Precision Medicine: Leveraging Large-Scale Health Data and Long-Term Follow-Up for Personalized Healthcare

Precision medicine is commonly understood as the design of disease treatment plans based on patients’ genetic information and individual-specific characteristics. Despite ongoing skepticism, if this vision were fully realized, would it not fundamentally disrupt current medical diagnostic and therapeutic practices? Accordingly, the National Institutes of Health (NIH) recently announced the recruitment of one million volunteers for a research initiative aimed at unraveling the secrets of precision treatment for diseases.Let us further understand the NIH Director’s interpretation of precision medicine: it relies on personal electronic health record information and big data from gene sequencing, as well as individual lifestyle and environmental factors.



ICurrent Status of Disease Treatment

The Director of the NIH stated, “When we seek medical care for an illness, we expect physicians to guide us on how to cure the disease and restore or maintain health. However, the treatment plans or recommendations provided by doctors are typically based on average therapeutic outcomes observed in patient populations, with no better means to clearly determine the optimal individualized treatment strategy.” In other words, we either “apply the same treatment regimen to all patients,” or we collectively “explore and seek therapies tailored to individual diseases.” If the goal is to pursue personalized precision medicine for disease treatment or health maintenance, existing scientific evidence indicates that factors such as individual genetic makeup, living environment and habits, personal behaviors, and dietary patterns all influence the maintenance of health, the precision of disease treatment, and ultimately, therapeutic outcomes.

IIWhat Can Be Done with Big Data from 1 Million Volunteers?

As stated in the NIH report on the Precision Medicine Initiative, “The NIH will establish a database of electronic health records and individual genetic data by enrolling one million volunteers.” Although these one million individuals may not represent all Americans, they largely reflect the demographic composition of U.S. society. A decade ago, such an ambitious plan was almost unimaginable; today, however, particularly as more Americans begin to pay attention to their health, recruiting one million or more volunteers for research initiatives appears increasingly feasible. Moreover, all participants will personally experience how to identify disease treatments tailored to their individual needs.

According to the NIH’s preparatory work overview, recruiting volunteers ranging from children to the elderly is not difficult. However, certain technical issues remain regarding specific details, such as how to obtain informed consent from children. Moreover, a recruitment cohort of this magnitude could nearly cover or represent the U.S. population. The project may not officially launch until 2016.

The NIH will design questionnaires to collect basic information based on the study protocol. The biological samples expected to be collected include blood and urine. The NIH aims to obtain volunteers’ electronic health records while strictly adhering to personal privacy protections and ensuring data security. Each individual’s disease and health records contain a wealth of important information that has long been overlooked. Most importantly, we hope volunteers recognize that this is not a one-time data collection or medical record retrieval effort; rather, it is intended to establish a long-term collaboration to track each individual’s disease progression and changes in health status over time.

To date, modern medical research has elucidated the etiologies, pathogenesis, and prognoses of many diseases. However, insufficient attention has been paid to health maintenance and the determinants of healthy longevity. Therefore, we invite more healthy volunteers to participate in this research program to help unravel the mysteries underlying human health and longevity.

Of course. As a research project involving all volunteers, including current patients, we will not participate in their ongoing disease treatment processes. Instead, we encourage them to continue following the treatment regimens prescribed by their physicians. In short, our aim is observation and follow-up rather than intervention, as the optimal intervention strategy, timing, and efficacy remain undetermined.

IIIExploring Personalized Treatment and the Challenges It Faces

All colleagues following the Precision Medicine Initiative and the NIH’s recruitment of one million volunteers for its research program share a common question: “How long will this research plan take to be fully completed and to answer the key question of precision medicine—namely, how can patients receive personalized treatments tailored to their individual conditions?”

The Director of the National Institutes of Health (NIH) candidly stated, “This is a highly complex issue. Take the Framingham Heart Study as an example: it has been ongoing for over 50 years (since 1948) and continues to this day. The insights gained from this project and our understanding of heart disease are immeasurable. Therefore, advancing personalized precision medicine is not a short-term research endeavor or a brief initiative; rather, it is a century-long strategic plan dedicated to ensuring the long-term health and well-being of the public.”

IVTechnical Support for Precision Medicine Research

First, there is the Electronic Health Record (EHR) system. One can imagine how burdensome and disorganized it would be to organize and query the paper-based health records of one million individuals. Therefore, electronic information processing and querying significantly enhance capabilities for organization and retrieval. Valuable information contained within these records—such as disease diagnoses, laboratory test results, medication treatments, and records of therapeutic outcomes—can be clearly displayed.

Secondly, laboratory testing technologies, particularly those for detecting and identifying genetic variations. While whole-genome sequencing remains prohibitively expensive, we have already established the correlations between specific genomic regions and diseases, validating the reliability and feasibility of targeted testing methods. More specifically, if only certain DNA fragments are analyzed in one million volunteers, the cost would be approximately $50 per person. This represents a significant and affordable reduction compared to the $1,000 per person required for whole-genome sequencing.

Finally, individual lifestyle and environment. Information on the impact of personal lifestyle and environmental factors on health and disease will be collected through questionnaires, with the aim of identifying correlations among these factors. For instance, issues such as current environmental pollution and food safety have clearly become concerns for everyone. However, there is still no convincing scientific evidence linking them specifically to particular diseases or changes in health status. This is one of the core focuses of precision medicine.

If China’s “Precision Medicine” research initiatives can also be implemented in such a down-to-earth manner, it will be a great blessing for the nation!

(Excerpted from the transcript of an interview between the NIH Director and NPR journalist Diane Rehm)
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