Showing posts with label personalized medicine. Show all posts
Showing posts with label personalized medicine. Show all posts

Thursday, August 25, 2016

Personalized Healthcare, Personalized Medicine, Precision Medicine- what are they, do they mean the same thing, and why is it important?

Natalie Jackson
PhD Student, College of Nursing
University of Utah
Image:  www.123rf.com

I conducted an unscientific poll by simply asking people what these terms meant to them.  The most common answer (again, remember, unscientific poll) was, “healthcare that’s about you personally.”   When pressed for greater specificity as to whether the three terms all mean the same thing, the majority of people said "yes".  Very few people could provide a precise definition for any of the three terms, and most head never heard on any of the terms.  Does a precise definition exist, and does the average person need to know what these terms mean?  A google search for each of these terms was conducted. 

Personalized Healthcare:
Very conveniently, the Cleveland Clinic asked my very question, “What is Personalized Healthcare?  From patients to medications, one size does not fit all,” https://health.clevelandclinic.org/2012/05/what-is-personalized-healthcare/.  The article notes that many definitions exist, and that (as in my unscientific survey) people will use personalized healthcare and personalized medicine interchangeably.  They note that personalized medicine includes genetics and genomics; more broadly, personalized healthcare includes both of these items but adds in, “any other biologic information that helps predict risk for disease or how a patient will respond to treatments.”

Even though my poll was unscientific, I know we can’t choose only one website and think we have an answer.  Further down on the first page of my google search I find, “Program in Personalized Health Care - University of Utah Sciences” http://healthsciences.utah.edu/phc/.  Luckily, this website has a tab that asks the same question that the Cleveland Clinic does, “What is Personalized Healthcare?” The answer is, “Personalized Health Care is the tailoring of health care to the individual characteristics of the patient. These characteristics can include environment, social history, health history, family history, genetics, proteomics, and more.”  Note the word “can”.  This definition seems to imply that genetics and genomics don’t necessarily need to be part of personalized healthcare. 
Already, we can see that different definitions of personalized healthcare exist.

Personalized Medicine:
We already know from the Cleveland Clinic’s website that they believe personalized medicine includes genetics and genomics.  Again, let’s see if there are other definitions.

A google search of the term “personalized medicine” leads to the following governmental website: http://www.fda.gov/downloads/ScienceResearch/SpecialTopics/PersonalizedMedicine/UCM372421.pdf. This pdf titled, “Paving the Way for Personalized Medicine, FDAs Role in a New Era of Medical Product Development” includes the following definition of personalized medicine from the Commissioner of the FDA, Margaret A. Hamburg, “the tailoring of medical treatment to the individual characteristics, needs and preferences of each patient..."  The article emphasizes that this paradigm introduces emerging science and technology that will focus on therapeutics targeted to the individual while also considering the interplay of genes, anatomical and physiological differences, environment, social, and cultural and how all of these elements might affect how each individual responds to disease. The FDA description appears to include the whole person and even elements outside of the individual that might affect a person’s response to disease. However, the shift toward personalized medicine is not without potential downsides.  An article from CNBC,  http://www.cnbc.com/2015/12/04/personalized-medicine-better-results-but-at-what-cost.html, discusses the expense associated with this paradigm, and notes that it will take time to determine if the expense pays off.

Precision Medicine:
Again, as with the previous two terms, I conducted a google search of “precision medicine”.  The National Institutes of Health notes that, "Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person,” https://www.nih.gov/precision-medicine-initiative-cohort-program.  President Obama has launched a Precision Medicine Initiative with $215 million in funding for 2016 that includes formation of over a million participants to be part of a precision medicine research cohort.  See the infographic below for more details.


Again, as with personalized medicine, questions exist as to whether the money is worth investing in precision medicine. The website for the journal “Scientific American” has a June 1, 2016 article titled, “The Paradox of Precision Medicine” http://www.scientificamerican.com/article/the-paradox-of-precision-medicine by Jeneen Interlandi.  The article notes that debate continues over whether precision medicine will indeed transform healthcare, and, as with the article from CNBC, cost is a concern.

What did my unscientific search for the definitions of the three terms reveal?
Hard and true definitions for any of these three terms seem to be elusive.  What can be said is that these terms all appear to reference a changing paradigm in health care that focuses more on individual characteristics than the previous one “one size fits all” paradigm.  These characteristics might include genetics, environment, family history, social history, culture… all factors that influence your individual health.  A predominant concern regarding this paradigm appears to be cost.

FINALLY….IS THIS TYPE OF HEALTHCARE OR MEDICINE IMPORTANT TO ME AND WHY IS THIS NEW?
This paradigm shift assumes that accounting for factors such as genetics, environment, and lifestyle, to name a few, will provide improved health outcomes for individuals.  The previous paradigm and its assumption of “one size fits all” has not shown great results, despite spending nearly 18% of GDP on healthcare health metrics do not show stunning success.  According to a Commonwealth Fund article, The United States spends more money on healthcare than 12 other countries, but shows worse outcomes in life expectancy and for a number of chronic conditions, http://www.commonwealthfund.org/publications/issue-briefs/2015/oct/us-health-care-from-a-global-perspective

In monetary terms alone, these terms and this type of healthcare and medicine should be important to everyone because 18% of GDP represents a large amount of money being spent on current healthcare strategies that produces dubious healthcare.  Regardless of what it is called, the move to personalized healthcare, personalized medicine, or precision medicine will affect people on the individual and societal level.

Healthcare costs, resources, access, priorities of care, and ethics are beautifully covered in the following article. 

Just Caring:  Assessing the ethical and economic costs of personalized medicine, Leonard M. Fleck, Ph.D, UrologicOncology: Seminars and Original Investigations 32(2014)202–206  Center for Ethics and Humanities in the Life Sciences, College of Human Medicine, Michigan State University, East Lansing, MI,

Key Points from the article:
What is a just and caring society when our resources are limited and our healthcare needs are unlimited?  What are people willing to pay?
Constantly new and improving medical technology and interventions create new health care needs and increases costs
Need to prioritize- we cannot meet all the needs of every person
Social justice- how do we decide?  What are the norms to make these decisions?

An example from the article, and something to think about:
       Personalized cancer research
       Targeted cancer therapy costs: $70,000- $130,000/treatment
       Most only increase life expectancy by weeks or months
       Is this cost-effective?
       Is this a fair allocation of limited social resources
       QALYS- quality-adjusted life years
       Nearly 600,000 people in US die each year from cancer- if each person used only one of these drugs, it would add $60 billion to our health care bill
       Should this money be used on other healthcare needs that will yield higher quality life years at lower cost?
       As a society we need to find a way to decide what we will spend our limited resources on
Additional Links:
The following links provide information on the University of Utah’s involvement in the paradigm shift toward personalized healthcare, personalized medicine, and precision medicine:

Just Caring:  Assessing the ethical and economic costs of personalized medicine, Leonard M. Fleck, Ph.D, UrologicOncology: Seminars and Original Investigations 32(2014)202–206  Center for Ethics and Humanities in the Life Sciences, College of Human Medicine, Michigan State University, East Lansing, MI. 

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)