The scene is common: a patient visits a doctor. It could be a routine check-up. It could be for a specific concern. It could be simply for a vague sense of unease, a sense that something just doesn’t feel right. The doc examines the patient, asks questions, pokes and prods, runs tests. Most of the time, it turns out to be something easily treatable, or even something that will be cured with a little reassurance and the tincture of time. But in some cases, an estimated 1.6 million cases per year, the diagnosis is one of nightmares: cancer.

One such case was that of San Diegan Laura Shawver, who, in 2006, was found to have a grapefruit-sized mass on her left ovary. It turned out to be ovarian cancer. Shawver, a scientist who spent much of her career in the pharmaceutical industry studying cancer and developing treatments, knew the prognosis was not good. Because the symptoms of ovarian cancer are often vague and nonspecific, more than three quarters of newly diagnosed ovarian cancers are advanced and have spread, and of those, 70 to 90 percent will recur. The five-year survival rate for advanced ovarian cancer is an abysmal 25 percent. Treatment generally involves surgery to remove masses and chemotherapy to treat residual disease.

As a scientist, Shawver immediately began considering her treatment options. What she found was startling: despite medical advances, ovarian cancer patients were treated essentially the same way for the past 40 years. Her years of cancer research showed her that individual cancers are often very different despite a similar appearance under the microscope, that each one has a “uniqueness” factor, that there is no “one size fits all treatment” for cancer. And because she knew that the vast majority of ovarian cancers recur despite the standard treatment, it made sense to analyze her particular cancer further, to utilize a new technique called “molecular blueprinting,” to identify the precise genetic characteristics that would allow an optimized approach to designing a precisely targeted treatment. Yet Shawver found no commercial lab in the United States was profiling ovarian tumors. Only the most common cancers — breast, lung, colon — were the focus of genetic testing.

As a result of her experiences, Shawver started the La Jolla based Clearity Foundation to help lead the way to a new approach to ovarian cancer. Clearity works to coordinate ovarian tumor blueprinting at minimal or no cost to the patient. Insurance will often pay part of the cost, which can amount to $10,000 or more, with financial assistance through donations and grants available to cover the remainder. Once the blueprint is available, Clearity assists patients in enrolling in appropriate clinical trials designed to optimize treatment for their particular tumors. Clearity then maintains a database of molecular profiles and treatment outcomes to assist future patients and advance the scientific knowledge of ovarian cancer and its behavior.

Ovarian cancer is considered an “orphan disease.” According to the National Institutes of Health, an orphan disease is defined as a disease that affects fewer than 200,000 Americans at one time. Approximately 22,000 new ovarian cancer cases are diagnosed per year in the United States, less than 1/10th as often as breast cancer. “With common cancers, there is more data, along with collective experience, to develop guidelines for treating these diseases,” says David G. Pfister, M.D., chief of head and neck oncology at Memorial Sloan-Kettering Cancer Center in New York City in an MSNBC article. “The more you see something, the more experienced you get at dealing with it. We know if one drug works better than another and are able to understand the course of the disease.”

With orphan cancers, most physicians and patients have no blueprint.

While standard treatment regimens are developed over the years, with rare cancers it is much more a guessing game based on limited studies and anecdotal evidence. With much smaller pools of potential patients, there is limited financial incentive for pharmaceutical companies to develop new therapies. Diagnostic tests are difficult to develop and validate because there are far fewer patients to test. Because these orphan diseases are relatively rare (some much more so than others), a physician may see few, if any, cases of a particular cancer over the course of a career, garnering little practical experience in treatment.

Patients, already shocked by the diagnosis, may find little comfort in their options. Treatment options may often be based on how well a drug works on another, more common, cancer with similar characteristics. They seek the sage advice of their doctors only to be left with theories about what might work.

Is it right and fair to focus most research and development efforts on the common cancers while seemingly ignoring the rare ones? After all, the most common cancers — lung, breast, prostate, and colon — account for nearly 50% of all new cancer cases. Some will say we must focus our resources where it has the potential to benefit the greatest number. Yet what about that other 50%? Pharmaceutical companies will argue that the cost of treatment development is far too expensive to focus in areas with far too few patients to promise a return on their investment. They have a point considering the cost of bringing a new drug to market may approach $1 billion or more.

In response, many patients start foundations with a particular focus. Known as “venture philanthropy,” patients put up some cash and seed promising projects, often shifting the course of research into questions likely to lead to new therapies for their own diseases. That is not to say the entire burden for focusing efforts is left to the patients themselves. The FDA Office of Orphan Products Development’s mission is to assist in research and development of products that show promise for the diagnosis and treatment of rare diseases. The program has enabled the development and marketing of more than 350 products for rare diseases since 1983.

Even if there are treatment options available that have been shown to be effective in some cases, is it the right approach to select a treatment that, while acceptable in general treatment terms, might not be the most effective choice? The promise of personalized medicine has been touted for years, and Shawver’s efforts at providing the diagnostics necessary to optimize treatment against a particular tumor are certainly a step in that direction.

The cost is daunting. And there is certainly no guarantee that insurance will pay for testing, especially if there are few studies that prove the testing provides results. But what is the cost of choosing a treatment plan that will ultimately prove to be ineffective? Will a patient have the opportunity to try another treatment? Will that second one prove effective?

In a PBS interview discussing the future of cancer treatment, Dr. John Mendelsohn, president of the MD Anderson Cancer Center in Houston, Texas, states convergence of knowledge about cancer and its causes and behavior, technology enabling the profiling of particular tumors, and the development of drugs that target the specific molecular perturbations present within a particular tumor is bringing personalized medicine to the forefront. By some accounts, truly personalized medicine may be decades away. But the efforts of Shawver and the Clearity Foundation show that the future is now.

Greg Faulkner lives in San Diego and writes as a member of the San Diego Center for Ethics in Science and Technology Writing Group.

The Reuben H. Fleet Science Center and the San Diego Center for Ethics in Science and Technology will be hosting a free public forum to discuss issues of personalized medicine. RSVP to join the conversation on Tuesday, July 19 at 5:30 p.m.

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