Human Genome Rough Draft Complete
The competitors in the race to finish sequencing the human genome came together June 26, 2000 to declare victory and to predict the dawning of a new age in the way medical care is delivered. J. Craig Venter, PhD, president and chief scientific officer of Celera Genomics, appeared at a press conference in Washington DC with his competitors, Francis Collins, MD, PhD, director of the National Human Genome Research Institute, and Ari Patrinos, PhD, associate director for biological and environmental research at the US Department of Energy. Members of the public genome consortium described their completion of a “working draft” of the genome. Dr Venter announced that Celera had completed its first assembly of the genome. International partners in the genome project, notably the Sanger Center in Great Britain, announced the completion of the working draft in London.
Ten years ago, the Human Genome Project began when the first pilot sequencing centers were named across the nation. At that time, genome officials thought the project would take 15 years and $3 billion to complete. However, technology improved and the formerly labor-intensive sequencing became more and more computerized. In 1998, Dr Venter issued his famous challenge, announcing that his company could completely sequence the genome before the year 2001. That spurred the public consortium to speed up its own efforts, changing its immediate goal from a 99% complete genome sequence to a 90% complete “working draft.”
The Human Genome Project has ended up being that most rare of government endeavors—ahead of schedule and under budget. However, the working draft is only the first chapter in the new book of medical care. The final draft—polished, sequenced, and confirmed—will not be available until the year 2003. The availability of gene-based medicines and gene therapy depends on advances in the understanding of genes and the proteins they make. However, the sequencing of the human genome provides a shortcut for scientists attempting to identify the genes involved in certain diseases and will speed the advance of knowledge in the field.
Richard Gibbs, PhD, head of the federally funded sequencing center at Baylor College of Medicine, said the contentious relationship between the public and private sequencing groups had eased somewhat during the past year. He described the human genome project as an important beginning. “It will be like man on the moon, like the start of the Industrial Revolution. The impact eventually will be enormous in medicine.”
President Clinton told the Associated Press that the genome sequence will change “the whole landscape of health care.”
Coalition Calls for Stroke Centers
A national group called the Brain Attack Coalition has called for all hospitals to establish centers to reduce death and disability from strokes (JAMA. 2000;283:3102–3109). “Our recommendations are similar to those guiding trauma enters—getting patients to facilities where the specialists and infrastructure are in place to evaluate and treat them quickly. If facilities can put together the resources to treat trauma patients, why can’t they do the same for stroke patients?” asked Mark J. Alberts, MD, lead author of the article making the recommendation and director of the stroke acute care unit at Duke University Medical Center.
The Brain Attack Coalition said that by recommending the stroke centers, they hoped to improve the level of care for patients with stroke and to achieve some level of standardization of care for stroke victims. They noted that one study indicated that 66% of hospitals lacked stroke protocols and 82% had no procedures for rapidly identifying patients who were suffering an acute stroke (Stroke. 2000;31:66–70). The deficiencies are emphasized by the fact that intravenous tissue plasminogen activator is being used nationally to treat only 2% to 3% of stroke patients. The drug is the only approved intervention for “brain attack.” “Reasons for this low rate include patient presentation beyond the required 3-hour treatment window, clinicians’ concerns about bleeding complications, and the inability of some medical systems to triage and evaluate such patients rapidly,” they wrote.
The recommendations called for the following:
Forming acute stroke teams that include personnel with experience and expertise in diagnosing and treating stroke patients. At a minimum, the team should include a physician and another healthcare professional, such as a nurse or physician’s assistant, who are available 24 hours a day.
Developing written care protocols. These are particularly important when tissue plasminogen activator is used because of the possibility of complications from the use of the medication.
Making emergency medical services a key element of stroke care and ensuring that a call about a possible stroke receives high priority so that patients can be transported for rapid evaluation and treatment.
Ensuring emergency department personnel are trained in diagnosing and treating all kinds of strokes. The emergency department should also have close communications with the emergency medical service, which will warn the department of a possible stroke transport to enable the stroke team to be ready.
Instituting stroke units where patients who have had a stroke can receive care after the emergency treatment has taken place to reduce mortality and morbidity from the cerebrovascular incident.
Making available neurosurgical services for patients who need a surgical procedure or evaluation during their illness. If a hospital does not have neurosurgery in house, such care should be available within 2 hours of the facility.
Ensuring that equipment and personnel for rapid brain imaging studies are available on a 24-hour basis. Stroke centers must be able to perform either a cranial tomographic scan or a brain magnetic resonance imaging scan within 25 minutes of the order being written after the patient arrives at the stroke center. The 24-hour availability of laboratory services is another critical area.
The coalition said that the commitment of the hospital to the idea of a stroke center is important because of the commitment in training, organization, infrastructure, and funding that such centers require. Professional and public education about strokes, how to recognize them, and available treatment is also an important part of establishing a stroke center.
The Brain Attack Coalition is a group of professional, voluntary, and government organizations whose mission is to reduce the occurrence, disabilities, and death associated with stroke. The goal of the coalition, which is chaired by National Institute of Neurological Disorders and Stroke, is to strengthen and promote the relationships among its member organizations. Coalition members include the American Academy of Neurology; the American Association of Neurological Surgeons; the American Association of Neuroscience Nurses; the American Stroke Association, which is a division of the American Heart Association; the American Society of Neuroradiology; the Congress of Neurological Surgeons; the National Institute of Neurological Disorders and Stroke; the National Stroke Association; and the Stroke Belt Consortium.
Growing Liver Cells
Mature liver cells in humans can be generated from bone marrow–derived stem cells, said a Yale-New York University Team in the July issue of the journal Hepatology (July 2000;32:11–16). The research could pave the way for improved treatment of liver damage and disease, said Diane Krause, MD, senior author of the article and assistant professor in the Yale School of Medicine’s department of laboratory medicine and pathology.
Dr Krause said the finding was surprising because “bone marrow has never been considered a source of liver cells. The long-held belief has been that bone marrow is supposed to produce blood cells and the liver is supposed to produce liver cells.” The finding could open new therapeutic avenues for treating liver disease.
Dr Krause and her colleagues analyzed liver tissue taken from female leukemia patients who had undergone bone marrow transplantation from a male donor and male liver disease patients who had received a liver transplant from a female donor.
Using a special stain, the scientists determined that there were liver cells with the Y chromosome in the otherwise female livers of the female leukemia patients, and they said the only source of the cells was the bone marrow donated by men. They also found cells with an Y chromosome in the liver cells of men who had received a woman’s organ as a transplant.
The researchers said that it has been known for some time that there are cells in the liver that can regenerate the organ’s tissue, but there is a disagreement about the source of these cells.
Lives of Children Improve
US children’s lives improved significantly from 1990 through 1997 in 6 of 10 categories. Infant mortality, which is often used as a marker for the health of a community, declined from 9.2 deaths per 1000 live births in 1990 to 7.2 deaths by 1997.
The report, which was released in June by the Annie E. Casey Foundation, also demonstrated improvements between 1990 and 1997 in child death rate; teenage death rate by accident, homicide, and suicide; teenage birth rate; percent of children living with parents who are not fully employed; and percent of teens not attending school. The percentage of teenagers who are high school dropouts remained the same (10%).
However, the report showed that the percentage of children living in poverty increased in 1997 over 1990, as did the percentage of children living in single-parent families. The percentage of low birthweight babies also increased.
More information on the report can be found on the Internet at http://www.aecf.org/kidscount/kc2000/
- Copyright © 2000 by American Heart Association