At a recent visit to my rheumatologist, she mentioned that I should participate in a genetic study. This comment was made in relation to a conversation we were having about my displaying symptoms of both rheumatoid arthritis and ankylosing spondylitis. Behind this comment was the fact that every rheumatology patient seems to present symptoms differently and blood marker tests don’t always tell the complete picture. The idea is that more genetic testing is needed in order to better understand these diseases and to develop better treatments. This notion piqued my curiosity given my experience with RA coupled with my science background.
The very next week, I was fortunate to have the opportunity to tour a biotech research facility called the Institute for Systems Biology (ISB) which was founded by Dr. Leroy Hood. Hood was the pioneering scientist who invented computerized gene sequencing machines that enabled the unraveling of the human genome and forever impacted biomedicine and scientific forensics.[i] Today there are numerous scientists attempting to move towards a comprehensive approach to medicine based on genetics and biological systems. The goal is that eventually every person can have a detailed genetic sequence which is used to help with healthcare decisions. Even now, individuals can send in a tissue sample to have their genetic profile examined (for example – https://www.23andme.com). Dr. Hood recently coined the term P4 Medicine[ii] which is described as follows:
Healthcare is on the verge of a major revolution. The existing disease industry servicing passive patients with products and procedures based on large population averages was a monumental industrial age achievement; but this industrial age healthcare model has now reached the point of diminishing returns. P4 Medicine – i.e. medicine that is Predictive, Preventive, Personalized and Participatory — is emerging out of the convergence of systems biology, the increasing activation of networked consumers and the digital revolution in communications and information technology.[iii]
Anyone with RA can relate to feeling like a passive patient and being treated as averages. Diagnosis criteria and treatments are based on averages. Whatever works for the most is what is prescribed. But genetics and technology put us on the verge of busting out the pitfalls of the current system.
Anyone with a chronic disease is quite familiar with the current healthcare system that includes general practice physicians, specialist physicians, nurses, nurse practitioners, pharmacists, physical therapists, medical assistants, billing personnel, scheduling assistants, insurance providers, and numerous others. Oftentimes these people and their organizations don’t communicate well with one another. Each clinic has separate databases that houses detailed medical records. Insurance companies maintain comprehensive records on each patient but those records focus primarily on official diagnoses and treatments as related to billing. This disjointed system contains many roadblocks and is not designed with the patient’s best interest at heart.
I dream of the day when healthcare is predictive using genetics to determine the propensity for certain diseases thereby leading to preventative measures. Imagine knowing about a set of genetic markers for rheumatoid arthritis and then being able to receive treatment to prevent its insidious impact on the body. With each individual’s differences, detailed genetic information could lead to more personalized treatments. How many RA patients experience going through a litany of various chemical and biological treatments over the years? Having access to a complete, individual genetic sequence, coupled with technology based information and social networks would allow patients to become more participatory in healthcare decisions. During the tour of ISB’s facility, I was told of one local physician’s reaction…”This means that the way we currently do medicine is going to have to dramatically change!” Oh yes it will!
While all of these changes may not happen in my lifetime, I’m going to begin the process by asking my rheumatologist about participating in a genetic study.