July 1997 Congressional Task Force: Health Records and Genetic Privacy

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Congressional Task Force on Health Records and
Genetic Privacy Preventing Genetic Discrimination
in Health Insurance

Department of Health and Human Services
National Institutes of Health
Statement of
Francis S. Collins, M.D., Ph.D.
Director, National Human Genome Research Institute
July 22, 1997

Congressman Stearns, Congressman Green and Members of the Subcommittee:

I thank you for holding this meeting on this important topic today and for your interest in moving forward legislation to address the issues relating to genetic discrimination. I am pleased to discuss recent advances in genetic research, the applications to clinical practice they may present, and the public policy challenges they pose. The National Human Genome Research Institute (NHGRI) is looking ahead to the completion of the Human Genome Project (HGP) (on time and under budget) and playing a leading role in 21st-century health science based on understanding the instructions encoded in our DNA. Genetic analysis is important to biomedical research because nearly every disease has a genetic component, and understanding disease at the genetic level in many instances gives us the best hope for preventing, treating or curing it.

Technology development in genetic analysis has received a tremendous boost from the HGP, the international research program launched about seven years ago to develop technologies that make finding genes easier, faster and cheaper. NHGRI, part of the National Institutes of Health (NIH), and the U.S. Department of Energy (DOE) carry out the HGP in the United States. One of the goals of the HGP is to produce new technologies for the characterization of the 3 billion nucleotide bases that make up the human genome. Analysis of the genomes of several important model organisms are also included in the project's goals.

Briefly, the products of the HGP include genetic maps with closely spaced molecular markers throughout the human genome, physical maps consisting of sets of contiguous, cloned DNA spanning the entirety of each human chromosome, computer methods for easy data storage, retrieval and manipulation, and ultimately, the complete nucleotide sequence of the human genome. Its first goal, creating a detailed genetic map for the human genome, has already been accomplished. The second goal, a comprehensive physical map of the human genome, is over 98 percent completed -- well ahead of the 1998 anticipated date of completion. The project thus far has been successful in meeting or exceeding the goals outlined in its original plan.

These accomplishments have set the stage for the project's ultimate goal, sequencing all the DNA in the human genome by 2005. To accomplish this goal, the NHGRI has increased its investment in the development of new technology for DNA sequencing, concentrating on improving speed and lowering cost. Progress in these projects has been remarkable and last year, the NHGRI expanded its investment in DNA sequencing research by initiating pilot projects to address and resolve issues that will be confronted in large-scale sequencing of human DNA. These pilot projects have already generated about 50 million base pairs of human DNA sequence, and are developing and testing the methods that will be used in the determination of the complete human DNA sequence.

With the prospect of completing the human DNA sequence early in the next century, we are eager to begin the translation and interpretation of this information. The HGP is producing detailed information about the chemical structure and organization of human DNA -- the order (sequence) of its three billion bases and the location of the approximately 80,000 genes it contains. However, the structural information that will result from the Project is only the beginning of biological interpretation. We will still face the challenge of understanding what the "instructions" encoded in human DNA mean; in other words, how the genes actually function.

The impact on the future of biology of knowing the order of all 3 billion human DNA bases has been compared to Mendeleev's establishment of the Periodic Table of the Elements in the 19th century and the advances in chemistry that followed. The complete set of human genes -- the biologic periodic table -- will make it possible to begin to understand how they function and interact. Rapidly evolving technologies, comparable to those used in the semi-conductor industry, will allow scientists to build detectors that trace hundreds or thousands of these gene signatures in a single experiment. Scientists will use the powerful new tools to reveal the secrets of disease susceptibility, create broad new opportunities for preventive medicine, and provide unprecedented information about the origin and migration of human populations.

Already as a result of the HGP technologies, new genes that are associated with diseases are discovered almost weekly. A recent example is the precise identification, by scientists at the NHGRI, of a gene abnormality that causes some cases of Parkinson's disease. Parkinson's disease, a common progressive neurological disorder that results from loss of nerve cells in a region of the brain that controls movement, afflicts about 500,000 people in the United States alone, with about 50,000 new cases reported every year. The gene, identified by NHGRI researchers, spells out instructions for a protein called alpha synuclein. Because the normal gene plays a role in the function of nerve cells, the finding gives researchers a powerful new tool for understanding cellular abnormalities in Parkinson's disease and demonstrates a connection between Parkinson's disease research and research into other neurological disorders, such as Alzheimer's disease. Until this discovery, most experts believed that Parkinson's disease was probably due to unknown factors present in the environment. The identity of this gene may ultimately help us prevent or delay the cell death that is responsible for some forms of degenerative brain disease.

Once a disease gene, such as Parkinson's disease gene, is identified it is often only a matter of months before a diagnostic test can be made available. Genetic tests can identify DNA alterations in people who have already developed a disease, in healthy persons who may be at risk of developing a genetic disorder later in life, or in people who are at risk of having a child with an inherited disorder. In some instances the development of accurate diagnostic technologies can be potentially life-saving. Genetic tests for glaucoma, colon cancer, inherited kidney cancer, and other disorders are already helping to identify high-risk individuals before they become ill, allowing potential life-saving interventions. Today, genetic tests are available primarily in academic medical centers for some 450 disorders, most of which are rare. But over the next decade, genetic testing will become ever more commonplace throughout the health care system, and will be applied to increasingly common disorders.

As our technology grows in genetic testing, more information will be made available to concerned individuals about their potential for developing certain conditions. While potentially providing enormous benefit by allowing individualized programs of preventive medicine, the increased availability of genetic information raises concerns about who will have access to this potentially powerful information. Each of us has an estimated five to 30 serious misspellings or alterations in our DNA; thus, we could all be targets for discrimination based on our genes. Of particular concern is the fear of losing jobs or health insurance because of a genetic predisposition to a particular disease. For example, a woman who carries a genetic alteration associated with breast cancer, and who has close relatives with the disease, has an increased risk of developing breast and ovarian cancer. Knowledge of this genetic status can enable women in high-risk families, together with their health care providers, to better tailor surveillance and prevention strategies. However, because of a concern that she or her children may not be able to obtain or change health insurance coverage in the future, a woman currently in this situation may avoid or delay genetic testing.

These are real concerns for too many Americans. In a recent survey of people in families with genetic disorders, 22 percent indicated they, or a member of their family, had been refused health insurance on the basis of their genetic information. The overwhelming majority of those surveyed felt that health insurers should not have access to genetic information. A 1995 Harris poll of the general public found a similar level of concern. Over 85 percent of those surveyed indicated they were very concerned or somewhat concerned that insurers or employers might have access to and use genetic information.

Discrimination in health insurance, and the fear of potential discrimination, threaten both society's ability to use new genetic technologies to improve human health and the ability to conduct the very research we need to understand, treat and prevent genetic disease.

To unravel the basis of complex disorders, scientists must analyze the DNA of many hundreds of people for each disease they study. Thus valid research on complex disorders will require the participation of large numbers of volunteers. But a pall of mistrust hangs over research programs because study volunteers are concerned that their genetic information will be used by insurers to discriminate against them. For example, in genetic testing studies at the NIH, nearly one third of eligible people offered a test for breast cancer risk decline to take it. The overwhelming majority of those who refuse cite concerns about health insurance discrimination and loss of privacy as the reason.

NHGRI has established productive partnerships among consumers, scientists and policy makers to help reduce the possibility that genetic information will be used to harm an individual or family members. As an integral part of the HGP, the NHGRI and the DOE have each set aside a portion of their funding to anticipate, analyze and address the ethical, legal and social implications (ELSI) of the project's new advances in human genetics. The current goals of the ELSI program are to improve the understanding of these issues through research and education, to stimulate informed public discussion, and to develop policy options intended to ensure that genetic information is used for the benefit of individuals and society.

In 1995, the National Action Plan on Breast Cancer (NAPBC, coordinated by the US Public Health Service Office on Women's Health) and the NIH-DOE Working Group on Ethical, Legal and Social Implications of Human Genome Research (ELSI Working Group) tackled the issue of genetic discrimination and health insurance. This effort built on the ELSI Working Group's long standing interest in the privacy and fair use of genetic information and the NAPBC's mandate to address priority issues related to breast cancer.

Today, 19 states have enacted laws to restrict the use of genetic information in health insurance. Since January of this year, at least 31 states have introduced legislation to prohibit genetic discrimination in insurance, which is a positive indication of the level of concern about this important issue. Despite the initiatives of various states to pass legislation aimed at protecting individuals from being denied health insurance based on their genetic status, we have at best a patchwork of privacy and anti-discrimination proposals. In addition, state laws do not provide protection for the approximately 125 million Americans who obtain their health insurance coverage through private sector, employer sponsored, self-funded plans, because the federal Employee Retirement Income Security Act (ERISA) exempts the administration of these plans from state oversight. Therefore, the state legislative approach does not provide a comprehensive solution to genetic discrimination in health insurance.

In 1996, Congress enacted a law, called the Health Insurance Portability and Accountability Act (HIPAA), which took a significant step toward expanding access to health insurance. But HIPAA doesn't go far enough. Americans are still largely unprotected by federal law against insurance rate hikes based on genetic information and against unauthorized people or institutions having access to the genetic information contained in their medical records. HIPAA includes genetic information among the factors that may not be used to deny or limit insurance coverage for members of a group plan. Further, HIPAA explicitly excludes genetic information from being considered a preexisting condition in the absence of a diagnosis of the condition related to such information. The law specifically uses the broad, inclusive definition of genetic information recommended by the NAPBC-ELSI Working Group. Finally, HIPAA prohibits insurers from charging one individual a higher premium than any other "similarly situated" individual in the group.

These steps towards preventing discrimination based on genetics are significant, but HIPAA left several serious gaps that can now be closed by Administration-supported legislation. First, the protections in HIPAA do not extend to the individual health insurance market. Thus, individuals seeking coverage outside of the group market may still be denied access to coverage and may be charged exorbitant premiums based on genetic information. While only approximately 5 percent of Americans obtain health insurance outside the group market today, many of us will, at some point in our lifetime, purchase individual health insurance coverage. Because genetic information persists for a lifetime and may be transmitted through generations, people who are now in group plans are concerned about whether information about their genes may, at some point later in their life, disallow them from being able to purchase health insurance outside of the group market.

Second, while HIPAA prohibits insurers from treating individuals within a group differently from one another, it leaves open the possibility that all individuals within a group could be charged a higher premium based on the genetic information of one or more members of the group.

Finally, HIPAA does nothing to limit an insurer's access to or release of genetic information. No federal law prohibits an insurer from demanding access to genetic information contained in medical records or family history or requiring that an individual submit to a genetic test. In fact, an insurer can demand that an individual undergo genetic testing as a condition of coverage. Further, there are no restrictions on an insurers' release of genetic information to others. For example, at present, an insurer may release genetic information, and other health-related information, to the Medical Information Bureau which makes information available to other insurers who can then use it to discriminate. Because genetic information is personal, powerful and potentially predictive, it can be used to stigmatize and discriminate against people. Genetic information must be private.

On July 14, 1997, the President embraced the importance of improving federal protections against genetic discrimination and supported legislation that "will ban all health plans, group and individual, from denying coverage or from raising premiums on the basis of genetic tests." The Administration recommends that this law build on the effort begun under HIPAA and encompass the NAPBC-ELSI Working Group's recommendations that seek to prevent health insurers from having access to genetic information, from being able to misuse this information, and from disclosing genetic information to others. The specific recommendations underlying the legislation are included in the HHS Report: Health Insurance in the Age of Genetics.

The legislation will extend protections in three important ways. One, ensure that Americans in the individual market are not denied access to or lose health care coverage, in the absence of a diagnosis, because of genetic information. Two, ensure that health plans do not use genetic information per se to determine premiums. And three, impose restrictions on the disclosure of genetic information to other insurers, plan sponsors and other entities regulated by state insurance laws such as life, disability and long-term care insurers.

I find it rewarding and am astounded by the strides human genome research has made and the unprecedented opportunities it offers biomedical science to improve the lives of people in this country and around the world. In order to assure that the Nation benefits from the fruits of genetic research, safeguards must be in place to protect individual privacy and prevent insurance discrimination. We have the unique opportunity to ensure that our social policy keeps pace with the scientific advances made possible through biomedical research. The American people, the President, and the Congress support protections against genetic discrimination in health insurance. Supporting the recommendations in the Report could ensure that increasing knowledge about ourselves and our genetic heritage is used to benefit Americans, to improve their health and well-being, and not to stigmatize or discriminate against them. The public will benefit from genetic research advances only if personal genetic information is secure from misuse by insurance companies and other social institutions.

I would like to thank you for bringing this issue the attention it needs and deserves today. I am pleased that so many members, both Republican and Democrat, have expressed interest in moving forward legislation on this important issue. Representative Slaughter and Senator Snowe have introduced legislation that has been endorsed by over one hundred members of Congress. The Administration would like to build on the principles of this legislation. Also, I am pleased that last week Senator Jeffords and Senator Frist expressed their interest in moving bipartisan legislation that addresses the issues in the HHS Report. I want to thank you for your longstanding efforts and look forward to working with you to pass bipartisan legislation on this issue this year.

This concludes my remarks. I would be pleased to answer any questions you may have.

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Last Updated: March 16, 2012