Michael Leavitt, secretary of the Department of Health and Human Services late last month outlined new department initiatives for achieving gene-based medical care, combined with health information technology (HIT). He "branded" this combination as "Personalized Health Care" in a speech addressing the annual meeting of the Personalized Medicine Coalition (Washington).

Timed with that meeting, HHS introduced a draft report of the Secretary's Advisory Committee on Genetics, Health and Society, titled "Realizing the Promise of Pharmacogenomics: Opportunities and Challenges." The draft report is now available for public comment until June 1.

The expectation of the HHS is to encourage and attract public response to the report, with that input then used to develop a final document. The committee expects the work to be completed by 2008.

"Personalized healthcare will combine the basic scientific breakthroughs of the human genome with computer-age ability to exchange and manage data," Leavitt said. "Increasingly, it will give us the ability to deliver the right treatment to the right patient at the right time — every time."

At the meeting, Leavitt outlined initiatives both already under way and new initiatives designed to build a foundation for personalized healthcare — or what until now has usually been termed "personalized medicine" — and to ensure that genetic medical information and electronic information technology are used in such a way to protect patient privacy. (Still another variation on this theme has been dubbed "predictive medicine.")

Under the heading of the "promise" of personalized healthcare (PGx — the G apparently related to the gene-based approach), the hope is that, ultimately, the delivery of healthcare — from preventive medicine to diagnostics to treatment — can be customized to each patient's needs, based on genetic make-up.

In the report, PGx is called "an emerging field," and it notes that "the instances of translating PGx into practice are few to date."

Among those instances — and perhaps the most well-known – is the understanding that women with a certain genetic factors are more likely to succumb to a particular form of aggressive breast cancer.

According to a report by the Personalized Medicine Coalition, women with HER2-positive breast cancer do not response well to standard therapies.

"Development of an antibody drug — Herceptin (trastuzumab) — that specifically inhibits the HER2 receptor has greatly improved the survival rate of women with this deadly form of cancer," the report said. Also, molecular diagnostic tests are available to identify those women who will respond successfully to the drug by measuring either HER2 protein levels or "gene copy" numbers, the report says.

The report outlines the short-term benefits of PGx, including the expectation that personalized medicine could eliminate adverse drug reactions (ADRs). In 2001 these affected an estimated 2.2 million people and caused up to 106,000 deaths. Citing various studies, the coalition said that the economic burden associated with ADRs is "substantial," and it estimated related costs reaching $177 billion earlier in this decade.

Another hope for personalized healthcare as it relates to drug utilization is increased effectiveness of care. That's because, the report says, of 14 major drug classes, seven have shown effective patient response rates of less than 40%.

Many doctors, as many patients already know, currently must approach drug therapy on a "trial-and-error" basis.

"While current methods of "trial and error" prescribing for determining the appropriate drug and dosage for particular patients is adequate and minimally harmful for many drugs, they can be inefficient, expensive and occasionally detrimental to patient health," the report says.

The long-term benefits of PGx is expected to be reduced burden of disease and increased economic efficiency to the healthcare system, as well as removing disparities in access to care, according to the report.

The study notes that "the current U.S. healthcare system tends to align toward short-term problems rather than investing in care that can be economically efficient in the long-term." Additionally, the study suggests, some chronic and complex diseases vary in the success of management, thus producing a longer range economic problem.

Health care that is personalized also has implications for drug development and diagnostic development — when combined in concert as "companion diagnostics."

Of the new initiatives outlined by Leavitt, one is the FDA's Critical Path Initiative which is organizing work across 76 science and regulatory areas to improve product development, especially for gene-oriented drugs and diagnostic tests.

"Regulatory guidance on the co-development of drugs and diagnostic products, which is an important stepping stone for gene-based medical care, will be published this fall," the HHS report says.

The department's report also said the Centers for Disease Control and Prevention (CDC; Atlanta) has worked with the National Cancer Institute of the National Institutes of Health to define the "leading 100 genetic variants of public health significance." The CDC will employ its National Health and Nutrition Examination Survey to determine how common those variants are in the U.S. population, important information for researchers in these areas.

These results are scheduled to be released this summer, the report says.

"In the future, we'll understand diseases at a new level," Leavitt said. "We'll know them as gene- or molecular-based diseases. And that will give us new kinds of treatments that will be effective for both the very specific condition and the individual patient."

Not surprisingly, the Personalized Medicine Coalition, formed in 2004, expressed its support of the HHS Personalized Health Care Initiative.

"This initiative focuses on building a system that can deliver the best possible medical outcomes for patients by providing information to help clinicians and patients choose more optimal therapeutic approaches," said Edward Abrahams, PhD, executive director of the coalition.

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