Re: Meeting Leukemia's Diagnostic Challenge - Cheryl

[Guest guest]

Hi Cheryl,

I hope the retreat was good, and thanks for this article. Some of you may

remember a post of mine a couple of years back on gene expression profiling

(GEP) - which is what this article is basically about. We truly are on the

brink of a new era of specific (molecular) diagnosis, and individually

tailored treatment. Let's all try to live till then, OK?

Cheers,

R

> Date: Fri, 26 Aug 2005 07:10:06 -0400

> From: " Cheryl-Anne Simoneau " <cheryl.simoneau@...>

> Subject: Meeting Leukemia's Diagnostic Challenge

>

> Good Morning folks,

>

> Back from a " Mini " Spiritual retreat and feeling refreshed and ready for a

> vacation next week.

>

> Good health to all!

> Cheers,

> Cheryl-Anne

>

> 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. "