107th Congress

The Promise of the Genomic Revolution -- Hearing Before the Senate Appropriations Subcommittee on Labor, Health and Human Services, Education -- July 11, 2001

Members Present

Senator Tom Harkin (D-IA), Chairman; Senator Arlen Specter (R-PA), Ranking Member; Senator Mary Landrieu (D-LA); and Senator Ted Stevens (R-AK).

Witnesses

Panel One: Francis Collins, M.D., Director, National Human Genome Research Institute, National Institutes of Health.

Panel Two: Philip Needleman, Ph.D., Senior Executive Vice President, Pharmacia Corporation; Stephen Rich, Ph.D., Professor of Public Health Sciences, Wake Forest University School and Medicine; Chairman, International Type I Diabetes Genetics Consortium; and Member of the Juvenile Diabetes Research Foundation Medical.

Science Review Committee Jeffrey C. Murray, M.D., Professor of Pediatrics, Biology, and Preventive Medicine, University of Iowa; Ben Affleck, Actor/Ataxia Telangiectasia (A-T), accompanied by Joe Kendrigan, a friend with A-T, and Brad Margus, President and Co-Founder, A-T Children's Project.

Summary

Purpose of Hearing: The purpose of this hearing was to look at how recent advances in genetic research are contributing to our understanding of disease. Last year, scientists at the Human Genome Project announced the breakthrough of the mapping of the human genome. This discovery brings hope for promising therapies to treat and cure diseases.

Opening Statements

Senator Harkin opened the hearing by discussing the breakthrough of the mapping of the human genome and how it "ranks as one of the greatest medical achievements in our history." He said that he was proud that this Subcommittee provided the Federal funds to help make it happen. He added that the reading of the human genome, the next step, will lead to great medical advances for fighting and treating diseases. He also cautioned about a darker future where "people can get fired or lose their health insurance because of a genetic predisposition to certain diseases." Senator Harkin explained that is why he cosponsored a bill that would make it illegal for employers or health insurance companies to discriminate against people because of their genetic makeup. Senator Specter made similar statements about how he and Senator Harkin led the way to increase funding at NIH. He said that both he and Senator Harkin are concerned with the limits on Federal funding for stem cell research, and they have a bill which would allow the use of Federal funds for this purpose. He said that in the Senate there are at least 70 votes, perhaps 75 votes, to reverse this prohibition. In addition, he said that 40 House Republican Members have sent a letter to the President in support of stem cell research. He cautioned that if the White House does not proceed by regulation to relax this prohibition that would allow such research with specific ethical standards, than the private sector will act and simply create embryos for the sole purpose of experimentation, as was reported in today's New York Times. He stated that this raised "very profound ethical questions of propriety."

Statements of Witnesses

Dr. Collins thanked the Subcommittee for their commitment to research. Dr. Collins then highlighted the achievement of sequencing the human DNA code which is available to everyone on the Internet and is able to help advance our understanding of disease. In the last three years more than 50 disease genes have been identified. "Those are all diseases that otherwise would still be trapped in a bottleneck of ignorance, but are on the pathway toward understanding, and ultimate prevention and cure." Dr. Collins discussed how we are entering the next phase in genetic research. "It is great to have the map, but now we must understand it." He said scientists are now engaged in the decryption of the code. The next step is the "visionary" phase where the goal is to build a comprehensive picture of human variation. He predicted that health care in 2015 will look very different from today. He gave an example of a patient in 2015 being able to go through a battery of tests that are able to predict her future risk of illness or to make an early detection of certain illnesses. This patient would also be armed with preventive strategies to keep the terrible outcomes from occurring.

Dr. Needleman gave the industrial perspective of the implications and use of the human genome data. He gave an example of how mapping of genetic mutations has brought the discovery of two mutations associated with Alzheimer's disease. These mutations cause a protein to be over produced in families with a genetic predisposition to early Alzheimer's disease. Due to this discovery, researchers at Pharmacia have been able to produce an enzyme to reduce production of the protein in mice. He discussed a similar advance being made in the fight against colon cancer. He said that it is clear that these new tools will help change the nature of disease and the quality of life of individuals.

Stephen Rich discussed the progress being made in the genetic basis of Type I diabetes. Jeffrey Murray gave some real life examples of patients whose lives have been impacted by the genome project. Ben Affleck spoke on behalf of his close friend, 13-year-old Joe Kendrigan, who is suffering with A-T. The defective gene that causes A-T in children has been identified, but more research is needed. He asked the Members of the Subcommittee to invest in A-T research at NIH.

Questions

Senator Harkin: Senator Harkin asked Dr. Collins if the human genome project is over with the draft sequence of the human genetic code; if not, what is left to be done; and whether we can speed up the date when comprehensive genomics-based health care will be the norm? Lastly, Senator Harkin asked about the recent agreement between the National Cancer Institute and Celera to use Celera's database when NIH already has access to its own database for free. Dr. Collins explained that while sequencing for the genome was the most obvious and visible goal of the genome project, this has always been a multi- component effort. Further, he stated that the next stage, which involves the decryption of the code, has emerged as the new and important phase of the effort. He likened it to the field of chemistry by explaining that we have now defined the periodic table of elements as the normal human genes, and now the search is on for the isotopes or the variances. He added that some now argue that genomics have become the central science of medical research. Every Institute at NIH is investing in it as well as the private sector. With regards to the agreement with Celera, Dr. Collins explained that NCI worked out what the terms would be if an intramural investigator wanted to subscribe to the Celera database. Since 95 percent of the human sequence is available in the public domain, Dr. Collins speculated that relatively few investigators would find it worth the cost ($16,000) to go to this alternative database.

The focus of the questions for the second panel focused on A-T. Senator Harkin asked Dr. Collins to tie the advances made in genetic research with Joe Kendrigan's situation- how does it work for Joe? Dr. Collins started by saying that of the 50 disease genes discovered to date, A-T is among them. Now with these powerful tools, we are poised to unravel the biochemical level of why the single gene that is not working in that condition causes the havoc that it does.

Lastly, Senator Harkin asked all the panelists to discuss how genetic research and stem cell research tie together. Where do they meet? How do they support one another? Dr. Murray shared an example of a father who recently donated a kidney to his daughter. Her family had a very unusual, and as yet unidentified, genetic immunologic disorder. The genome project holds out hope that this disorder will be identified. Stem cell research holds out the hope that one day such patients will not need a transplant from a family member; rather, stem cells might be able to generate a kidney, an artificial organ, which is on the outside and is compatible with this patient, and that she could receive herself. Brad Margus discussed current research with mice with A-T where stem cells are being injected into the brains of mice. It is hoped that these stem cells will go to those damaged areas of the brain and produce growth factors and become wired. Mr. Margus explained that there is great hope in stem cell research. He said that he often cautions people that stem cells may not work exactly as hoped; however, if you don't know exactly what is going on, then you can't tweak it. Dr. Collins added that all cells seem to have the same instruction book. One of the most amazing developments is that a cell type can reprogram itself to become a different cell type. "That all has to come about because the genome, that set of instructions, has the ability to be modulated down different pathways. The understanding of that is critical to our medical applications of this really surprising set of new biological insights."

Senator Stevens: Senator Stevens asked Dr. Collins when his project will be completed and when the information obtained will be in the hands of the family physician. Senator Stevens, in a follow-up question, asked if telemedicine might be used to help rural doctors get instant consultation. Dr. Collins explained that it is hard to determine when it will be over since it is evolving. Some might say the work was completed when the sequencing was complete. It is evolving with all the new information, and it is a field that has more promise for the future. As for when the family doctor will be able to benefit from this information, this also is tricky because most physicians have not had much exposure to the field of genetics. He said that plans are underway to help bridge this gap. He explained that by working with the American Medical Association and the American Nurses Association, we have an ambitious agenda for trying to provide that kind of educational information so that doctors and nurses will be in a position of being able to implement these exciting new opportunities and not just confuse themselves and patients by an unfamiliarity with the new area called genetics. With regards to the telemedicine, Dr. Collins stated that he thought that was a great idea, and, in fact, quite possible since many of the questions could be answered electronically.

Senator Landrieu: Senator Landrieu asked if there is anything that could be done today to help A-T, besides additional funding. Brad Margus said, and Dr. Collins affirmed, that part of the obstacles to finding a cure for A-T is to get more doctors, clinicians, involved in research. Today there is a lot of pressure on doctors with managed care. Dr. Collins said that NIH is doing some innovative things, like loan repayment, in an effort to attract young doctors to the field of research. Dr. Collins said that he would be happy to provide more information about the programs that NIH has already put in place.

Prepared by Lauren Higgins/OD/OLPA, July 16, 2001