One of the principal buzzwords used to describe the future of health care, just visible in the squinty distance, is “Personalized Medicine”. The idea is that the vast data sets collected with high-throughput “-omics” technologies (genomics, proteomics, metabolomics, etceteraomics) will allow future physicians to select from a quiver of highly-specific treatments to tailor therapy to the particular patient in question. Since Personalized Medicine would be targeted to match the molecular features of an individual’s disease process, Personalized Medicine is touted as being more effective and with fewer adverse effects than our current “one size fits all” approach to most disorders.
Although even the architects of Personalized Medicine would caution that no drug can be considered a magic bullet, they do envision a new pharmacopeia with unique drugs for each molecularly-defined subtype of disease. One disease, say, lung cancer, or to be more up my alley, lupus, would be split into many diseases. Lung cancers, traditionally lumped together on the basis of their clinical characteristics and appearance under the microscope, would be subdivided into tumor-types with a given profile of genetic and epigenetic aberrations. Lupus, an autoimmune disease that results from a variety of different immunologic abnormalities and environmental interactions, would be considered for the purposes of therapy to be multiple diseases. As the definitions are made more precise, they would identify a smaller group of patients; importantly, the resulting diseases become progressively more rare. Personalized Medics are “splitters” and if the process is pursued to the fullest, eventually every individual’s disease will be unique in the medical universe and will require unique treatments.
Meanwhile, as biomedicine staggers closer towards the horizon of Personalized Medicine, the care delivered by our current system has never been more impersonal. The lack of reimbursement for, and emphasis on, preventative care has led to a shortage of primary care physicians and has made it tough to find a general practitioner, OB, or pediatrician in many parts of the country. Due to the problem of health uninsurance and poor access to preventative care, many folks receive all of their health care through emergency room visits. Health care visits are increasingly one-off encounters between providers and patients that are being conducted without the benefit of past context or a personal relationship. After the interaction, doctors and patients are unlikely to ever lay eyes on each other again. I wonder how many people have an actual relationship with a physician that they can draw on when a problem comes up. Although I know better, I have not made the effort to establish care with a new doctor since moving to Texas ten months ago. It will only become harder to know and be known by a physician unless there is significant action to address the perverse reimbursement incentives that favor invasive procedures and expensive testing over discussion, education and consultation.
I would contend that the shortcomings of our health care system have more to do with the “Impersonalized” way that health care is dispensed, rather than a lack of “Personalized Medicine” technologies. An investment in technology without systemic reform and strengthening of preventative care will leave us with a more unequal system that will be less prepared to fulfill the needs of patients.
Last week, a mother of a ten-year old girl with a severe case of juvenile arthritis told me that because of the $900 monthly co-pay, her daughter stopped receiving weekly injections of Enbrel, a monoclonal antibody drug that is FDA approved for the girl’s condition. Her arthritis was active, painful, and physically limiting and putting the inflammatory condition in to remission may now be more difficult. Although not a perfect example of future Personalized Medicine drugs, Enbrel, and its sibling TNF inhibitor drugs, were developed in the early ‘90s and have been found to be effective in treating a number of inflammatory conditions including arthritis and psoriasis. The therapeutic indications and number of patients taking Enbrel have grown since initial FDA approval in 1998 and sales in 2010 alone amounted to $3.2 billion. Inflammatory arthritis now has its own celebrity face. Phil Mickelson was diagnosed with Psoriatic Arthritis in the lead-up to golf’s 2010 US Open and now credits Enbrel to controlling his disease and restoring him to championship form.
The TNF inhibitors have revolutionized the treatment of juvenile arthritis, as my mentors who trained and practiced in the pre-anti-TNF therapy era often remind me. The concern is that the price tag on new Personalized Medicine drugs will be out of the reach of Medicare/Medicaid and cost distribution through private insurance will further burden the overall health care system. Companies must recoup the $500 million to $1 billion outlay necessary to see a new drug through years of R+D, costly clinical trials, and FDA approval. The economics of orphan (rare) diseases dictates that drugs are priced according to the size of the patient market, putting annual treatment into the tens of thousands per patient with an unusual condition. With assistance from the manufacturer, we will be able to reduce my ten-year old patient’s co-pay and get her back on treatment. How the health care system will pay for a whole new generation of high-tech, small-market drugs remains to be seen. Putting aside cost, it is a very real concern that these new drugs will not actually translate into improved quality of life outcomes for patients (for just one high-profile example, see the controversy over Avastin, a drug that was approved by the FDA on the basis of a trial that showed that it could extend life for patients with metastatic colon cancer for an average of 4.7 months at a one-year cost of $100,000).
The health care system of our grandparents’ generation and our parents’ youth lacked some of our more sophisticated understanding of disease. The physicians of that prior era had fewer options in the treatment tool box. What that system did offer was relationships, the great strength of the Original Personalized Medicine. Long-term and consistent relationships between doctors and patients kept the individual’s big picture needs and desires at the center of all decision making. If we continue to invest only in technology and not in relationships, socioeconomic disparities in health care will grow and our system will be no more effective in delivering what patients really want: to be listened to, to understand the options in front of them, and to work through decisions and their consequences with someone they know and trust.