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Human Genome Discoveries Reach the Bedside

In 2000, scientists in with the International Human Genome Project


released a rough draft of the human genome to the public. For the first
time the world could read the complete set of human genetic
information and begin to discover what our roughly 23,000 genes
do.

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.

5. Stem Cell Research: Laboratory Breakthroughs and Some Clinical


Advances

Probably no area of research has so fired the public imagination and


so ignited the fires of public controversy as that of 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funding of embryonic stem cell research was rescinded this year.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 with embryonic or adult stem cells -- 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, be it
embryonic or adult stem cells. 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," joked Humphreys. "This seems likely to be the future of
regenerative medicine."

Stem cell researcher George Daley, MD, PhD, of Children's Hospital in


Boston, called 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 was often a fatal disease into a chronic illness. The
first, Herceptin, is 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.

Kimberly Blackwell, MD, 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. More important, these drugs
represent highly effective agents that target the cancer, not the
patient," said Blackwell.

"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."

The other drug, 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.

These two breakthrough agents opened the door to a number of


cancer drugs that target 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 antiretroviral 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 three to five years and now expects to live to be 69 years. That
is amazing," said John Bartlett, MD, 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," said Bartlett.

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 effecting patients
with more extensive disease.

Thomas Coates, MD, of the University of California Los Angeles,


pointed out that the HIV death rates are still dropping due to 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 US between 2006 and 2007."

In Africa, where the HIV/AIDS crisis hits hardest today, Coates said
doctors are slowly making progress-and in some cases real gains,
which is the case with the use of 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 1,000 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
not with a 3% vertical transmission rate. It was the first and still is the
most effective prevention strategy we have."

8. Minimally Invasive and Robotic Techniques Revolutionize Surgery

Ten years ago a patient would typically be left with a 10-inch scar when
a doctor removed a kidney, but in late 2007 the surgeons at the
Cleveland Clinic began removing kidneys through a single incision in
the patient's navel.
And earlier this year, a Cleveland Clinic surgeon removed a diseased
kidney from a woman using a technique called natural orifice
translumenal endoscopic surgery or NOTES. In the case of the woman
the kidney was removed through her vagina-an approach originally
developed for hysterectomy.

Tiny metal hands carefully manipulating sutures deep inside the heart
seems like a scenario pulled from "Star Trek," but the reality is that
robotic surgery is occurring daily in a growing number of centers
across the country.

The greatest benefit of tiny openings into the body rather than large
incisions made by traditional surgery, may -- believers say -- be shorter
and less painful recovery time.

Medical historian Sandra Moss, MD, believes this, especially after


watching a sibling undergo a 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 -- she was back at work in a few days on no pain
medications," said Moss.

Doctors have also 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
Douglas Bacon, MD, of the Mayo Clinic in Rochester, Minn.

Richard Caselli, MD, 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-age 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 replace therapy, or HRT, was also 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.

Larry Norton, MD, of the Memorial Sloan-Kettering Cancer Center in


New York City, believes the two biggest advances in breast cancer this
decade was the targeted-breast cancer treatment with Herceptin and
"the finding that postmenopausal 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 to the
brain. The more brain activity in one area, the more oxygen will be
used and the more blood will flow to that area. The patient lies awake
inside an MRI scanner. 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 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.

Whether it's the technology that allows us to peer deep into the body
or medicines that extend the lives of those with chronic diseases, it's
easy to see how advances in health and medicine have touched the
lives of nearly every person on the planet.
Yet considering the ubiquitous nature of these developments, it is
easy to see how many people take for granted the technologies and
practices that, at one point or another, almost certainly saved their
own lives or the lives of people they've loved.

The list below encompasses 10 advances in health and medical


practices that have changed -- and in many ways continue to change
-- the world today.

Vaccines

Throughout history, communicable diseases have had a tremendous


impact on human history. So too, then, has the development of one of
the most effective ways to defend against rampant viral infection --
vaccination.

Dr. Edward Jenner first introduced the idea of vaccinations in 1796,


when he successfully prevented a young English boy from getting
smallpox.

The concept of vaccination was propelled further by scientists such as


Louis Pasteur, and in the modern era, when large groups of soldiers
were successfully vaccinated in World War I and II against such
diseases as tetanus, diphtheria and typhus.

"Polio vaccine is one that people think of because it had such an


impact," said Dr. Jeffrey Baker, director of the history of medicine
program at the Duke University School of Medicine.

But from the global health standpoint, Baker said Jenner's introduction
of the smallpox vaccine may have had an even more significant
impact in terms of lives saved.

Surgical Anesthetic and Antisepsis

Without a doubt, surgery used to be a much graver proposition than it


is today. One of the chief reasons for this is that before the middle of
the 19th century, anesthetic simply wasn't an option.

That changed Oct. 16, 1846, when William T.G. Morton demonstrated
the mysterious wonder of ether -- a substance powerful enough to
dull the pain and agony that had long been associated with surgery.

But while anesthetic was a great advance in and of itself, another


advance that occurred at roughly the same time may have been even
more beneficial -- antisepsis, or the creation of a sterile surgical
environment.
"Anesthetic made it possible to operate on a patient without pain,"
Baker notes, "but without antisepsis they'd die anyway."

Clean Water and Improved Sanitation

Put them beside surgical advances and other cutting-edge


technologies, and public health measures don't look so sexy. But the
fact is that clean water and sanitation have likely saved millions --
perhaps billions -- of lives since they were widely implemented in the
19th and 20th centuries.

"It's something that's so important around the world and in America,"


Baker said. "It used to be that 15 percent of infants would die, and the
biggest reason for this was diarrhea brought about by unclean water
and milk."

Clean water and public health measures dramatically cut down the
incidence of such deadly water-borne diseases as cholera and
improved sanitation, drastically lowering the health impacts of
parasitic infections and other health conditions related to the
environment.

Antibiotics and Antivirals

As with vaccination, the advent of antibiotics hailed a new era in the


treatment of communicable disease.

Interesting, then, that the concept of antibiotics may have been


uncovered accidentally. In 1928, Sir Alexander Fleming left a petri
dish of Staphylococci bacteria uncovered and later noted that the
bacteria had been killed by a mold.

Upon further studying the mold, he discovered it was from a family


called Penicillium notatum. Others soon saw the potential uses of
what later came to be known as penicillin.

Today, antibiotics are used to treat a plethora of bacterial illnesses.


And today, researchers are developing antivirals -- most notably, the
AIDS-fighting antiviral AZT -- to deal with a host of viral illnesses as
well.

The Birth Control Pill

Arguably, few developments have had as profound a social impact as


the introduction of the birth control pill -- though its path to
widespread use has been a rocky one.
Although the Federal Drug Administration approved contraception as
safe in the early 1960s, it only became legal for married couples in
1965 and for unmarried couples in 1972.

But because of the Pill, countless women have been given control
over their own fertility -- a concept that created a social revolution.

"Thinking about how it has transformed women's lives, in terms of


family planning and the entry of women into the work force, its
impact has been significant indeed," Baker said. "It was the first-ever
lifestyle drug. It's not treating a disease, but it was making life better
for women."

Improvements in Heart Surgery and Cardiac Care

Heart disease remains at the top of the list of the country's killers.
Despite this, numerous important advances in its treatment have
made a considerable impact, extending and improving the lives of its
sufferers.

Not the least of these advancements is surgeons' ability to operate on


and repair the heart -- without putting the patient at an unreasonable
amount of risk.

"Maybe the breakthrough moment was the rise of the heart-lung


bypass, which made it possible to operate on the heart for more than
just a few minutes at a time," Baker said. "This was followed by
coronary artery bypass grafting, which is, I believe, a most important
procedure."

Randomized Controlled Trials

Another development largely unnoticed by the public at large, the


advent of the randomized controlled trial -- what many refer to as the
gold standard of medical research -- gave medical researchers an
important tool in determining which treatments work, and which do
not.

Randomized trials are conducted by dividing patient populations into


two groups, where one group receives the intervention to be studied
while the other does not. Examining the differences between groups
in these types of trials has ushered in an era of evidence-based
medicine that continues to guide clinical practice on a daily basis.

"I think this is huge," Baker said. "This is really what's changed how
we deal with cancer and lots of other disease, too. In the future we'll
look back at this as a huge step forward."
Radiologic Imaging

Before the development of radiologic imaging technologies, beginning


with the use of the X-ray, doctors were usually relegated to looking
only for external signs of injury or damage.

Today, the ability to peer inside the body and determine the cause,
extent, or presence of disease has revolutionized the very way
medicine operates and has saved countless lives in the process.

Much of the initial work surrounding the discovery of X-rays was done
by Roentgen, a German physicist in the late 1800s. Initially, they were
viewed as an invasion of privacy rather than a life-saving tool.

Its utility was soon realized, however, and many additional imaging
technologies eventually followed.

"CT scans didn't come into the picture until the 1970s," Baker said,
adding that this technology was brought to us by the company BMI --
the same BMI which had previously made a fortune off the British
band known as the Beatles.

Advancements in Childbirth

Up until the middle of the 20th century in the United States, childbirth
was considered to be the most feared part of a woman's life.

"Go into any old graveyard, and you always see a number of women
who died in their 20s," Baker said. "That was in a large part due to
childbirth."

With the advent of techniques in anesthesia, cesarean section, and


forceps delivery, the chances of a successful have pregnancy
improved, at least in developed countries. Unfortunately, many
resource-poor societies around the world still lag behind in this arena.

Organ Transplantation

Few surgical interventions today carry as much complexity -- or as


much ethical significance -- as organ transplantation.

"It's such a technically complex intervention that it's an amazing thing


that it can even be done," Baker said. "It ties together both surgery
and immunology."

The first successful transplant operation, which took place in 1954,


removed a kidney from one donor and installed it in the body of his
identical twin. Other organ transplants followed, including the first
liver transplant in 1967 and the first heart transplant in 1968.

Today, there are more than 90,000 people awaiting a transplant in the
United States alone -- a situation that also reveals the moral
considerations that come entwined with such techniques.

"It represented an important turning point in the field of medical


ethics," Baker said. "It really challenged physicians' ethic of 'first, do
no harm.'"

What's Next?

Considering the progress that has been made in years past, it is


tempting to view the state of health and medicine today as an
endpoint.

"Medicine has made it possible to deal with many conditions," Baker


said. "Our lives are longer. Still, we have to say in all honesty that our
control over chronic diseases is somewhat mixed."

Additional research into how best to stave off these conditions -- even
by delving into the secrets of the human genome -- could represent
the next hopeful steps toward healthier, longer lives.

"In the future, I think we will begin to see more and more applications
from genomic medicine, which will help us identify individuals at risk
for chronic diseases and allow us to intervene earlier," Baker said.

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