The Re-emerging Concept of Personalized Healthcare

Li Hui Xu; Henry Zheng; Daniel D Sedmak; Wolfgang Sadée


Personalized Medicine. 2008;5(5):457-469. 

In This Article

Personalized Healthcare Models in Academic Institutions

Renewed emphasis on personalized healthcare stems from the rapidly growing availability of biomarkers derived from the -omics sciences. With increasing ability to assess future risk, response to therapy and long-term treatment outcomes, focus has shifted to early treatment and prevention. This is reflected in numerous evolving centers entitled ‘Predictive Medicine', ‘Preventive Medicine' and ‘Personalized Healthcare.' Currently available therapies could be highly effective if applied at the earliest stage possible, in nonsymptomatic individuals. However, most of our healthcare resources target advanced complex diseases that respond poorly to therapy. A logical extension of the ‘treat-early' trend is to ask how to define wellbeing and how to optimize health, requiring a new approach to define health by criteria other than the absence of disease.

Academic institutions all over the world are developing programs designed to implement personalized healthcare. In the USA, a number of academic, nonprofit and industrial institutions have jump-started centers that emphasize different aspects of the personalized healthcare agenda. The following provides a summary of some of the leading programs.

Harvard University & Partners Healthcare System Center for Genetics & Genomics

Harvard Medical School (MA, USA) and Partners Healthcare System (MA, USA) established the Center for Genetics and Genomics in 2001.[102] Research programs focus on mammalian genetics and informatics, with particular emphasis on the discovery of genes involved in common disorders. The center's research intersects with several disease-specific research programs at Harvard Medical School and Partners, such as cardiovascular disease, cancer, pulmonary disorders and neurologic, neurodegenerative and psychiatric illness.

The center provides an infrastructure that promotes genetics and genomics research, as well as the clinical application of new discoveries, featuring the following components:

  • Genome center, which focuses on large-scale genomic sequencing;

  • Genetics consultation service, which guides genetic study design and phenotyping;

  • Genotyping center, which provides high-throughput genotyping;

  • Genechip and microarray facility and proteomic facility, which performes mRNA and protein expression profiling;

  • Harvard Center for Physiological Genomics, which develops functional genomics.

These components together form a critical mass of an interconnected foundation of support and synergy for personalized healthcare research and development, illustrating the extensive resources needed to advance research in personalized healthcare.

Emory University Predictive Health Institute

With a strong focus on health rather than treatment of disease, the Predictive Health Institute in Emory (Atlanta, GA, USA) is a joint development between Emory University and the Georgia Institute of Technology (Georgia Tech; GA, USA). Following conceptual and strategic planning in early 2005, the Emory–Georgia Tech predictive health initiative was formalized as one of the three key directions in science and technology for Emory. The organizational resources – Emory University, The Woodruff Health Sciences Center, Georgia Tech, the Centers for Disease Control and Prevention, the Carter Center, the American Cancer Society and the population served by Emory HealthCare – together compose an environment rich in intellectual, scientific, technological and human resources. The goal is to develop and implement a new approach to healthcare, integrating diverse resources. Emory's unique approach to personalized healthcare focuses on health, not disease, addressing generic processes that characterize health, deviations from which indicate loss of health but are not disease specific. The power of this concept derives from the implication that generic biomarkers could predict risk for a host of diseases arising from an unstable health status. As a result, the task of developing the analytic tools critical to predicting health is distinct from the ‘one marker–one disease' concept, but such biomarkers could be broadly applicable. Emory's investment in ‘predictive' medicine has the potential to set new standards for the nation's struggling healthcare system.[103]

Duke University: Institute for Genome Sciences & Policy

The Institute for Genome Sciences and Policy is Duke University's (NC, USA) response to the needs of genomic medicine, playing a key role in addressing the scientific and ethical issues surrounding this new practice of medicine. This model is heavily weighted towards preventive medicine at the clinical end and genomics at the other, while including many non-medical fields such as law, policy, ethics and sociology.

According to Ralph Snyderman of Duke University Medical Center, a solution to improving health is to deliver prospective care, particularly as it relates to the prevention, minimization and management of chronic disease. Prospective healthcare is the ability to predict risk, identify processes early and intervene successfully. The center plans to coordinate with private insurers, the Centers for Medicare and Medicaid Services and large business organizations to create initial projects that test proof of concept. Furthermore, Duke utilizes its employee population to build a prospective medicine model utilizing personal health ‘coaches' to assist patients in successfully implementing their personalized health plan. The formal collaboration between Duke University and the Center for the Advancement of Genomics is intended to create the first fully integrated practice of genomic medicine, and designed to avoid the onset of major diseases for which individuals are found to be genetically predisposed.

University of Pennsylvania: Institute for Translational Medicine & Therapeutics

The Institute for Translational Medicine and Therapeutics (ITMAT; PA, USA) supports research at the interface of basic and clinical research, with a particular focus on the development of new and safer therapeutic entities. ITMAT includes its own faculty and basic research space, the former General Clinical Research Center, which has been integrated with that of the Children's Hospital of Philadelphia, PA, USA, to form the Clinical and Translational Research Center. ITMAT also hosts an expanding repertoire of cores, programs and centers designed to support research endeavors between proof of concept in cellular and animal model systems across the translational divide into proof of concept and dose selection in humans. Educational programs relating to translational research, including a newly founded Masters in Translational Research, are also housed within ITMAT.

The objectives of ITMAT are:

  • To provide an intellectual home and core critical mass for those who pursue translational research;

  • To expand the number of faculties pursuing translational research at the University of Pennsylvania through direct recruitment and enhancement of recruitment packages of any academic entity;

  • To expand this critical mass by education of existing faculties in translational research;

  • To develop as a single point of contact for the University of Pennsylvania investigators seeking information and support to pursue translational research and for outside agencies wishing to engage with the University of Pennsylvania in this area.

The Institute for Translational Medicine and Therapeutics has expanded to include investigators focused on clinical and translational research in all schools at the University of Pennsylvania, the Children's Hospital of Philadelphia, the Wistar Institute and the University of Sciences in Philadelphia. These partner institutions competed successfully for the Clinical and Translational Science Award funded under the NIH roadmap, designating ITMAT as the academic home for the program.

University of North Carolina: Institute of Pharmacogenomics & Individualized Therapy

The Institute of Pharmacogenomics and Individualized Therapy (IPIT) at the University of North Carolina (UNC; Chapel Hill, NC, USA) has been formed as a collaborative effort of the Schools of Pharmacy, Medicine, Public Health and Nursing, with substantial support from the Lineberger Comprehensive Cancer Center and the Carolina Center for Genome Sciences. Its approach is to encourage interdisciplinary bench-to-bedside research, but with greater emphasis on bedside to clinic through the development of individual treatment tools in the context of strategies for economic assessment, integration into health systems and attention to medical decision making. Areas of research that are key to this effort include:

  • Preclinical pharmacogenomics

  • Policy and ethics

  • Applied technology/laboratory-based medicine

  • Clinical pharmacogenomics

  • Medical decision making/outcomes

  • Phenotype-driven therapy

  • Evidence-based medicine

  • Pharmacoeconomics

The Institute of Pharmacogenomics and Individualized Therapy will also offer the services of core facilities in molecular genomics, cellular phenotyping and bioinformatics to add to the core facilities already existing at UNC. IPIT's interdisciplinary team of investigators from UNC's Schools of Pharmacy, Medicine and Public Health, as well as experts from the Lineberger Cancer Center and Carolina Center for Genome Sciences, will focus on generating clinical data to support the economic, regulatory and clinical usefulness of pharmacogenomics, reducing obstacles that, until now, have slowed the progress of pharmacogenomic therapy into practice. IPIT researchers engage in taking genetic-guided therapy from ‘bench to bedside to clinical practice' by undertaking research on basic marker discovery, pharmacoepidemiology, clinical assessment and outcomes, economic assessment and integration into health systems.

Translational Genomics Research Institute

The Translational Genomics Research Institute (TGen; AZ, USA) focuses on developing early diagnostics and guided treatments using the latest developments in personalized healthcare research. Founded in 2002, TGen facilitated relocation of the International Genomics Consortium headquarters to Phoenix (AZ, USA), serving as its companion research institute. TGen focuses on applying genomics to human tumor samples, generating a publicly accessible database (after de-identification) that profiles genetic changes during cancer progression, thereby enabling the discovery of new targets for prevention and therapeutic strategies against cancer. TGen focuses on assembling its own genomic research platforms to translate genetic information of complex diseases into new diagnostic tests and innovative therapies to battle cancer and other life-threatening and debilitating diseases.

Institute for Systems Biology

The Institute of Systems Biology (ISB) of Seattle (WA, USA), cofounded by Alan Aderem, Ruedi Aebersold and Leroy Hood, is not affiliated with an academic institution, but displays some of the characteristics of academia. The institute is a purposely small, focused, interdisciplinary group of scientists. Scientific areas of expertise include biology, physics, chemistry, computing, mathematics, medicine, immunology, biochemistry and genetics, making this a technologically broad interdisciplinary group. The work focuses on developing new technologies in genomics and proteomics, targeting predictive, preventative, pre-emptive and participatory medicine.

The institute has emerged on the basis of the new research model called systems biology – an integrative approach to analyzing biological complexity and understanding how biological systems function. Located in close proximity to the Fred Hutchinson Cancer Research Center and the University of Washington, ISB has brought together a multidisciplinary group of scholars and scientists, from biologists, mathematicians and engineers to computer scientists and physicists, in an interactive and collaborative environment.

Systems biology has emerged as the result of the genetics/genomics ‘catalog' provided by the Human Genome Project, and a growing understanding of how genes and encoded proteins give rise to biological form and function. The study of systems biology has been aided by the ease with which the internet allows researchers to store and distribute massive amounts of information. ISB's research approach requires huge amounts of data on human genetics and a computational approach capable of reading and understanding highly complex datasets. While showing great promise in theory, this approach has yet to deliver significant findings that have direct applications in the clinical setting.

Ohio State University: Center for Personalized Healthcare

Pursuant to a long-standing interest in personalized healthcare at the Ohio State University Medical Center (OSUMC; OH, USA), the university's Board of Trustees approved the creation of the Center for Personalized Healthcare (CPHC) in 2005. In parallel, OSUMC has made a public commitment to ‘creating the future of medicine to improve people's lives through personalized healthcare'. The vision of the CPHC is to foster incorporation of personalized healthcare initiatives into health maintenance and clinical care across the nation and around the world. Its mission is to propel translational and clinical research in personalized healthcare at OSUMC, facilitate the incorporation of this research into patient care, and educate and advocate for personalized healthcare locally, nationally and internationally.

Two major strategic objectives are undertaken in order to realize the vision of personalized healthcare. First, develop outstanding capacity for personalized healthcare biomarker research at OSUMC through advancing and solidifying current strengths in biobanking and bioinformatics. The essence of personalized healthcare research is the discovery of genetic/genomic biomarkers that identify individual susceptibility to disease and each person's unique response to therapy. At its core, this research requires the use of biologic material that contains hitherto undiscovered biomarkers, whether they are DNA, RNA, protein, metabolites, ions, carbohydrates or lipids. Properly collected and managed biospecimens, coupled with accurate clinical data, are a fundamental building block of personalized healthcare discovery.

The Ohio State University Medical Center and Comprehensive Cancer Center are currently working together to establish a comprehensive institutional biobank. OSUMC has multiple biorepositories devoted to research, clinical trials and medical decision making. However, these historically lack consistency in either sample storing, available health metrics and associated clinical metadata, or ease of retrieval. In addition, there is a need for a universal and uniform informed consent protocol that enables the constant and routine collection of both normal and diseased samples from individuals.

The new centralized biobank is being built using state-of-the-art science approaches and incorporating best practices to ensure the quality and consistency of the biospecimens. Furthermore, the institution-managed biobank will operate on a set of common principles that allows streamlining of the approval process of using human biospecimens for research. This will be achieved by implementing a general informed consent protocol that enables the collection of biospecimens from all patients who consent to the use of their biospecimens for research.

In parallel to the development of a biobank, OSUMC has developed a comprehensive information warehouse, which will serve as the central repository of all patient data. While this will facilitate clinical care, it also is intended to propel clinical research by providing qualified researchers with access to large databases. Access to the clinical data will be carefully guarded through an ‘honest broker' mechanism, by which patient records are de-identified for research purposes, as approved by the Institutional Review Board. A critical element of this access is a newly formulated informed consent form that permits patients to select whether their record can be used for research purposes. Details of this process are currently being finalized.

The second, advance leading-edge personalized healthcare biomarker discovery by combining OSU's strengths in biobanking and bioinformatics with its expertise in biomarker technology, specifically in miRNA, SNP analysis and genome-wide association studies. CPHC will collaborate with physician and research scientists to initiate and expand research programs in personalized healthcare. These personalized healthcare programs will initially focus on biomarkers for cancer diagnosis, pharmaco-genomics/-genetics research and genome-wide association studies. OSU has nationally recognized strengths in miRNA, biomarkers for leukemia, and SNP analysis. For example, human cancer genetics is a leading-edge translational research area at OSUMC. Studies range from mechanistic studies, which potentially translate into targeted therapy and clinical diagnosis for cancer, to identifying risk factors for cancer. Led by Carlo Croce, the laboratory was the first to identify changes in the expression level of miRNA in chronic lymphocytic leukemia.[25] Subsequently, other groups have demonstrated abnormal expression levels of miRNA in many types of human tumors,[26,27] highlighting the potential for developing novel biomarkers.

Furthermore, the OSUMC has a strong focus on clinical and translational research, with the recent formation of the Center for Clinical and Translational Sciences, funded by the National Institutes of Health's Clinical and Translational Science Award program. The CPHC will collaborate with Center for Clinical and Translational Sciences to facilitate research from bench to bedside, thereby translating scientific discoveries into clinical applications in personalized healthcare.

The organizations that are highlighted here are not the only institutions pursuing a personalized healthcare research agenda. Almost every academic medical center has embarked on this path, while the abovementioned organizations have characteristics that are hallmarks of current trends. Harvard's focus on genetics and genomics, Duke's orientation on personalized healthcare delivery, Emory's orientation on health instead of diseases and its pursuit of biomarkers of normal health, the University of Pennsylvania's emphasis on translational medicine and therapeutics, UNC's approach to pharmacogenomics and individualized therapy, TGen's thrust to translate genetic and molecular discoveries into clinical-care settings, ISB's use of systems biology to analyze complex research and clinical data, and OSU's emphasis on biobanking and data warehousing highlight these trends. The field of personalized healthcare is complex and involves so many areas of study that no single institution can pursue all aspects. Focus and differentiation are not just strategies but a necessity for fruitful advances Table 1 . To complement select centers, institutions are further building consortia to make broad resources mutually available.

Steven Murphy, the blogger of the Gene Sherpa and a Clinical Genetics Fellow at Yale University (CT, USA), advises institutions to abandon the ‘prize' for publication, which is so highly valued in academia, but prevents the early exchange of information and resources. Instead, Murphy says, institutions need to nurture interinstitutional collaboration: "In fact I would say we should prize how many universities were involved in every study".[104]


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