Читать книгу Discovering Precision Health - Lloyd Minor - Страница 8

Imagine yourself in the not‐too‐distant future. Routine genomic screening tests, available at the time of birth, have shown that you have genetic variants that place you at high risk for pancreatic cancer in your adult years. Because of this propensity, you have elected to participate in a regular program of non‐invasive screening tests that are designed to provide early detection of any tumor development in your pancreas. Every six months you take a pill that will cause a pancreatic tumor (if one exists) to shed a novel synthetic biomarker that can be detected in the urine.

Several days after you take one of the early cancer detection pills, your home’s “smart toilet” automatically detects the synthetic biomarker in your urine. A device that is part of the smart toilet sends an alert to you on your smart phone, and to your primary care physician, who has your consent to receive information about these screening tests. To ensure the signal from the smart toilet is not a false positive, the signal is monitored in your urine over several days.

You follow the physician’s recommendation to undergo imaging studies with molecular tracers that will identify the location of the tumor and ensure the toilet device was correct. A pancreatic tumor is detected that measures 1 cubic millimeter and there is no evidence that it has spread to other sites. You are given targeted therapies, which activate your immune system and destroy the tumor while it is still at an early stage of development. You continue the plan of close surveillance and monitoring with an early cancer detection pill every six months.

As I will describe in the pages that follow, all the components of this scenario are within our grasp today. We are in the midst of a revolution in science and technology related to the mechanisms of disease and, of equal importance, to the determinants of health and well‐being. The impact of these advances and their broad dissemination are going to have a profound effect on our ability not just to treat diseases but to prevent them from developing in the first place. And in those instances when diseases cannot be prevented, they will be diagnosed much earlier and therefore treated much more effectively.

The example above illustrates just how transformative the results of this revolution are going to be. With pancreatic cancer today, there are no good tools for early detection, which means it is typically diagnosed much later in the course of tumor progression. In 80–95 percent of diagnoses, the cancerous tumor is locally advanced or metastatic [1]. As a result, 74 percent of all people with pancreatic cancer die within one year of diagnosis [2]. In 2017, this cancer resulted in the deaths of more than 43,000 people in the United States [3].

This vignette is emblematic of what the future of medicine should look like—and what I think it will look like—soon. Because for the first time in history, the world is starting to see the possibility of a new kind of medicine and health care. Instead of a race to cure disease after the fact, we can win the race before it even begins by preventing disease before it strikes—and curing it decisively if it does.

This approach is what we in Stanford Medicine have labeled “Precision Health” because it helps individuals thrive based on all factors specific to them, from their genetics to their lifestyle choices to their environment. It is based on the powerful idea that health care should promote health and wellness as much as it defeats disease.

Simply stated, the goals of Precision Health are to predict, prevent, and cure, precisely. And in that order, because more accurate prediction of propensity for disease will lead to more specific approaches for prevention. Even in cases where disease cannot be prevented altogether, diagnosing diseases much earlier in their course will mean that our ability to achieve cures will be greater than now. All too often today we identify diseases much too late to have the type of treatment outcome all of us would like to achieve.