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 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)
Linda C. Hofmann, MSN, RN, NEA-BC, NE-BC and Angela Njenga MHA, RN
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