Personalized medicine starts to hit its stride

The flexible genome [pic from nature.com]

I recently attended a conference at Harvard Medical School on big data and translational medicine.  Translational medicine is the discipline that links scientific discovery (bench insights) to patient care (at the bedside, hence the term that is sometimes used..."bench to bedside").  The general idea is that we never have a truly clean slate of health.  We are conceived, born, live our lives and eventually die.  During this time, we are in a constant state of change. While we have  a solid set of genes in our personal genetic code, they are under considerable pressure from other elements such as regulatory genes and epigenetic signals that are influenced by an individual's internal and external environment.  Some of the changes wrought by these elements are permanent and others are transient but either way, they affect the expression of the our genes in real time throughout our lives and constantly nudge us towards disease.  Add to the mix DNA repair mechanisms that also become less effective as we age, and the scene is set for our gradual demise from before we are even born. At any given time, we have a number of mutations and damaged physiological systems that do not constitute enough for overt disease.  Over time, these effects multiple and at some point we will experience a symptom or two and eventually, a diagnosis.  By the time the symptoms appear, the disease has become quite complex and pervasive, and because of this it is much more difficult to treat. If it could be caught in the earlier stages where there are fewer factors involved, and fewer compensatory systems triggered, it could potentially be nipped in the bud. This is one major goal of translational medicine- to identify the unique signals that show disease or disease risk at a stage where treatment is likely to be more targeted and more successful.

Everything above is old news, but the conference revealed exciting new directions for translational medicine.  For the first time, I have hope that personalized medicine is really starting to become a reality.  Large data sets are being collected, not by physicians or pharmaceutical companies, but by patients.  Over 95% of these patients are allowing their data to be used for massive projects that will attempt to connect early signs and symptoms with the risk of various chronic diseases.  Linking seemingly insignificant phenotypic changes to chronic disease development will eventually allow serious diseases to be detected before they become fully fledged and more entrenched.  For instance, already we know that slow blink rate is related to Parkinson's Disease and this can be used as a flag to look for additional symptoms in patients who are at risk of  Parkinson's.  Whether medicines can be developed and given to patients at these very early stages remains to be seen, but a critical step is incorporating some of these phenotypic or 'patient-reported-outcomes' (PROs) into clinical trials so that the more subtle signs associated with disease can be used to monitor effectiveness of treatments in early stages.  Big data is crucial here, and that patients are willing to share their data at such an unprecedented rate is remarkable.  I have had ideas about epigenetic disease triggers, PROs as trial endpoints, and very early disease intervention for many years, and to see it start to come together as translational medicine is absolutely thrilling to me.
I believe we are on the edge of a precipice and that this science will now begin to accelerate on a logarithmic scale.  Astra Zeneca just signed a nice deal with PatientsLikeMe, which is a strong indication that personalized medicine is about to go mainstream.  I can't image a more exciting time to be in healthcare.  Now, if we can also figure out the economics of the system and make that work in favor of the patient versus the insurers, we would be firmly on the path to better health for all.

Guest blog by Kristy Dawson: Cancer patients embrace holistic methods

A recent turn in hospitals has allowed cancer patients and others dealing with illness to sometimes shy away from using conventional methods of treatment such as chemo and radiation. Specifically with cancer patients, an increasing number are turning to complementary and alternative methods of healing that are often based in holistic therapy options such as yoga, chiropractic care, and acupuncture among others.

Yoga has gained major popularity as an exercise option in the past few decades, but recently cancer patients have adopted it as one of the most used types of complementary/alternative therapy sessions. The use of yoga has allowed for those participating in conventional therapy sessions to cut down on common side effects such as nausea and dizziness. Some have adopted it as one of their alternative methods of therapy, as yoga can often be used to help improve range of motion, flexibility, and ease body pain.

Acupuncture has also been used as a way to reduce side effects of chemotherapy and radiation such as vomiting and nausea. Most of the patients who undertake acupuncture as an alternative or complementary therapy are suffering from major bouts with body pain. Acupuncture works to relieve the pain in the back area, as well as numerous other parts of the body.

Using meditation, hypnosis and other mind therapies are often critical to cancer patients. Mind and body connecting methods allow patients to alleviate some problems that are usually hard to counter act such as anxiety and stress. Meditation allows for the chance to free up time from schedules that often overflow with treatment and tests. Hypnotherapy allows patients the opportunity to alter behavior and emotions, while cutting down on stress and anxiety. This form can be crucial for patients who are having a very rough time dealing with their emotions following diagnosis.

The proof is in the stories of use for complementary and alternative methods of treatment. A great example of the impact these are having involves mesothelioma survivor Paul Kraus. This is a type of cancer in the lungs that evolves from asbestos exposure. Kraus has used a combination of strict dieting along with numerous alternative therapy methods such as yoga and meditation to defy expectations. Average life expectancy for the disease is usually between eight and 14 months, but Kraus is living today 14 years after what was expected.

Looking toward the future, alternative and complementary methods are likely to gain heavy popularity. As more and more doctors add in these methods as complements for routine therapy, their importance will take off in the medical community. 

Thank you to my guest blogger, Kristy Dawson! Kristy is a recent college graduate and aspiring writer from Florida. As a Health and Safety Advocate, she shares a strong passion for the wellness of others in her community. Kristy uses her writings to spread awareness of such issues to help others live the healthiest lifestyles possible.  If you want to contact Kristy, please e-mail me at spiral5@mac.com.