Dec. 17, 2009 -- The first decade of the 21st century brought a number of discoveries, mistakes and medical advances that influenced medicine from the patient's bedside to the medicine cabinet.
In some cases, these advances changed deeply rooted beliefs in medicine. In others, they opened up possibilities beyond what doctors thought was possible years ago.
ABC News, in collaboration with MedPage Today, reached out to more than 800 specialists for their suggestions. More than 125 experts in various fields and specialties responded. Their suggestions were then sent to the American Association for the History of Medicine, which narrowed the pool down to an authoritative list of 10 medical advances this decade that have had the most impact.
1. Human Genome Discoveries Reach the Bedside
In 2000, scientists with the International Human Genome Project released a rough draft of the human genome to the public on the Internet. For the first time, the world could download and read the complete set of human genetic information and begin to discover what our roughly 20,000 genes do.
Mapping the human genome was a race involving time and money in the 1990s, with two competitors at the lead. Starting first in 1990 was the government-funded Human Genome Project, which released data to the public daily as it built technologies and mapped animal genomes. The group completed a draft of the human genome in about 10 years using about $2.5 billion in taxpayer money for all activities and $300 million for the human genome.
At the end of the decade the human Genome Project had a competitor -- a private company, Celera Genomics, which used a different "shot gun" sequencing technique and spent $100 million on mapping the human genome, according to Dr. Craig Venter, the chief scientist behind Celera Genomics.
Both groups announced drafts of the human genome at a June 26, 2000 press conference with President Bill Clinton and British Prime Minister Tony Blair.
"It's one of the major landmarks that rank up there with going to the moon. Obviously people think I could be a little biased, but I think historians will agree with me," said Dr. Francis Collins, who was the director of the National Human Genome Research Institute when the genome was mapped.
"I think when people look back in 100 years, and look at what was the most significant advance in medicine and all of scientific research in this decade it will be the human genome," said Collins said, who is now the director of the U.S. National Institutes of Health.
In 2003, a "final" draft was released by researchers, and in 2007 more updates to the genome were published.
"It's the precursor for lots of medical advances," said Venter, now chairman and president of the non-profit J. Craig Venter Institute.
"That was absolutely the hope for it, that it will begin to change things," said Venter, who was awarded the National Medal of Science by President Obama last month for his work on the human genome.
Collins said he expects the knowledge of the human genome to slowly influence medical achievements considering the time it takes to test medical theories and how much scientists have left to learn about the genome.
But some advances are already underway.
"Certainly in the area of cancer, it is in fact routine for people to find out their own genetic risk and to modify their surveillance," said Collins. The fields of breast and colon cancer have seen significant gains in this sort of genetically-personalized medicine.
Collins also expects people will have their genome sequenced regularly in the next five years or so, once the cost of sequencing the genome reaches about $5,000 and privacy protections for people's genetic information are in place.
"There will be drugs and other therapies waiting for you based on an understanding of the human genome that will likely be more effective and less toxic," said Collins.
For example, Collins said doctors have changed the way they treat a form of childhood leukemia. About one in 300 kids used to have severe toxic side effects, and occasionally die, from the normal dose of the cancer drug called "6-MP." Through genomic research, scientists found that only children with a certain genetic mutation will have these dangerous side effects. Now doctors can do a genetic screening and prescribe the right dose for each child.
Unknown Future Ahead With Genome Mapped
"The potential here is enormous and we're only at the very beginning stages," said Keith-Thomas Ayoob, associate professor of pediatrics at the Albert Einstein College of Medicine in New York. "Last century, DNA was discovered. Now, we have the protein-coding sequence for our 23,000-plus genes.
"There's incredible potential here -- for good and bad, but at least it's got the potential for good," said Ayoob.
Many have voiced concerns about individuals' genetic privacy if genome sequencing becomes cheaper, widely accessible and popular. But others say the benefits are too much to ignore.
Dr. Margit Burmeister, professor of psychiatry and human genetics at the University of Michigan in Ann Arbor, said our genes, for example, already have changed the way we treat lung cancer by tailoring medicine to the individual.
"Drugs like Iressa [a lung cancer drug] should only be given to people with certain mutations," Burmeister said. "This is really only the start, and my prediction is that in the next 10 years, this will become a lot more important."
"It's hard to imaging areas of society that aren't touched by it," said Venter.
2. Doctors and Patients Harness Information Technology
Patients may not even think of it as they sign in with a pad and pen, then sit in the waiting room while the nurse pulls their file. But doctors say the internet and information technology has actually changed the way they practice medicine for the better. Even doctors need to look things up from time to time.
"Early in practice," said Dr. John Messmer, associate professor at the Penn State College of Medicine in Hershey, "if I had a clinical question to research, I had to go to the library, pull out multiple years of the Index Medicus, look up the topic, write down the references, go to the stacks and pull the volumes of journals, find the article, read the article, go to the copy machine and make a copy. ... If I were lucky, I would have my answer in about four hours."
"Now I can be on rounds and in five minutes have more information on the topic than I need," Messner said. "On my iPod Touch, I can look up a medication, check the formulary to see if it's covered, check for interactions with a patient's other meds and double check details of the pharmacology of the med, plus quickly review the problem I am treating. And I don't even have to go online."
Information technology also, to some degree, has made life safer for the patient. Once admitted to a hospital, they get a bar code that matches their blood samples and their IVs.
"The ways in which computer systems are improving hospital care ... is pervasive and radical," said Dr. Margaret Humphreys, editor of the Journal of the History of Medicine.
But many physicians have been reluctant to go digital because there is a significant upfront investment, which is why several of the health care reform measures now before Congress include provisions to underwrite some of this cost.
With or without reform, the Obama administration has an ambitious program aimed at converting paper records to electronic health records. It has earmarked $20 billion to pay for the switch-over and named medical wonk Dr. David Blumenthal to serve as national coordinator for health information technology.
3. Anti-Smoking Laws and Campaigns Reduce Public Smoking
There is no national smoking ban in the United States. However, 27 states and the District of Columbia have enacted restrictions, including seven states that banned smoking in bars and casinos in recent years.
In a report issued last October, the Institute of Medicine said those public smoking bans have cut exposure to secondhand smoke, which, in turn, has contributed to a reduction in heart attacks and death from heart disease.
Dr. Lynn Goldman of Johns Hopkins Bloomberg School of Public Health, who chaired the committee that wrote the Institute's report, said the debate was over and that, "Smoking bans work."
Experts on the history of medicine agreed.
In the United States, "anti-smoking campaigns, including banning of smoking in workplaces and public places [has] enormous impact across socio-economic classes on many diseases," said Humphreys of the Journal of the History of Medicine, who added that smoking increases the risk for strokes and many cancers.
"In terms of the greatest good for the greatest number, there can be no doubt that the decline in smoking has had the greatest impact," Humphreys added. "Virginia and North Carolina are just getting around to banning cigarettes in all restaurants now, so the public bans do track over the last 10 years."
While public smoking bans protect people from secondhand smoke, doctors said they also motivate people to quit.
"It's probably the most important 'doable' public health measure for decreasing morbidity and mortality," said Dr. Richard Kahn of Tenants Harbor, Maine. "There is good data that as it becomes more difficult for people to smoke, more will quit."
4. Heart Disease Deaths Drop by 40 Percent
Those looking for dramatic improvements in public health need look no further than the world of heart disease.
A mere 25 years ago, when a patient came to a hospital with a heart attack, the best that could be done was to put the patient in a darkened room, give him or her morphine for pain and lidocaine, which doctors believed would prevent dangerous irregular heartbeats, and hope for the best.
Heart attacks, called infarcts, were "big" and the damage to the heart muscle often was catastrophic, leading eventually to heart failure and death.
By contrast, treating a heart attack now is all about speed: Speed the patient to the hospital so that a clot that blocks the life-saving flow of blood can be "busted" with drugs like the genetically engineered tissue plasminogen activator or tPA.
Or, if the problem is a vessel narrowed by buildup of plaque, a tiny flexible tube called a stent can be guided from an artery in the groin or the forearm up into the heart, where it is used to prop open the vessel to allow blood to flow normally.
Still other patients are sent to surgery, where surgeons have learned sophisticated techniques to sew new vessels into the heart to bypass diseased arteries.
Moreover, drugs that didn't exist 25 years ago -- chiefly statins like Simvastatin, Lipitor, Mevacor and Crestor -- now are used routinely to slow the progression of atherosclerosis, the medical term that describes the build-up of the hard, waxy substance called plaque that narrows arteries.
Cardiologists say such efforts really began to bear fruit after 2000.
"In 1998/2000, the American Heart Association set a decade-long goal to reduce coronary heart disease and stroke and risk by 25 percent by 2010. We actually realized this goal by 2008 and have seen continued improvements in the reduction of deaths due to coronary heart disease and stroke," said Dr. Clyde Yancy, president of the American Heart Association. "As of today we have seen a near 40 percent reduction in death due to coronary artery disease since 1998/2000."
Research shows about half of the gains in heart disease came from new treatment interventions, Yancy said, and the other half, or up to 60 percent, are because of prevention.
"What this means is that the community 'gets it'. Better control of blood pressure, pre-emptive lowering of blood cholesterol levels, better diets, and reduced smoking are resulting in fewer [cardiac] events," he said.
5. Stem Cell Research: Laboratory Breakthroughs and Some Clinical Advances
Probably no area of research has fired the public imagination and ignited the fires of public controversy as much as stem cell research.
In reality, this area has generated more political action than reproducible clinical advances -- the much-publicized ban on federal funding of embryonic stem cell research was rescinded this year.
But the clinical advances -- even when they have come from pilot studies --have been tantalizing.
For example, European researchers genetically manipulated bone marrow cells taken from two 7-year-old boys and then transplanted the altered cells back into the boys and apparently arrested the progress of a fatal brain disease called adrenoleukodystropy or ALD, which was the disease that affected the child in the movie "Lorenzo's Oil".
"Cases like those fuel the promise of stem cell research. As the population ages, the opportunity for 'replacement parts' becomes more and more inviting, and I'm counting on stem cell research to give me, at least, new cartilage for my knees," Humphreys joked. "This seems likely to be the future of regenerative medicine."
Stem cell researcher Dr. George Daley of Children's Hospital Boston, called the progress in both adult and embryonic stem cell research this decade "breathtaking."
"Now we can make embryonic-like stem cells directly from skin cells, which makes it possible to model a multitude of human diseases in the petri dish. New drugs based on stem cells are being developed, and the first human clinical trial based on products of human embryonic stem cells is expected in 2010," said Daley. "The science of the past decade has been spectacular, and we're hopeful that in the next decade, we'll start to realize the promise of new stem cell therapies."
6.Targeted Therapies for Cancer Expand With New Drugs
Two blockbuster targeted therapies burst on the cancer scene in late 1990s, and arguably changed forever the concept of cancer treatment, converting what often was a fatal disease into a chronic illness.
The first involves Herceptin, a drug that targets a type of breast cancer that is characterized by a specific cancer gene -- an oncogene -- called HER-2.
Women whose cancers express HER-2, which is estimated to be about 25 percent of women with breast cancer, will respond to Herceptin even when other powerful chemotherapy drugs have failed.
Dr. Kimberly Blackwell of Duke University Medical Center said doctors received a standing ovation when they presented the results of Herceptin drug trials.
"The introduction/approval of Trastuzumab (Herceptin) and lapatinib (TyKerb) in breast cancer will prevent many women's breast cancers from recurring and have significantly improved survival for many women faced with breast cancer," said Blackwell. "More important, these drugs represent highly effective agents that target the cancer, not the patient.
"Probably one of the only standing ovations I will witness in my career was when [it was] presented by Edward Romond at the annual meeting of the American Society of Clinical Oncology," Blackwell added.
The other therapy, using a cancer pill called Gleevec, targets genetic mutation called bcr-abl (b.c.r. able) that causes cancer cells to grow and multiply in patients with a variety of cancers, including chronic myeloid leukemia, or with a stomach cancer called GIST.
The two breakthrough agents opened the door to a number of cancer drugs that targeted specific molecules that control not only cell growth, but also the blood supply that feeds tumors.
7. Combination Drug Therapy Extends HIV Survival
Since the introduction of highly active anti-retroviral therapy, or HAART, as this combination therapy approach is called, HIV/AIDS has evolved into a serious, but chronic disease with survival stretching into decades.
Moreover, this "cocktail" approach to treatment, where drugs are combined in different ways or different sequences has become a model for treating other diseases ranging from lung cancer to heart disease.
"In 1996, a 20-year-old person in the U.S. with AIDS expected to live about 3 to 5 years and now expects to live to be 69 years. That is amazing," said Dr. John Bartlett, past president of the Infectious Diseases Society of America. "Think of it: In 1996, everyone in our HIV clinic was prepared to die. Now, they all live. And most of them look great. They just need to take the meds."
"Next challenge is the cure," Bartlett said.
In more than a decade since the emergence of HAART, researchers have constantly refined the regimens to improve results, with evidence now emerging that some combinations may be more effective on patients with more extensive disease.
Dr. Thomas Coates, of the University of California Los Angeles, pointed out that the HIV death rates still are dropping because of continual HIV research.
"The drop in death rates from HIV in the developed world [is] due to improved medications," Coates said. "There was the 10 percent drop in deaths due to HIV in the U.S. between 2006 and 2007."
In Africa, where the HIV/AIDS crises hits hardest today, Coates said doctors are slowly making progress. One of the most triumphant feats in the past decade has been to use antiretroviral drugs to block mother-to-infant HIV transmission.
"It has made a big difference in the developed world where vertical transmission rates have plummeted from over 1000 at the peak to fewer than 100 per year (in the US)," said Coates. "Advances are being made in the developing world, with Botswana leading the way now with a 3 percent vertical transmission rate. It was the first and still is the most effective prevention strategy we have."
8. Minimally Invasive Techniques Revolutionize Surgery
Ten years ago someone would expect to see a six inch scar after a doctor removed an organ, but new techniques in minimally invasive surgery have virtually eliminated scars from some procedures.
In the late 2000s, doctors at the Cleveland Clinic started using a technique that removed the kidney-through the naval, leaving patients examining their belly buttons in search of a scar after donating their kidney.
Today women can look forward to much shorter recovery times from hysterectomies due to another form of natural orifice surgery. Now doctors can remove the uterus through the vagina, not a large incision in the abdomen.
Medical historian Dr. Sandra Moss could testify to the shortened recovery time from minimally invasive surgery.
"My younger sister and I had the same operation 20 years apart. I was hors de combat (out of commission) for one month and loopy from pain meds for two weeks," Moss said. "She was back at work in a few days on no pain medications."
Doctors also have used robotic surgery to improve the accuracy of procedures, especially in cancer cases.
"Robotic surgery increased the ability of cancer surgeons to get clean margins as well, due to the magnification of the structures," said Dr. Douglas Bacon of the Mayo Clinic in Rochester, Minn.
Dr. Richard Caselli of the Mayo Clinic in Scottsdale, Ariz., pointed out that robotic surgery "offers the potential for surgeons to operate on patients remotely."
But critics, and there are many, say the cost of the robotic hardware may outweigh the benefit. Moreover, critics say that the robot revolution is racing ahead of the evidence.
9. Study Finds Heart, Cancer Risk With Hormone Replacement Therapy
Until July 2002, most doctors treating middle-aged women believed that giving their patients hormones -- either estrogen alone or estrogen combined with progestin -- would protect their hearts from the ravages of age that seemed to attack women after menopause.
Hormone replacement therapy, or HRT, also was thought to be good for the bones, the brain, the skin, the figure and the libido, and was considered the best treatment to control the annoying and sometimes disabling symptoms of menopause such as hot flashes, depression and sleep disturbances.
And then the world changed.
The National Heart Lung and Blood Institute, which was sponsoring a placebo controlled trial of hormone replacement therapy in more than 161,000 healthy women, announced that it was shutting down the study because HRT increased the risk of heart attack, stroke, blood clots and breast cancer.
It was the "oops" heard round the world.
Dr. Larry Norton of the Memorial Sloan-Kettering Cancer Center in New York City, believes the two biggest advances in breast cancer this decade were the targeted-breast cancer treatment with Herceptin and "the finding that post-menopausal hormone replacement is associated with a huge increase in the risk of breast cancer."
But the news from the Women's Health Initiative, as the study was known, wasn't all bad. HRT did reduce the risk of colorectal cancer and fractures and was proven to be an effective treatment for hot flashes and some other menopause symptoms.
10. Scientists Peer Into Mind With Functional MRI
Mind-reading has moved from carnival attraction to the halls of medicine with what is known as a functional MRI.
The medical mind-readers are not trying to identify a card randomly selected from a deck. They are using sophisticated imaging techniques to map the way the mind works.
The process, often called fMRI, traces the working of neurons -- brain cells – by tracking changes in the oxygen levels and blood flow in the brain. The more brain activity in one area, the more oxygen will be used resulting in more blood flow to that area. The patient lies awake inside an MRI scanner and he or she is asked to perform a simple task, like identifying a color or solving a math problem.
As the patient answers the question, the fMRI tracks the areas of the brain that are activated.
As the patient answers the question, the fMRI tracks the areas of the brain that are activated by tracing the speed at which the cells metabolize the sugar, or glucose.
First developed in the early 1990s, fMRI began to shape research at the beginning of the decade.
"It has certainly taken off in the past 10 years as a means for studying the living human brain in action," said Caselli. "It has given us innumerable insights into cognition, social interactions, reward systems, decision making and so on."
Using this technique, researchers are learning valuable information about disease such as depression, brain cancer, autism, memory disorders and even conditions such as the skin disorder psoriasis.