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Advancements in personalized medicine face several legal hurdles

Questions on genetic testing, patents arise

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When "Jayne" was diagnosed with Stage 3 B ovarian cancer in 2005, her doctor gave her a cocktail of chemotherapy drugs. The 53-year-old got better, but then had a recurrence in 2008 and was treated with the same drug again.

When cancer comes back, it's not the same as it was during primary diagnosis because it mutates after treatment. So Jayne's cancer continued to progress and her doctor tried different drugs. But her tumor had grown and was blocking her intestine, so she had to have surgery.

While the trial and error process continued, The Clearity Foundation, a nonprofit that uses molecular profiling to improve treatment options for ovarian cancer, got a tissue sample from her in 2010 and did advanced molecular diagnostics.

She was tested for certain biomarkers and Clearity was able to determine that based on her unique blueprint, a different drug may work better on her type of tumor. So she talked to her doctor about that option and he agreed to try it. Today she has no evidence of the disease.

Lisa Haile

That's personalized medicine at work — an emerging field that eschews the one-size-fits-all approach and taps genetic testing to provide targeted treatment options tailored for individual patients.

Clearity was founded by Laura Shawver, an ovarian cancer survivor. Executive director Hillary Theakston points out that ovarian cancer has an occurrence rate that is about one-tenth the incidence of breast cancer, so while there's been progress in treatment options for the more common cancers, that's not the case with less frequent ones.

"Twenty two thousand women are diagnosed every year and about 15,000 women die (of it) every year. We're still where we were 50 years ago in terms of diagnosis," Theakston said.

Ovarian cancer tumors are very different from patient to patient, which means they are likely to respond differently to drugs approved by the U.S. Food & Drug Administration or investigational drugs.

Hillary Theakston

"Your DNA is not the same as my DNA, so a drug that works for me is not going to work for you," said Lisa Haile, partner and co-chair of global lifesciences sector at DLA Piper.

Cancer treatment is one area with the most potential to benefit from advancement in personalized medicine, given the connection with genetic biomarkers and hereditary risks, but there are other areas like cardiovascular disease where testing for genetic variants has helped with treatment and drug dosage.

Companion diagnostics, or a diagnostic test used to predict the likely clinical effectiveness of a particular treatment or drug, can speed up the process and lead patients to the options that are right for them.

Haile explained how when time is essential, it gives patients an answer immediately and helps define the disease clearly, by telling them which drugs they should or should not be on.

"If you have six months to live, you don't want to spend three months trying a drug before realizing it doesn’t work,” Haile said. “One reason so many drugs fail in clinical trials is because the patients are not the right ones for the trial. If we knew whether they have the genetic biomarkers that will respond to these drugs or not, then the trials would go better and we'd have fewer failures."

As personalized medicine advances, it can open up opportunities not just for new therapeutics that match specific biomarkers, but also for existing drugs that have been shelved by big and small pharmaceutical companies because their efficacy was previously in question.

Lauren Dennis

"We can figure out where they fit in and how they can be effective. There are drugs on the shelves that should be revisited. The beauty of it is that a lot of them have already been through safety studies, so they could go to advanced trials with a subset of patients for whom they could work," Haile said.

So the tests would not only help patients, they could also potentially bring back shelved drugs to a niche market.

This is why genetic testing, the foundation of personalized medicine, is so important. If the tests get approved by the FDA or CLIA (Clinical Laboratory Improvement Amendments), then patients can get tested sooner and be placed in appropriate clinical trials so treatment can advance recovery.

But in reality, the process is backwards, with most patients undergoing the trial and error process Jayne went through. Patients often try different treatments that end up costing them or their insurance companies thousands of dollars, time and resources — and the worst part — while the disease progresses, reducing their chances of recovery.

This is because stakeholders often consider investing up front in the diagnostic tests as expensive, and don't recognize that there are savings to be had by doing the tests first before matching patients with the right treatment.

And companies developing these tests are finding that they may not be able to protect it with patents, as was the case with Prometheus Laboratories.

The Supreme Court told Prometheus in March that its patent for a blood test that helps doctors determine the proper dosage of a drug for autoimmune disease was not valid.

"So there's a lot of uncertainty in the legal community about whether you can patent a test or not,” Haile said. “The cases on gene patents and diagnostic testing have raised questions on whether you can patent these tests and if not, do you want to invest in developing these tests.”

Patient awareness about these options is limited, as is physician acceptance about the value of the tests. Outfits like Clearity are working on helping clinicians and patients understand how to take advantage of the tests.

The fact that some tests are neither definitive nor diagnostic when it comes to diabetes or heart disease, where genetic variants can either increase or decrease some one's risk, is one reason for the slow uptake in the medical industry, according to Lauren Dennis, a certified genetic counselor with the University of California, San Diego's Health System.

"I think why this technology hasn’t taken off quite yet is the difficulty in interpretation, patients' understanding and limitation of the actionable clinical information it can provide," Dennis said.

"Results can create patient anxiety or possibly provide false reassurance. I think our understanding of how these individual genetic variants affect disease will only continue to improve with advances in technology."

One other challenge is that there aren't enough therapeutic technologies that match individual biomarkers, once patients are tested.

Theakston thinks this will change, as patients take more control over their health care.

"Patient initiative will impact how this develops. When someone is fighting for their lives, the passion and motivation to try different options is very strong,” Theakston said. "So the patient community will drive growth in individualized treatments.”

-Nagappan is a San Diego-based freelance writer.

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