WOMEN Magazine: Personalized medicine will radically transform health care as we know it

Candace Waddell has developed a sixth sense for helping fellow patients.

When she heard an insurance company was refusing to provide a rare disease patient with access to a necessary treatment, Candace had a suspicion that other patients living with the same rare disease might be experiencing the same problem. So, she sprung into action, putting out a digital call for help.

“My snowflakes are stepping up like I knew they would,” explains Candace, who lives with myasthenia gravis, a chronic autoimmune neuromuscular disease. “We’re called snowflakes because each of our disease processes is different and cannot be replicated. Just like a snowflake.”

Every patient can learn a thing or two from the rare disease community. On a practical level, patients with rare diseases are experts in using online tools, such as Cancer Connect, to overcome geographic limitations. Together, they’re able to put up a united front against insurance companies.

On a deeper level, I was struck by the implications of Candace’s “snowflake” analogy. Soon we’ll all be snowflakes.

Maybe you’ve heard about personalized medicine on the news, or remember something about the National Institute for Health’s Precision Medicine Initiative. But, what exactly does “personalized or precision medicine” mean? More importantly, why are doctors, scientists, and tech geeks gushing with optimism?

What Is Precision or Personalized Medicine?

It is now understood that most cancers and many other diseases result from abnormal genes or gene regulation. The cause of these changes can be environmental, spontaneous, or inherited. By identifying the genomic changes and knowing which genes are altered in a patient, drugs that specifically attack that gene (or the later consequences of that gene) can be used to target the disease.

The greatest advances in precision medicine are in cancer treatment but other diseases will also benefit. Precision cancer medicine seeks to define the genomic alterations that are driving a specific cancer, rather than relying on a simple broad classification of cancer solely based on its site of origin. There is no longer a “one-size-fits-all” approach to cancer treatment.

The idea of matching a specific treatment to an individual patient is not a new one. It has long been recognized, for example, that hormonal therapy for breast cancer is most likely to be effective when the breast cancer contains receptors for estrogen and/or progesterone. Testing for these receptors is part of the standard clinical work-up of breast cancer. What is new, however, is the pace at which researchers are identifying new tumor markers, new tests, and new and more targeted drugs that individualize cancer treatment. Tests now exist that can assess the likelihood of cancer recurrence, the likelihood of response to particular drugs, and the presence of specific cancer targets that can be attacked by new anti-cancer drugs that directly target individual cancer cells.

Genomics Vs Genetics

Genomic tests are used to identify the specific genes in a cancer that are abnormal or are not working properly. In essence, this is like identifying the genetic signature or fingerprint of a particular cancer. Genomic testing is different from genetic testing. Genetic tests are typically used to determine whether a healthy individual has an inherited trait (gene) that predisposes them to developing cancer. Genomic tests evaluate the genes in a sample of diseased tissue (cancer) from a patient who has already been diagnosed with cancer. In this way, genes that have mutated, or have developed abnormal functions, are identified in addition to those that may have been inherited.

Personalized medicine is expected to radically transform health care as we know it. Our doctors will review our genetic characteristics, individual health factors, and body’s chemistry to determine the treatment that’s right just for us. It focuses on the uniqueness of each patient, rather than a one-size-fits-all approach based on age, disease type or health condition. With personalized medicine, we’re all snowflakes.

We’re already seeing the beginning applications of personalized medicine uses with immunotherapy, which use the body’s immune system to fight off diseases, such as cancer.

“Immunotherapy—using your body’s immune system to fight it— is genius,” explains Jeff Julian, an all-American college swim coach who is living with lung cancer. “My life is awesome, and it’s because of breakthroughs like immunotherapy.”

Individualized medicine holds tremendous promise, if we don’t crush it. Our current healthcare system —big and bulky—grinds patients through clinical pathways, value frameworks, and bureaucratic red tape.

If you have high cholesterol, you get a statin – even if your doctor recommends a new PCSK9 inhibitor. Why? Because the insurer’s pharmacy benefit manager has pre-contracted to supply that treatment in bulk. Short-term profits prioritized over a patient’s health.

Of course, personalized medicine has the potential to save money by eliminating the waste of treatments that fail first.

“If you pair the right person with the right drug,” Dr. Dhruv Kazi, a cardiologist and professor at the UC San Francisco, writes of personalized medicine, “then you can produce substantial savings.”

Healthcare financing needs to change for the era of personalized medicine, so does how medicines are reviewed by the Food and Drug Administration. Before a new drug is approved, it must go through extensive and rigorous clinical trials. A drug’s performance is compared against control groups and placebos with outcomes that are determined to be statistically significant.

When medicine is personalized to each patient’s body, how do you conduct a clinical trial? One person human trials – that’s a real idea gaining traction. We’ll need to rethink clinical trials to strike the right balance between patient safety and the hope, the chance, the opportunity for a cure.

Where will we be in 5, 10, or 20 years? It all depends on whether patients learn from those snowflakes.

Rare disease patients don’t share the same diagnosis, but they’ve learned to connect and speak with one patient voice. When one patient encounters a barrier to access, every snowflake takes action.

“I am just paying it forward,” Candace explains, “standing up for those that need a warrior.”

This piece was originally published at WOMEN magazine.