Genetic Non-Discrimination

Policy Considerations in the Age of Genetic Medicine

Report addresses uncertainties that need consideration as genetic medicine gets increasingly personal and the Senate considers genetic non-discrimination legislation.

There are many uncertainties to consider as genetic medicine gets increasingly personal. Above: human chromosomes. (NHGRI)
There are many uncertainties to consider as genetic medicine gets increasingly personal. Above: human chromosomes. (NHGRI)

Read the full report (pdf)

Read an update on GINA legislation (Science Progress)

GINA passes! (Science Progress)

The world stands on the brink of a genome-based personalized-medicine revolution, with individual Americans poised to be the greatest beneficiaries. An international research consortium that includes our country’s National Human Genome Research Institute recently announced its $50 million plan to sequence the genomes of at least 1,000 individuals from around the world. According to NHGHRI Director Francis Collins, this project will increase the sensitivity of disease discovery efforts across the human genome five-fold, and within gene regions (the portions of a chromosome on which a particular gene is located) at least 10-fold.

What’s more, Harvard University geneticist George Church has also embarked on the even more ambitious “Personal Genome Project.” He aims to sequence 100,000 genomes at a cost of about $1 billion, and possibly expand the project until it reaches 1 million sequenced genomes.

For individual Americans, this growth of genomic data means more accurate personal genetic information will become available to them, their physicians and, yes, their insurance companies, to make perhaps monumental health care decisions. This new information could well be a blessing or a curse, depending on how it is handled by patients, their doctors and their insurers. That’s why legislation based on the best bioethical principles needs to be enacted by Congress this year. Genetic testing will become increasingly more accurate as more research is done.

But more importantly, in the meantime many genetic tests remain highly inaccurate. The results of genetic testing today are hardly reliable, yet they are already part of the medical marketplace. Congress’s failure to enact federal genetic testing laws is one reason for this problem. A U.S. Department of Health and Human Services panel estimates that over the past decade over 1,100 genetic tests have become available. The website GeneTests reports that there are currently 1,546 diseases for which testing are available (see graph on page 2). However, some of these are only research tests; the number of clinical tests that are available is 1,258. But until recently most tests were for very rare conditions. That percentage is beginning to rise, however, as genetic variants are being identified that increase risk for common complex diseases such as diabetes, cardiovascular disease and macular degeneration.

This sudden deluge of diagnostic information may cause great uncertainty, fear, and misunderstanding for average patients who, even now, do not know how to interpret and make use of their genetic information. Physicians also find themselves somewhat perplexed as they now have to integrate genetic information into their evaluations and diagnoses of patients. This uncertainty arises because some genetic tests provide patients, physicians, and insurers with mathematical probabilities of disease that are seemingly much more precise than simple knowledge of family medical history.

Moreover, the preventative measures that may lead from genetic diagnoses will present new challenges to both patients and healthcare providers. Yet patients and healthcare providers will need to remain mindful of the fact that genes are not destiny; they will need to carefully weigh other clinical observations before taking drastic measures such as removing a body part that has a probability of one day becoming cancerous.

All these new medical dilemmas, however, are predicated on the assumption that patients will feel comfortable and safe having testing done and sharing it with their healthcare providers. The main reason patients would want to keep their genetic information private—or not even have the test in the first place—is fear of being discriminated against by employers or insurance companies. According to a 2007 survey by the Genetics and Public Policy Center, 93 percent of respondents thought that employers should not have access to their genetic test results, and the same percentage thought insurers should not have access.

This fear of discrimination could lead to an under-utilization of genetic tests by patients, which would ultimately hurt employers and insurers, too, since patients will not be able to take preventative measures that could eliminate the need for expensive care, medical leaves, and sick days down the road. Although current state and federal laws do provide patients with some protection from genetic discrimination, they still remain inadequate and vague.

For instance, as of 1996, the Health Insurance Portability and Accountability Act, or HIPAA, prohibited group health insurers from using health-related information in making coverage decisions or setting premiums for an individual who is part of a group plan; and the Act specifically lists genetic information as such. Additionally, HIPAA states that genetic information in the absence of a diagnosis cannot be considered a preexisting condition.

There are also some provisions in the Social Security Act, the Americans with Disabilities Act, and the Civil Rights Act that could apply to genetic information but do not mention genetic information explicitly. A patchwork of state laws regarding privacy, employment, and insurance practices also exist, with many state laws explicitly mentioning genetic information but all of them offering different levels and forms of protection.

Federal policies that could be put in place by the proposed Genetic Information Nondiscrimination Act, or GINA (S. 358), now before Congress would further prevent discrimination by extending protections to holders of individual insurance plans, and would protect whole groups of insured people from being discriminated against based on the genetic information of some of the individuals in that group. The GINA legislation would also create a policy that protects individuals from discrimination by employers.

This legislation has broad support from legislators on both sides of the political aisle, but has yet to be enacted into law. Versions of GINA passed in the Senate in 2003 and 2005, but a version did not pass in the House until 2007. Now the Senate has yet to pass the 2007 version. This is because a group of Senators have placed a “hold” on the legislation. The possible objections that these Senators might have to the bill are most likely in line with the objections raised by groups such as the U.S. Chamber of Commerce, which feels that the existing state and federal protections are sufficient and that federal legislation would open insurance companies up to unnecessary lawsuits. Another objection might be similar to the one expressed in the Bush administration’s statement that there is not a significant “firewall” between Title I of the bill, which deals with insurance, and Title II, which deals with employers.

Interestingly, the text of GINA was attached to the Paul Wellstone Mental Health and Addiction Equity Act (H.R.1424), which passed the House last month by a wide 268-to-148 margin. But the Senate version of the Mental Health bill (S. 558), which passed in September, does not contain the text of GINA. Unfortunately, the GINA language does not have a good chance of being included in the final version of the Mental Health bill that would emerge from a House-Senate conference committee.

In fact, the Mental Health bill does not even have a good chance of going to conference to begin with because many Senators feel that the House version of the bill is too broad and would ruin the careful compromise worked out on the Senate version. These Senators include Sen. Edward Kennedy (D-MA) whose son, Rep. Patrick Kennedy (D-RI) authored the House version of the Mental Health bill. Therefore, the best option for getting GINA passed would be for Senate Majority Leader Harry Reid (D-NV) to override the hold by securing the 60 votes needed so that the stand-alone Senate version of the GINA bill (S.358) can pass.

Opponents of GINA fear it will make employers vulnerable to frivolous lawsuits based on allegations of genetic discrimination, and that the new legislation will not be able keep up with further fast-moving scientific developments in the field of genetic testing that naturally outpace legislative action. Yet the influence of further scientific developments on possible genetic discrimination relies on the accuracy and significance of new genetic tests as they arise. Fear and uncertainty about the quality of genetic testing is bound to become more and more acute, especially as the cost of genetic sequencing comes down and low regulatory barriers to market entry encourages more new genetic-testing companies to jump into the marketplace (see graph above).

In fact, the genetic-test industry is growing at a breakneck pace. New entrant 23andMe, Inc. offers to decode 500,000 points on a customer’s genome for $1,000. DNADirect, Inc., offers 17 condition-specific tests of varying cost directly to the consumer. Knome, Inc. will sequence a customer’s entire genome for $350,000. And Sciona, Inc., sells “nutrigenetic tests” that claim to help consumers with diet and nutrition recommendations based on their genes. The proliferation of these new tests means that consumers will have direct access to much of their genetic information without their personal physician acting as a gatekeeper to review, interpret, or contextualize that information for them.

Once again, there are currently only a patchwork of state and federal regulations regarding the quality and parameters of genetic testing. These rules were enacted in response to the condition-specific genetic tests that have entered the market over the last decade. Tests are overseen by a variety of regulators. The Food and Drug Administration regulates the testing kits. The Federal Trade Commission regulates the labeling and advertising of genetic test kits. And the Centers for Medicare and Medicaid Services regulates labs under the authority of the Clinical Laboratory Improvement Amendments Act of 1988.

Falling through the cracks in this system, however, are labs that develop their own genetic tests and offer testing as a service. In 2000, the Centers for Medicare and Medicaid Services announced that it would create a new set of protocols in order to better regulate genetic testing. CMS then did nothing for six years until it announced in April 2006 that the Department of Health and Human Services put the creation of new genetic testing rules on its regulatory agenda with the aim of having new regulations in place by November of that year—only to renege on that promise in July of 2006.

It was not until November 5, 2007 that the HHS Secretary’s Advisory Committee on Genetics, Health, and Soci- ety released a draft of their report on the oversight of genetic testing. The SACGHS report was left open for comments until December 21, 2007 and will be released by the end of April 2008. One of the major recommendations that the SACGHS report will include is the creation of a registry for genetic tests. This registry could be housed at a federal agency or possibly at GeneTests, a National Institutes of Health-funded research center at the University of Washington-Seattle. Senate bill 976 also includes a similar provision.

Underpinning all of the concerns regarding the proper regulation of genetic tests and genetic privacy are key bioethical principles. For genetic testing, these principles protect the right of individuals to keep their genetic information private, underline the obligation of testing service-providers and physicians to actively prevent harm from befalling the patient through faulty tests or unsound recommendations based on tests, and ensure policies are in place so that individuals will not be discriminated against in employment or insurance. (See sidebar on page 10 for a detailed examination of the role of bioethics in genetic testing.)

GINA addresses many of these bioethical principles by specifying privacy protections and bans on discrimination. Our society needs to accommodate the rush of genetic information that is just over the horizon in a way that conforms to our firmly held moral values. If we fail to anticipate and plan for the implications of these developments, then the benefits will be denied to millions of Americans. GINA provides a coherent and timely public policy framework for the genetic medicine of the 21st century.

Presuming Congress passes this legislation—still a big “if” depending on whether the Senate is too busy to generate enough votes to override the hold— then regulators will be armed with many of the legal tools they need to address these issues. The next steps to take will be for members and regulators alike to delve into the complexities and the business hype of genetic tests. This paper addresses both of these issues in turn.

Read the full report (pdf)

Read an update on GINA legislation (Science Progress)

GINA passes! (Science Progress)

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Jonathan D. Moreno

Senior Fellow