Molecular Med focuses on diagnostics and the future of personalized medicine.

By Kevin Davies

May 12, 2008 | SAN FRANCISCO – More than 2500 attendees gathered at the Moscone Center for this year’s Molecular Medicine Tri-Conference, one of the flagship events in the CHI calendar. They heard a fine array of speakers on topics ranging from clinical research in Asia to pathway modeling and molecular diagnostics.

Many of the major presentations focused on personalized medicine. The opening act was a superb lecture from Harvard Business School’s Clayton Christensen on disruptive technologies in health care and personalized medicine.

Name almost any industry and Christensen cited the disruptive arrival new technologies brought about by innovation — from computers and cars to music and photography. In the early days of word processing, “the Intel 286 [chip] couldn’t match the pace of typing,” he joked. “Now, with the Pentium 4, most mainstream applications can’t use that power.”

The pace of progress is mostly incremental, but is punctuated by dramatic technological breakthroughs, such as the advent of CAT scans, MRI, and PET in imaging. Often the incumbents win — for example, GE, Siemens, and Philips continue to lead the imaging field. But when disruptive innovation is affordable and simple, the entrants nearly always win, said Christensen. The rapid demise of Digital Equipment is a case in point.

The impact of disruptive technologies is no less profound in health care, molecular medicine, and imaging, said Christensen. The advent of “molecular diagnostics enables precision medicine,” he said, allowing physicians to delineate conditions such as type 2 diabetes, which are in fact likely constellations of diseases presenting with a handful of common symptoms. (Christensen contrasted “precision medicine” with intuitive medicine — where much of medical practice lies still — and empirical medicine — evidence-based medicine where outcomes are probabilistic.)

Herceptin is quite predictably effective in targeting one third of breast tumors, a necessity before a truly preventative therapy can be developed, as has happened for cervical cancer.

“This will happen in next 15-20 years. The impact can be very profound,” said Christensen.

Christensen sees three types of business model in health care: 1) solution shops, 2) value chains, and 3) user networks. “Hospitals will become focused solution shops practicing intuitive medicine,” said Christensen. He pointed to the Mayo Clinic as an exquisite example, combining “the intuition of all relevant disciplines to see what’s going on” in a patient. Focused value chain hospitals will provide procedures after a definitive diagnosis, while user networks will take the dominant role in care of chronic diseases.

In another keynote presentation, the renowned medical geneticist Tom Caskey, now CEO of the Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases in Houston, said that new indications, expanded indications, and drug safety offered three key value propositions for the diagnostics industry. The value for patients (and insurers) would include increased therapeutic response, lower costs on no response (40% of patients derive no benefit from prescribed drugs), and improved safety, which costs $50 billion, or 50 lost drugs.

Caskey reviewed the molecular diagnostics landscape. He said that newborns are currently screened for dozens of diseases, and there has been tremendous progress in prenatal and adult screening for infectious diseases, breast cancer, and cardiovascular disease. Recent studies have identified several new genes that influence risk of coronary artery disease, such as the PCSK9 gene, which codes for a protease that interacts with and modulates the LDL receptor. Celera, Caskey said, is pushing the concept of a Genetic Risk Score to evaluate heart disease risk and identify new risk genes.

Caskey also pointed out that BRCA1 and BRCA2 variants can pre-symptomatically determine the severity of breast cancer. The greatest benefit, he said, could be avoiding chemotherapy, yielding large health care and morbidity savings. “That would be a courageous undertaking in the United States — to not treat based on genetic testing,” said Caskey.

Two decades of diagnostics developments were considered by the FDA’s Steve Gutman, director of the Office of In Vitro Diagnostic Devices. As of March 2008, he said there were 58 genetic tests, 82 newborn screening tests, and several dozen for infectious diseases. This year, the Secretary’s Advisory Committee on Genomics, Health and Society (SACGHS) will issue a major report on genetic testing, including regulatory oversight.

“The good news for personalized medicine,” said Gutman, is that “the technology is there… the Human Genome Project is there.” So is broad organizational commitment from the NIH and FDA. The bad news, however, is that biology and clinical science are complex and not always intuitive. A lack of method standards and inadequate mechanisms for data sharing are further problems on the horizon.

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 This article appeared in Bio-IT World Magazine.

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