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Statement on Genetic Testing in the New Millenium: Advances, Standards, Implications 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 House Committee on Science, Subcommittee on Technology,
April 21, 1999

Chairwoman Morella, Ranking Member Barcia and Members of the Subcommittee,

Thank you for holding this hearing today and for your interest in the exciting arena of genetic testing and genomic research. Now just past the halfway point, the Human Genome Project is living up to the promise envisioned by the Project founders nearly a decade ago. Advances in genetics and molecular medicine are revolutionizing our approach to disease research and promise to arm health providers with tools to individually design diagnostic, and therapeutic strategies for maintaining health, preventing disease, and improving treatment outcomes. This will be true not just for single gene disorders such as Huntington’s Disease, but for the host of more common complex diseases like diabetes, heart disease, schizophrenia, and cancer, where subtle genetic differences may contribute to disease risk and response to particular therapies. This hearing today takes on critical importance since these advances are propelling genetic testing into the mainstream of health care and will likely make it a routine part of medicine in the 21st century.

The Human Genome Project

The Human Genome Project (HGP) began in October of 1990 as a 15-year international program to characterize in detail the complete set of human genetic instructions (the genome). Funding for the Project in the United States comes from the National Human Genome Research Institute (NHGRI) at the NIH and the Department of Energy (DOE). The Project’s major international partner is the Sanger Centre in Great Britain, funded by the Wellcome Trust. The aim of the HGP is to arm biomedical scientists with powerful gene-finding and DNA analysis tools to unravel and understand the myriad human diseases that have their roots, at least in part, in DNA. Today, genome project tools developed during the first seven years underpin virtually all-new gene discoveries.

The Project is characterized by a rigorous planning process that sets ambitious research goals, time-lines, and budgets. The goals for the first 7 years of the project were to produce detailed genomic maps, develop new sequencing technologies, and map and sequence the entire genomes of important model organisms. These goals have been met ahead of schedule and under the projected budget.

The Project’s new 5-year Research Plan was published in Science last October and will guide the Project through 2003. The central goal of the HGP’s new plan is the reading of each of the 3 billion bases, or letters, of the human genome by 2003. But the Plan also included bold new goals, including an ambitious goal to complete an accelerated "working draft" of the human sequence. This "working draft" now is expected to be 90 percent completed within the next 12 months. The rapid availability of the working draft sequence will deliver valuable information to the research community and provide the scaffold for finishing the highly accurate human DNA sequence by 2003, or possibly even sooner.

Because researchers around the world participating in the public sequencing effort have agreed to rapidly submit their data to free public databases, any scientist, whether at a university, corporation, or government lab, can log on by computer and have full and rapid access to the sequence data. The sooner the public effort to sequence the human genome is complete and deposited in a free and publicly accessible database, the sooner it will benefit all scientists working to understand and treat disease at a molecular level.

HGP is More than Human Sequencing

Human sequencing is only one of the eight goals of the new 5-year Plan. The remaining seven goals can be thought of as the development of a new and more diverse set of "power tools", all of which are to be given away and used by researchers in both the public and private sectors. These tools include the development of the catalog of variations in human DNA sequence; new technologies and strategies for studying gene function on a whole-genome scale; and new areas of ethical, legal, and social implications (ELSI) of research (the "safety goggles" that should be used with power tools), such as identifying and addressing issues that link genetics to personal identity and racial or ethnic background, and their implications for philosophical and religious traditions.

Application to Disease

In the past, genetic contributions to most common diseases were virtually impossible to sort out, because the underlying molecular defect was not apparent and the responsible genes could not be identified successfully. The power tools of the Human genome Project have changed all of that. An investigator can now track down the precise cause of a highly heritable disorder in a matter of a few months and has a much better chance of uncovering the genetic contributions to complex diseases.

Today, gene discovery has been aided by a "gene map" compiled by more than 100 scientists from government, university, and commercial laboratories around the world. Constructed largely by scientists at NHGRI-supported research centers and the National Library of Medicine, the map represents the Human Genome Project’s most extensive effort so far to locate and identify the 80,000 genes in the human genome. The map now contains about 38,000 gene tags. As more genes are precisely mapped, it will become almost routine for disease gene hunters to find an already characterized gene waiting for them when they arrive at the neighborhood they know is involved in a disease. An electronic version of the gene map organizes the details into a readily accessible Internet site (www.ncbi.nlm.nih.gov/genemap) with extensive links to supporting data about the DNA structure of the genes and the proteins they encode. This gene map is reducing the time it takes to locate a gene from years to as little as several weeks.

Complex Diseases

While highly heritable disorders can now be almost routinely unraveled, most human diseases have genetic contributions that are less dramatic. NHGRI intramural studies of prostate cancer provide a compelling example of how genome project tools are bringing clarity to such scientifically murky health problems. Because prostate cancer clusters in some families, researchers have suspected the disorder has a genetic component. That suspicion was borne out two years ago when NHGRI intramural researchers and their coworkers located a region on chromosome 1 that appears to contain a gene variation (HPC1) that predisposes men to prostate cancer. Less than six months ago, the same team of NHGRI researchers found a second site, on the X chromosome (HPCX), that also appears to contribute to prostate cancer. And there will likely be others. In this way, Human Genome Project tools now allow scientists to develop a comprehensive understanding of the causes of cancer, and will ultimately provide a fundamentally new paradigm for sorting out the hereditary, environmental, and socio-economic bases of human illness.

While prostate cancer is common among all U.S. males, it is especially common among African-American men. They are 35 percent more likely than Americans of European descent to develop the disease and more than twice as likely to die from it. Researchers based at NHGRI and Howard University are heading a nationwide study that applies genome technologies to attempt to explain the causes of this disparity. Are men of African descent inherently more susceptible to prostate cancer, or are environmental factors playing a role, or both?

The Howard-NHGRI study is being carried out primarily by African American scientists and doctors located in seven study centers around the country. So far, 28 large African-American families with several affected men have volunteered medical histories and blood samples that will be used to zero in on prostate cancer-related gene alterations on chromosomes 1, X, and others. In the next few years, these studies will provide a much broader understanding of this very common disorder, and should suggest new ways to intervene, treat, or even prevent it.

Prostate cancer is just one example among many where scientists are using Human Genome Project research tools to investigate the genetic contributions of the vast array of common diseases. The accelerated flow of genomic information and technology is opening doors for the discovery of new diagnostics, preventive strategies, and drug therapies for a whole host of diseases, including diabetes, hypertension, heart disease, cancer, and mental illness. Just this past year alone, NHGRI intramural scientists discovered a number of important gene variations associated with neurological disorders, cancer, and several other human diseases. Nearly every day, Americans read of new genetic discoveries in the morning paper or hear reports on daily news shows about exciting research developments that have been made possible because of the explosion of new knowledge and technologies in molecular medicine.


One of the exciting new goals of the HGP's 5-year plan is the cataloging of common human genetic variants. Many in the academic and pharmaceutical communities believe that the identification of human genetic variations, or "SNPs" (single nucleotide polymorphisms or "snips") through the use of HGP tools will eventually allow clinicians to subclassify diseases and to better adapt therapies to the individual. Not only will the genetic contributions to many common illnesses likely arise from the presence of SNPs in vulnerable parts of the genome, large differences in the effectiveness of medicines may also exist from one individual to the next as a result of common genetic variants. Some toxic reactions to drugs may also be a consequence of genetically encoded host factors.

For example, researchers have discovered that Alzheimer’s patients with the gene subtype ApoE4 are less likely to benefit from the drug tacrine. Such a finding helps target the use of tacrine, will help data analysis of clinical trials of Alzheimer’s therapies, and will promote targeting of new therapies specifically to ApoE4 carriers. This basic principle has spawned the burgeoning new field of pharmacogenomics, which aims to use information about genetic variation to predict responses to drug therapies and tailor drug design.

Last Fall the NHGRI and 15 other institutes and centers of the NIH banded together and awarded $38 million over the next 3 years to develop a catalog of SNPs. Just last Thursday, a consortium of 10 pharmaceutical companies and the Wellcome Trust (The SNP Consortium) unveiled the Consortium’s plan to build upon the NIH-supported SNP catalog with the award of $45 million over the next two years to academic genome centers for the cataloging of up to 300,000 more SNPs. As with the NIH supported SNP resource, the Consortium has announced its intent to deposit their data in freely accessible databases for use by both academic and industry scientists.

The entrance of the private companies into this unique consortium, dedicated to maintaining their findings in the public domain, is testimony to the value of this powerful new research tool. It also illustrates how basic science initiatives in the public and private sectors can be designed in a synergistic fashion to accelerate discovery, maximize resources, public and private, and bring benefit to the whole research community.

Genetic Testing

Having the complete set of human genes – the periodic table for biology – will make it possible to begin to understand how genes function and interact. All of human biology then likely will be divided into what we knew before having the human DNA sequence and what we knew after. But, the HGP does not stop with completion of the human sequence.

This rapid availability of genomic resources and tools will accelerate dramatically the isolation of genes involved in disease and in drug response. As genome diagnostic and treatment technologies move from the laboratory into the health care setting, new genetic testing methods will make it possible to read the instructions contained in an individual’s DNA. Such knowledge may:

  • Confirm a diagnosis of an individual who has already developed a disease;
  • Predict risk of future disease in healthy individuals and alert patients and their health care providers to begin prevention strategies; or
  • Identify risks of having a child with an inherited disorder.

Today, over 550 genetic tests are being used in the diagnosis of disease. Some also are being used to identify individuals at high risk for problems such as glaucoma, colon cancer, inherited kidney cancer, and other disorders before they become ill, and allowing potential life-saving interventions. In the next century, the gene-based approach to medicine will revolutionize how we diagnose and treat disease and genetic testing will be a critical tool in the health care provider's arsenal.

Just a few years ago, genetic tests were available primarily in academic medical centers for mostly rare disorders. However, a recent study in the Journal of the American Medical Association (JAMA) provides evidence that the use of genetic testing outside of a research setting is increasing steadily. The study reported that the total number of tests performed by surveyed laboratories in the period 1994 - 1996 grew each year by thirty percent or more. In addition, 64 percent of the laboratories that reported doing molecular genetic testing were in a hospital setting, while 18 percent were in a research setting, and another 18 percent were based in independent or commercial establishments. Over the next decade this growth trend is expected to accelerate and genetic testing will become ever more common throughout the health care system, and will be applied increasingly to common disorders.

Ethical, Legal and Social Implications

In general, researchers and health care providers agree that predictive genetic testing should not be offered in the clinical setting without knowing the reliability and validity of the tests. Many also have raised concerns about the clinical use of genetic tests in the absence of safe and effective medical interventions for people who are found to carry inherited alterations that put them at high risk for disease. However, genetic testing still is a relatively new medical intervention for which regulatory and legal controls are unclear and the pathway for the clinical integration of new predictive tests has yet to be established.

From its inception, the Human Genome Project of the NHGRI recognized the responsibility not only to develop powerful new gene-finding technologies, but also to address up front the broader implications of these newfound abilities to decipher genetic information. Because genetic information is personal, powerful, and potentially predictive, its misuse can have significant consequences to individuals or to groups of individuals. NHGRI commits 5 percent of its extramural research budget to support research on the ethical, legal, and social implications (ELSI) of advances in genetics. The early goals of the ELSI program focused on four high-priority areas: (1) the use and interpretation of genetic information; (2) the clinical integration of genetic technologies; (3) issues surrounding the conduct of genetics research; and (4) public and professional education in genetics.

Task Force on Genetic Testing

Recognizing the need to examine the clinical integration of genetic testing and its regulatory and legal environment, the NIH-DOE Joint Working Group on the Ethical, Legal, and Social Implications of Human Genome Research (ELSI Working Group) established the Task Force on Genetic Testing in early 1995. The Task Force was charged by the Working Group with reviewing genetic testing in the United States and with making recommendations to ensure the development of safe and effective genetic tests. Safety was defined as encompassing not only the accuracy and utility of genetic tests, but also their delivery in laboratories of assured quality, and their appropriate use by health care providers and patients.

So as not to duplicate testimony, I will leave the outlining of the findings and recommendations of the Task Force report to other witnesses on the panel. As Director of the NHGRI, I appreciate the many hours of hard work that the members of the Task Force devoted to their considered and important review of this critical topic. I particularly appreciate the wisdom and leadership exhibited by the Task Force Chair, Dr. Neil Holtzman, and the Co-Chair, Dr. Michael Watson.

Advisory Committee on Genetic Testing

In June 1998, Secretary Donna Shalala chartered the Secretary's Advisory Committee on Genetic Testing to help the Department formulate policies on the development, validation and regulation of genetic tests. The Committee is being established in response to the recommendations of two NHGRI advisory groups: the Task Force on Genetic Testing and the Joint NIH-DOE Committee to Evaluate the ELSI Program. The Secretary's Advisory Committee will address broad, Department-wide policy issues raised by genetic testing. It will have overlapping membership with the Clinical Laboratory Improvement Advisory Committee of the Centers for Disease Control and Prevention (CDC) and the Medical Devices Advisory Committee of the Food and Drug Administration (FDA) in order to ensure appropriate coordination of genetic testing activities and policies.


Madam Chairwoman, I commend you convening this hearing today on advances in genetic testing technology. The vision for the new century of genetically based individualized preventive medicine is exciting, and could make a profound contribution to human health. For its full potential to be realized, however, we must carefully attend to the accompanying ethical, legal, and social implications.

Protections must be erected against the misuse of genetic information. Fears about the loss of privacy of genetic information and the loss of a job or insurance coverage may make people hesitant to use medical advances. They also may be hesitant to volunteer for studies of disease-linked gene mutations for fear the results could be used against them. Although many states have attempted to address "genetic discrimination" in health insurance and the workplace, federal legislation would provide the most comprehensive protections.

Every physician, nurse, and health care provider will need to become familiar with this emerging field of genetic medicine. The need for medical genetic specialists who can sort out the most complex cases will be considerable, but there will not be enough of them to go around, and most genetic medicine will be delivered by primary care providers.

Finally, we must implement the proper regulatory and legal framework for the successful clinical integration of emerging genetic technologies. The Task Force on Genetic Testing report provided a good starting point for that process. There is still much work to be done. Now is the time for all parties to come together and develop a meaningful framework for insuring the safe and effective use of new genetic technologies in medicine.

Thank you again for the opportunity to testify. I look forward to answering any questions.

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