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Testimony on Preventing Genetic Discrimination in Health Insurance by Francis S. Collins, M.D., Ph.D.
Director, National Human Genome Research Institute
National Institutes of Health
U.S. Department of Health and Human Services

Before the Senate Committee on Labor and Human Resources
May 21, 1998

Chairman Jeffords, Senator Kennedy and Members of the Committee:

As many of you know, I am Dr. Francis Collins, Director of the National Human Genome Research Institute. I am accompanied today by Gary Claxton, Deputy Assistant Secretary for Planning and Evaluation, at HHS.

I thank you for holding this hearing on this important topic today and for your interest in moving forward legislation to address the issues relating to genetic discrimination in health insurance. Now at the half-way mark, progress in the 15-year Human Genome Project and its impact on health research has surpassed the most ambitious expectations. I am pleased to discuss the Project, the recent advances in genetic research, the applications to clinical practice they may present, and the ethical, legal, and social issues they raise.

A major goal of the international Human Genome Project is to spell out, letter by letter, all 3 billion bases in the human genome by the year 2005. Since the start of the Human Genome Project, scientists have been experimenting with whole-genome sequencing methods on smaller, less complex organisms. The full DNA sequence of the bacterium E. coli, and the sequence of yeast have been completed. By the end of the year, the sequence of the round worm, C. elegans will be completed. Work with these "model organisms" has been valuable for developing, testing, and refining approaches to large scale sequencing. Model organisms also are enormously valuable for understanding biology and medicine. For example, recent breakthrough advances in understanding hereditary factors in colon cancer were greatly facilitated by prior research on DNA repair pathways in bacteria and yeast.

In 1996, NHGRI began pilot projects to test strategies and technologies for full-scale sequencing of the human genome, which contains about 1,000 times more DNA than E. coli does. We now have begun sequencing in earnest. As a result, investigators have deposited almost 120 million bases of high-quality human DNA sequence in GenBank that meets the agreed-upon standards of the international genomic community.

In order to meet those standards, the sequence produced must have four characteristics-the "4 A's" of the Human Genome Project -- 1) the sequence must be accurate, that is, the DNA spellings must be correct. The sequencing network will include quality assurance labs to ensure accuracy of 99.99 percent or better. 2) the sequence must be assembled. Large-scale sequencing relies on the accurate assembly of smaller lengths of sequenced DNA into longer, genomic-scale pieces, so DNA coming from the NHGRI network will be assembled into long pieces that reflect the original genomic DNA. 3) Because human DNA sequence must also be affordable, a portion of the network will focus on technology development to reduce cost as must as possible. 4) Finally, high-quality, finished human DNA sequence must be accessible. In order to be useful, sequence data needs to be available to the entire research community, so NHGRI has introduced policies to make sequences accessible within 24 hours through public databases.

The Human Genome Project is unique among most biological research efforts in its establishment of specific, goal-oriented research plans. The current plan expires in October, 1998, so NHGRI is in the midst of a vigorous discussion with its scientific advisors to establish a research plan to cover the next five years. The new plan will include:

  • A specific path toward completion of the first full human DNA sequence;
  • Development of improved sequencing technologies for the future;
  • A bold new goal to catalog sequence variation and its relationship to disease;
  • Expanded efforts to characterize the genomes of mouse and other model organisms;
  • Identifying and analyzing the function of genes in the human genome;
  • Accelerating progress in computational biology;
  • Increased training opportunities; and
  • Continuing studies of the ethical, legal, and social implications (ELSI) of new genetic technologies.

With mapping finished, sequencing underway, and the prospect of completing the human DNA sequence early in the next century, we already have begun the translation and interpretation of this information. The HGP is producing detailed information about the location of the approximately 80,000 genes contained in human DNA. However, knowing the location and sequence 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 analyze tens of thousands of genes in a single experiment. Scientists will use the powerful new tools to reveal the secrets of disease susceptibility. This knowledge will in turn allow researchers to create broad new opportunities for preventive medicine, lay the foundation needed to develop and better target effective therapeutics, and provide unprecedented information about the origin and migration of human populations.

Gene Discovery

Today, with Human Genome Project tools, it is possible to track down a disease-related gene even when nothing is known about the biochemical problems of the disease or how the gene works. This technique, based on identifying the position of a gene in the chromosome and then isolating it, is commonly referred to as positional cloning and was successfully used for the first time in 1986. Now, the increasing detail and quality of genome maps have reduced the time it takes to find a disease gene from years, to months, to weeks, to sometimes just days, and scientists are using the tools to discover dozens of disease genes each year. Increasingly, gene hunters are combining positional cloning techniques with a new "gene map" to make gene finding even easier and quicker. Constructed largely by scientists at NHGRI-supported research centers and the National Library of Medicine in collaboration with international colleagues, the map has doubled in its detail since the first version was released two years ago. It now contains 30,262 gene tags, which may represent nearly half of all human genes. Disease-gene hunters now have about a 50 percent chance they will find an already characterized gene waiting for them in the chromosomal neighborhood they know is involved in a disease.

The isolation of a gene for Parkinson's disease (PD) last year demonstrated the power of this new discovery method and showed conclusively that changes in DNA can cause PD in some families. Only two years ago, the National Institute of Neurological Disorders and Stroke held a workshop to explore using genetic approaches to understand PD. A team led by scientists in NHGRI's Division of Intramural Research (DIR) began large-scale genetic analysis of DNA from members of a large Italian family containing almost 600 people, more than 60 of whom have been diagnosed with Parkinson's. In nine days, NHGRI gene hunters mapped the gene to a region of chromosome 4, which contained approximately 100 genes. One of the several genes in that interval which had already been identified on the gene map and was known to encode a protein called alpha-synuclein. That gene was an excellent candidate for a Parkinson's disease gene because earlier research had already shown the protein builds up in brain cells of people with Alzheimer's disease, and people with PD have similar deposits.

In just a few months, the researchers showed conclusively that an altered alpha-synuclein gene caused Parkinson's disease in the study families. Many have hailed this as the most significant advance in Parkinson's disease research in 30 years. Just last month, a Japanese research team used genome mapping tools to isolate another gene, this time on chromosome 6, that also appears to contain a gene that when altered, predisposes the individual to a rare juvenile form of Parkinson's disease.

Because the normal genes are involved in the function of nerve cells, these findings give researchers powerful new information for understanding cellular abnormalities in Parkinson's disease and demonstrate a connection between Parkinson's disease research and research into other neurological disorders, such as Alzheimer's disease. Until these discoveries, most experts believed that Parkinson's disease was probably due to unknown factors present in the environment. Understanding these susceptibility genes may ultimately help us prevent or delay the cell death that is responsible for some forms of degenerative brain disease.

Genetic Tests

Once a disease gene, such as the 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 over 500 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.

Genetic Information

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 and how it will be used. Each of us has an estimated 5 to 50 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 (BRCA1, BRCA2), 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 a test that would reveal her genetic status. A 1995 Harris poll of the general public found a high 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. In a subsequent national telephone survey in 1997 of more than 1,000 people, 63 percent of participants reported that they would not take genetic tests for diseases if health insurers or employers could get access to the results.

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 research 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 and ensure that it will be of benefit to both patients and providers. As an integral part of the Human Genome Project, 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. Because genetic information is personal, powerful, and potentially predictive, it can be used to stigmatize and discriminate against people. Genetic information must be private.

Health Insurance

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.

On May 18, 1997, President Clinton, in his commencement address at Morgan State University, urged passage of "bipartisan legislation to prohibit insurance companies from using genetic information to determine the premium rate or eligibility of Americans for health insurance." The Administration recommends that any 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 Administrations specific recommendations are included in the HHS Report: Health Insurance in the Age of Genetics. (Attached)

Enactment of these recommendations would extend protections in three important ways. First, it will 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. Second, the recommendations would ensure that health plans do not use "predictive" genetic information to determine premiums. And third, the recommendations would 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 while preserving the exchange of information for the provision of treatment and payment of claims.


I am rewarded and 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. The increasing knowledge about ourselves and our genetic heritage must be used to benefit Americans, to improve their health and well-being, and not to stigmatize or discriminate against them. The public will profit from genetic research advances only if personal genetic information is secure from misuse by insurance companies and other social institutions. The pace of research on the human genome is accelerating, and its consequences for the practice of medicine will be revolutionary. While at present relatively few individuals have undergone predictive genetic testing, that is likely to change rapidly, and the potential for genetic discrimination will greatly expand. We have the unique opportunity to ensure that our social policy keeps pace with the scientific advances made possible through biomedical research. We should not have to wait for a crisis to provide the needed protections. The American people, the President, and the Congress support protections against genetic discrimination in health insurance.

I again commend you, Mr. Chairman, and the Members of this Committee, for bringing to 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. Several bills have been introduced in this Congress that collectively have been endorsed by over 100 Members of Congress and nearly 200 organizations. The Administration would like to build on the principles of these legislative proposals and looks forward to working with you, and other interested Members, to pass bipartisan legislation on this issue this year.

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

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