlotte Business Journal.

For better or worse, that’s where the instructions ended. The invited contributors identified the ELSI of their choice and discussed (or not) their rationale for so selecting as they saw fit. In addition to refraining from substantive editing, we intentionally avoided coordinating commentaries. Although we encouraged independent submissions from a variety of contributors and deprived them of any advance knowledge of what others in the series would say, one of our hopes was that consensus would begin to form around certain key ethical, legal and social issues.

To some degree this occurred. In collecting the series for the convenience of readers who would like to have all of the contributions in one place (pdf), we have ultimately settled on six broad topic headings for the commentaries, which are preceded by Jason Bobe’s call to arms for a new generation of “genomic astronauts.” It’s Mine! focuses on the privacy, ownership and access questions that continue to swirl around genomic information. Personalized Medicine in the Real World is wide-ranging, with commentaries that examine existing societal, scientific and governmental barriers to the implementation of personalized medicine, and several that propose specific solutions designed to eliminate certain of those barriers. In Too Much Information, the commentaries return to data and consider how individuals, clinicians, researchers and, ultimately, society will assimilate the coming deluge of personal genomic information. Back to School features several commentaries that make the case that improved educational models are the key to realizing the potential of genomics and personalized medicine. The commentaries in No _______ Need Apply focus on one of the most oft-discussed risks associated with personal genomic information―genetic discrimination. Finally, our commentators take a look to the future in Testing the Limits?, examining issues of genetic testing, modification and exceptionalism.

Although we have presented the series using these broad headings, as we undertook the task of gathering the commentaries and attempted to identify cross-cutting themes and trends, we came to appreciate even more the value of the series. That is, the commentaries simply do not fit into neat boxes. That was probably to be expected, given the variety and thoughtfulness of our contributors and the breadth and uncertainty that continues to surround the fields of genomics and personalized medicine.

Despite our organizational efforts, each of our contributors could easily have his or her own topic heading. And more than anything else, the diversity of ideas and opinions expressed in What ELSI is New? is its most significant contribution. After all, our other hope for the series was that the broad range of contributors would hold up seemingly familiar issues in new lights and see new connections. They sure did.

Dan Vorhaus

Editor, Genomics Law Report

December 2009

For all the attention that GINA has achieved, many Americans will soon learn of its existence for the first time in break rooms and at water coolers across the country, courtesy of the Equal Employment Opportunity Commission’s (EEOC) new workplace poster (pdf). The poster is required to be displayed by all employers covered by federal anti-discrimination laws.