UNRAVELING THE GENOME AND EXTENDING THE HUMAN LIFE SPAN

The business and mission of the health care system will change with two radical scientific advances. The first is the unraveling of the human genome. There was a tremendous wave of expectation that the mere mapping of the genome would revolutionize medicine and create powerful new tools for intervening definitively in disease processes. My nonscientist's belief is that the results won't be felt until we've done a couple of generations of really hard work. Eventually, genetic information will produce powerful tools for affecting our health, but it is going to take a while.

The second advance is tinkering with the human life span. At the beginning of the twentieth century, a typical American lived to be 47; by the end of the century, average life expectancy was about 80. Most of the increase was the result of eliminating premature causes of death—such as infant mortality and childhood diseases. In the past, most human biologists believed that there would never be much more improvement because the maximum life span of human beings is hardwired into our genome or into the processes by which cells reproduce.

In 1998, discoveries in the processes of cell biology led to the hope that we were close to understanding one of the mechanisms that limit the viability of our cells and tissues and, therefore, the life span of our organ systems. Many gerontologists became convinced that if we could understand the hardwired limits on the capacity of our cells and tissues to reproduce and begin attacking some of them—declining hormone levels, oxidation, etc.—we could dramatically extend the life span of human beings. There is now serious discussion of people living to be 140 or 150 years old.

The stem cell, the Holy Grail of human biology, is the subject of an enormous political debate in Washington, because the principal source of stem cells is discarded embryos from in vitro fertilization. Buried in the software of a stem cell is the recipe for each tissue type in your body, as well as the assembly instructions for the organ systems that those tissues ultimately form. A lot of people believe that, once we master the instruction sets buried in the stem cells, we will be able to create, on demand, tissues from our own cells that can be used to repair damage to our organ systems from strokes, spinal cord injuries, and other causes. In combination with growth factors that our bodies produce naturally to encourage cells to grow, we will have the power to replace damaged tissues and, eventually, whole organ systems.

As our understanding of human genetics improves, our paradigm of vaccination will also change. Right now we think of a vaccination as something given to children to protect them against infectious diseases. Soon, however, we will be vaccinating people against chronic diseases, such as breast cancer, asthma, and, perhaps, arthritis. We will be able to vaccinate people any time during the course of the development of the disease. Not everyone will be given the same vaccine, however, because the tools of genetic prediction will enable us to distinguish between risks of disease for each individual all the way down to the level of nucleotide sequences. Instead of building blockbuster drugs to knock out diseases in whole populations of people, the pharmaceutical system will produce highly specific, genetically tailored responses to an individual's genetic risk. Many of these advances in genetics will not be the result of “wet work” (i.e., laboratory research) but of computer modeling and the manipulation of massive computer databases using high-performance computing.

COMPUTERIZED PATIENT RECORDS AND DECISION-SUPPORT SYSTEMS

The Gartner Group, which studies health care systems, has envisioned a computerized five-generation patient record:

• Generation 1 is a passive repository of clinical data based on information gathered manually and on paper.
• Generation 2 is the repository of clinical data plus an electronic version of the paper chart. On this level, passive alerts about drug interactions would be possible. Crude rules built into Generation 2 systems would suggest that doctors reconsider decisions if a deviation from standard practice were observed.
• Generation 3 combines the repository of clinical data, the electronic version of the paper chart, and orders entered by the physician. A Generation 3 record would be able to track patients across inpatient ambulatory settings and provide a full array of passive care alerts. If the patient's status changes, the system would send the doctor a “do you want to do X?” type of message, thus providing an undergirding for making clinical decisions.
• Generation 4 would make the leap from a passive system that mimics a record-keeping system to what might be called “groupware” for clinical decision making. Embedded in the system would be care pathways, work flows, and data on the outcomes of certain courses of action for a particular patient with a particular condition. Creating a Generation 4 record will be very expensive. It will require information based on thousands of hours of structured discussions by physicians regarding what they do and then review of emerging scientific literature on clinical effectiveness and to support clinical decisions. At this level, the patient's chart would become a living document that guides the care process; the system would become a full partner in the care process.
• Generation 5 would be an “intelligent” system capable of self-modification that has acquired knowledge of the context of the patient and of the cognitive style and work flow requirements of the physician or clinical team. With a Generation 5 system, physicians would have complete access to the information they need to make better decisions. Thus, the system would become a trusted source of new knowledge that could help physicians make decisions. The system would create enough options and possibilities for physicians to continue learning, thus encouraging the physician's development, as well as improving patient care.

INTERACTIONS BETWEEN PATIENTS AND THE HEALTH CARE SYSTEM

Changes in the clinical operating system will improve interactions between doctors and patients, who will not have to be in the same room, or even in the same time frame. Enterprise software will provide a patient's personal health record with information from the person's entire clinical history. Patients and caregivers will have a “dashboard” that enables them to control their interactions with the rest of the health care system. Thus, patients will be able to acquire knowledge not only from their doctors but also from the system about managing their own health problems. Once patients understand that this is possible, they will insist on being treated in institutions that have these capabilities.

Patients will hire care managers, particularly for the elderly in a household. Care managers will use Web-based tools to navigate knowledge domains to help make better decisions and get better results. For instance, we will have a search engine that will enable us to ask the questions we really want answered. For example, we could ask where the three most promising clinical trials for drugs that affect lupus are being done and for a link so we can find out about participating in a trial.

SUMMARY

Advances in medicine in the last 25 or 30 years—tools from electrical engineering, miniaturization, and less invasive surgery—have moved our understanding and our interventions closer to the origins of disease. In the nineteenth century, the health care system was focused on acute care—intervening in the late stages of disease and salvaging people from life-threatening events. In the twenty-first century, the health care system will focus on predicting a patient's risk for disease based on genetic screening and powerful clinical chemistry. The system will not only have therapeutic tools but will also have tools to change behavior and disease-management software to modify risk factors and, ideally, eliminate the risk before it progresses into an illness in the first place.

An array of powerful new tools will make our medical care system more humane and more responsive to our needs. But to liberate caregivers and patients from our current cumbersome processes that don't work very well and cost a staggering, even unconscionable, amount of money, we will have to do a tremendous amount of work to renovate the institutions and cultures of medical care.