Wednesday, August 6, 2014

Personalized medicine-Leveraging what makes a person unique rather than usual or typical

THE SHIFT TO PERSONALIZED MEDICINE

A significant shift to “personalized” medicine is influencing practice, education, and research. Currently we practice based on the evidence generated from randomized clinical trials that demonstrate efficacy of a particular intervention. So we focus on the so called middle of the curve and what works for the majority, the average, the typical individual. We base our practice on a generalized perspective. As an example, we choose antibiotics or other medications based on how the patient presents and what we know works typically in similar cases. While this view point will continue to be prevalent and useful, the idea of “personalized” medicine is founded on the particulars and specifics of what makes that person or family unique, not usual or typical. This approach is actually a very significant shift in the foundations of our thinking.

Personalized Medicine
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease. Knowledge of a patient's genetic profile or proteomics can help doctors select the proper medication or therapy and administer it using the proper dose or regimen. Personalized medicine is being advanced through data from the Human Genome Project. Consideration of characteristics such as age, coexisting conditions, preferences, and the crafting an individual management strategy augments the use of advanced individual genomic information in choosing a biologic agent tailored to the patient’s needs. Customized monoclonal antibodies and vaccines are examples of personalized medicine. Personalized medicine is a medical model intended to customize healthcare with the use of molecular analysis: tailoring medical decisions, and products to the individual patient to prescribe the right drug or treatment, to the right disease, at the right time, with the right dosage.

Genomics
Genomics is seen as a blue print for growing organisms including humans. It is giant umbrella topic covering the many areas of the natural sciences including biology, health sciences, and zoology. Breakthroughs in genomic research and the sequencing of the human DNA now allow scientists to study the interactions of environmental and genetic factors that impact the disease process. Moreover, the potential now exists to develop genome-based pharmaceuticals for specifically targeted therapies. The Human Genome Project (http://www.genome.gov/10001772 ) was a process of phenomenal scientific discovery that has advanced medical science to allow for treatments to be targeted to the unique genetic makeup of an individual.

Genome-wide association studies rapidly scan markers across complete sets of DNA of many people to find genetic variations associated with a specific disease or phenotype. The studies are comparative case control studies that involve comparing individuals who have the disease phenotype to non-diseased individuals. These studies are possible now because of the availability of research tools, tissue banks that contain the reference human genome sequence, maps of human genetic variation and sets of new technologies that can quickly and accurately analyze whole-genome samples for genetic variations that contribute to or prevent the onset of a disease.

Genome-wide association studies have found genetic variations that contribute to the risk of type II diabetes, Parkinson's disease, heart disorders, obesity, Crohn's disease and prostate cancer, as well as genetic variations that influence responses to anti-depressant and anti-coagulant medications.  Genetic variants have also been identified for age related macular degeneration, a common cause of blindness.

Researchers can access data from genome-wide association studies through The National Center for Biotechnology Information (NCBI), which is a part of NIH's National Library of Medicine. The NCBI is this resource for use by the research community and have archives of data from genome-wide association studies on a variety of diseases and conditions. These are all accessed through the NCBI Web site: Database of Genotype and Phenotype (dbGaP) located at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gap.6. NIH requires that researchers who are funded to do a GWAS share their data so the data base will expand and grow and become more of a resource to other researchers, scientists and consumers. These big data will promote a discovery paradigm in science.

P4 Medicine
P4 Medicine is a conversion from a reactive mode, focused on disease, to a model of prediction, prevention, personalization and participatory medicine. P4 Medicine will improve the quality of care delivered to patients through better diagnoses and targeted therapies. These advances facilitate new forms of active participation by patients and consumers in the collection of personal health data that will accelerate discovery science. Soon a virtual data cloud of billions of health-relevant data points will surround each individual. Through P4 Medicine, we will be able to reduce this complex data to simple hypotheses about how to optimize wellness and minimize disease for each individual.

Systems Biology and Big Data
The study of systems biology is quantitative measurement and study of the interacting components in genomics using bioinformatics and proteomics, which then have a mathematical computation models applied for prediction and description of the dynamic biological system. Systems biology is now pioneering actionable understandings of disease and wellness as a continuum of network states, unique in time and space to each individual human being. Scientists at the Institute for Systems Biology are exploring new techniques and strategies that will make blood a window for health and disease, which is a critical platform for P4 Medicine and new advances in drug targeted discoveries. The emergence of big data and computing power has transformed how scientists and healthcare systems are disentangling the complexities of disease and wellness. Currently, new tools for mining, integrating and modeling big data sets of heterogeneous biological data are generating predictive and actionable models of health and disease that translate directly to individual health.

Another factor that will become important to personalized medicine is tissue regeneration. Advances in the ability to create tissue from pluripotent stem cells and the ability to use 3-D printing to create personalized body parts are game changers.

The future is provision of personalized care using individualized patient information obtained from DNA sequencing and proteomic analysis. The care will involve predicting the risk of developing certain diseases, hence tailored disease prevention programs, and the provision of personalized treatments based on genotypic and biologic information. This approach will result in the least adverse reactions in a particular patient because the treatment will be developed with that specific person’s genomics in mind. As personalized medicine evolves, it will be essential for patients and family consumers to become engaged in how personalized care is delivered.

DRIVING FORCES
The driving forces leading to the paradigm shift include knowledge of human genome and less expensive sequencing, knowledge of systems biology, and advance in tissue regeneration. The internet and cloud technology provide the potential capacity to a share data worldwide. The power of crowdsourcing science is immense.

THE CHALLENGES 
Once people are aware of their disease risk, we will still face the ongoing challenge of improving health behaviors including self-monitoring, nutrition, physical activity and other wellness practices. There is a need to develop educational tools so that the providers and the patient/ family are not overwhelmed with their biologic and genetic data.

Controversy and Issues to Consider: Genetic Discrimination
Many Americans fear that undergoing genetic testing will lead to discrimination based on their genetics. A challenge to genomic research and personalized medicine exists as people may be fearful and dissuaded from participation because of privacy issues, genetic discrimination in employment, and the potential of being denied insurance.

The 2008 Genetic Information Nondiscrimination Act (GINA) prohibits discrimination based upon genetic information in the workplace and by health insurance issuers. GINA protects Americans from discrimination based on their genetic information in both health insurance (Title I) and employment (Title II). Title I amends the Employee Retirement Income Security Act of 1974 (ERISA), the Public Health Service Act (PHSA), and the Internal Revenue Code (IRC), through the Health Insurance Portability and Accountability Act of 1996 (HIPAA), as well as the Social Security Act, to prohibit health insurers from engaging in genetic discrimination.

Other Issues for Consideration
One of the issues to be considered is whether personalized medicine can actually lower health care costs while making care more individually applicable through genomics. Will it be possible to personalize medicine, provide improved care, and eventually slow and stabilize the cost of care? Funding and costs are essential parts of the healthcare equation.

There may also be the potential to add to health disparities. Would this customization only be available of those with financial resources or high health literacy? There is also the possibility that the lab testing and counseling that currently is essential to personalized medicine would not be covered by all private insurance or Medicare.

The digitalization of medicine and the provision of tools to manage each individual’s billions of data points and creates actionable diagnosis from one molecule, one gene, one genome, or one tissue. This will transform one of the biggest engines of economic growth, the healthcare industry. Opportunities exist for the emergence of new companies, some of which do not even exist today. For example, manufacturing equipment and processes will be needed to create the new tissues and organs. Related concerns include quality regulation of the processes and long-term durability of the tissue once it is created. 

The conflicts, controversy, and tensions between the paradigms are many. What will be the role of the physician and other providers? There are concerns about costs, privacy, and ethical concerns about objectification of a human to a sequence of letters. Danger exists of purposely manipulating human genes for unethical reasons or potentially extending life to a detriment. Many stakeholders: policymakers, payers, providers, and the public are wary of unintended consequences of personalized health care.

RECOMMENDED READINGS OR LINKS FOR MORE INFORMATION


Created by Participants in Nursing 7106 Context for Advancing Science (and Improving Health)
University of Utah College of Nursing PhD Program Summer 2014 
Submitted by: 
Linda C. Hofmann, MSN, RN, NEA-BC, NE-BC and Angela Njenga MHA, RN
(Lead Authors) 

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