Meeting Leukemia's Diagnostic Challenge

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Meeting Leukemia's Diagnostic Challenge

Tests that distinguish among the disease's many forms either cost too much

or don't exist. Dr. Torsten Haferlach may have a solution

Meeting Leukemia's Diagnostic Challenge Tests that distinguish among the

disease's many forms either cost too much or don't exist. Dr. Torsten

Haferlach may have a solution

Crusaders for personalized medicine are discovering that the single biggest

barrier to their quest lies in the mind-boggling complexity of disease

itself. For the last 21 years, internationally renowned leukemia expert Dr.

Torsten Haferlach has spent seven days a week, 18 hours a day, conducting

cutting-edge research into the disease and treating patients.

But over the last decade, the 46-year-old German's job has grown a lot

tougher. Huge advances in genetics and molecular biology have revealed that

leukemia, a cancer of the blood and bone marrow, is not just one disease but

four. Within these exist 50 subtypes, each with its own unique genetic

signature -- and requiring a different prognosis and treatment.

BUDGET LIMITATIONS. As a result, testing for leukemia is complicated,

expensive, and often inaccurate. The best labs rely on as many as a dozen

different, labor-intensive technologies, all of which require highly trained

specialists. Even so, perhaps 50% of patients are misdiagnosed in regard to

subtype.

Part of the problem stems from the steep cost of the various technologies

used to diagnose leukemia today. Limited by their budgets, labs use only a

handful of diagnostic methods at best.

Take chromosomal analysis. Viewed as crucial in helping doctors choose the

right therapy for leukemia patients, it costs several thousand dollars per

patient and calls for highly experienced technicians to interpret the

results. Because of the price factor, fewer than 10% of leukemia patients in

the U.S. undergo it, says Dr. Schoch, a cytogeneticist and

Haferlach's research partner.

ZEROING IN ON SUBTYPE. This will soon change, asserts Haferlach, who

recently started the Munich Leukemia Lab after seven years of running one of

the world's largest leukemia diagnostic labs, at the University of Munich.

He's working with Switzerland's Roche Diagnostics to develop a new genetic

test that promises to dramatically improve the diagnosis and treatment of

leukemia by offering the first detailed picture of the specific genetic

defects behind each of the subtypes.

Using a tiny silicon chip from Santa Clara (Calif.)-based Affymetrix (AFFX

<javascript: void showTicker('AFFX')> ) and a drop of a patient's blood or

bone marrow, the chip simultaneously screens up to 400 genes implicated in

leukemia and finds the exact variations that cause the different subtypes.

In clinical studies, the test has proved more than 95% accurate. Roche

expects to launch the test in Europe by the end of 2006.

FEWER TRANSPLANTS. Although no price has been set, it will likely be much

cheaper and faster than existing diagnostic methods, which cost an average

of $2,400 to $4,800. Instead of waiting a week or more, patients would get

their results within 48 hours. Haferlach believes this advance alone could

make the difference between life or death for many patients. " You don't have

time to waste in diagnosis, " he says.

Getting the diagnosis right the first time also will help health-care

providers and patients save money by avoiding unnecessary or inappropriate

treatments. And considering bone-marrow transplants, a commonly used

leukemia treatment, cost around $260,000, savings could be substantial.

The genetic test will not only provide more rapid and accurate diagnosis of

the subtypes with which researchers are familiar but also eventually be used

to identify new ones, says Haferlach. Armed with that knowledge, scientists

can begin to develop targeted drugs designed to treat each of the various

subtypes.

ONE PATIENT, THREE CANCERS. The knowledge of the specific genetic mutation

causing chronic myeloid leukemia, for instance, led to the development of

the Novartis (NVS <javascript: void showTicker('NVS')> ) breakthrough drug

Gleevec four years ago.

Such a test represents a huge advance in diagnosis, especially for patients

with no clear distinction among the various subtypes. Take Haferlach's

patient Hermann , the 68-year-old former music director of the

Phoenix Symphony. In 1999, he was diagnosed with severe aplastic anemia, a

precursor to leukemia.

A few years later, his disease had evolved into a combination of three

different ones, including acute myeloid leukemia, which can cause death

within weeks without aggressive chemotherapy. has lived nearly three

years without it, taking a daily cocktail of 10 different drugs.

SUCCESS AND GRATITUDE. " Because he seems to have three different diseases,

I knew that going in with all guns blazing and giving him chemo could hurt

or even kill him, " Haferlach explains. " Without having the kind of detailed

analysis we are able to do here, other doctors might have given him chemo

just to do something. "

Haferlach is confident that the gene test will enable doctors to accurately

diagnose even complicated cases such as 's. Until then,

remains one of the lucky ones. " Dr. Haferlach is my personal hero, " he says.

" I owe him my life. "