The Age of Personalized Healthcare

Personalized medicine refers specifically to the field of genetics and genomics.

What is Personalized Healthcare


“One size does not fit all.” Familiar with this phrase? The industry which follows this principle the most is the retail industry. But how does this apply to healthcare? If two persons catches a cold, do they need to be given different medicines? How can this concept be applied to medications and healthcare? There are many definitions out there for personalized healthcare. Personalized healthcare and personalized medicine are often used synonymously, but understanding the differences is important.

Personalized medicine refers specifically to the field of genetics and genomics. You can read our post Technology Overpowers Cancer – Genomics to our Rescue to know more about how personalized medicine is related to genomics. Here we will talk about the more broader aspect, personalized healthcare.

Personalized healthcare includes genetics and genomics but also includes any other biologic information that helps predict risk for disease or how a patient will respond to treatments. An example of personalized healthcare would be the inclusion of specific biomarkers like Lipoprotein (a) that can help to better predict risk for heart disease or stroke in some individuals. These biomarkers can augment our traditional means of assessing risk based on age, menopausal status for women, diabetes, high blood pressure, or high cholesterol levels.

How does Personalized Healthcare work

There are a few different ways for doctors to use the genetic makeup of patients and their diseases to optimize treatment. Earlier, patients were treated with a “one-size-fits-all” mentality, however, it doesn’t make sense to care for a 3 years old child the same way we would approach treating a 50-year-old individual. Also, we now possess the tools that enable us to treat patients as separate individuals. These tools include huge databases that allow doctors access to biological information (such as the human genome sequence), new ways to categorize patients (e.g. via their genotype or cellular assays), and the technological power to compute large amounts of data.

If an application takes a closer look at the patient’s genome before prescribing a certain medication or therapy the chances of optimizing the treatment process increases by multiple folds. Gene expression profiling gives doctors a better idea going forward of what will and won’t work for a patient in order to avoid adverse reactions and/or treatment failure.

For example, there is a medication that is used to treat HIV/AIDS. Research indicated that while 90% of respondents can tolerate the medication, it can cause serious hypersensitivity among others. This led the FDA to recommend checking patients for the gene before they begin to take this particular medication. Now, by pre-screening individual patients, doctors use personalized medicine to determine which treatment they may safely and effectively prescribe.

Advantages of Personalized Healthcare

  1. Cost and Quality: Personalized healthcare can help us predict the right therapy with the fewest side effects for individual patients. It can improve the quality of care and decrease cost at the same time.
  2. Getting patients involved in their care: Studies have shown that patients fill and take prescriptions as instructed only 60 percent of the time. Why is this? Many reasons likely exist, including a growing culture of concern regarding medication and side effects and a growing culture of mistrust of the medical system. With easy online sharing of information, patients can very easily learn and share their experiences — including negative experiences and medication side effects.
  3. Reduced probability of negative side-effects
  4. Ability to make more informed medical decisions
  5. Focus on prevention and prediction of disease rather than a reaction to it.
  6. It can help determine a person’s risk of developing many medical conditions such as cancer, cardiovascular disease, diabetes, obesity etc.

Current challenges faced

  1. Quality Assurance: Access to reliable high-quality genetic testing is essential to maximize the benefit that can be derived from new and existing practices in personalized medicine for individuals, subpopulations, and the health care system. Reliability and quality of testing can be assured through an effective regulatory framework for clinical laboratory operations, medical testing, and diagnostic devices. Experiences and surveys suggest insufficient reliability which may be due reasons like laboratory staff turnover and lack of relevant training for pathologists and technologists to perform the testing, lack of appropriate quality assurance methods, inadequate quality control policies and practices and poor communication and teamwork among healthcare professionals.
  2. A process to evaluate and recommend genetic tests: Decisions to approve genetic tests for funding are made at the provincial level. Some provinces have no process in place to review and approve genetic tests, nor established mechanisms to implement test use. Among the provinces that have processes to evaluate genetic tests for funding, the processes differ. Without formal provincial processes in place to evaluate new tests and technologies, individual hospitals are under increasing pressure from physicians and patients to make decisions and to offer every new genetic test.
  3. Funding for specific genetic testing: All hospital laboratories receive fixed funding to support their operations. Any tests and services offered, including genetic tests, must, therefore, be subsumed within the available budget, because provincial governments do not provide specific reimbursement for them. To offer a new genetic test, hospital laboratories must often redirect existing funds (for example, reduce funding of other services to fund the new test) or obtain funding from other sources (for example, from the hospital department requesting the test). Also, provincial ministries of health do not typically provide funding for other testing-related activities, including proficiency evaluation, staff training, and development of new testing protocols.

Courses of Action

There is a need to identify suitable biomarkers that predict disease susceptibility, response to a medication (efficacy/effectiveness and toxicity) and disease progression, and to develop suitable diagnostic tests that can be commercialized. The medicine and diagnostic industries have to develop new ways of cooperating, sharing the burden and the rewards in a manner that makes it economically viable for both partners to invest in PHC.

PHC has to become a holistic approach, consisting of a large preventative part that helps patients find a suitable strategy to avoid developing a disease based on their genomic, metabolic and lifestyle profile. This requires knowledge of the personal genome and a personal health record that captures all relevant disease information from birth, including information about the health state of close relatives and exposure to environmental factors.

Payers – independent of the healthcare system – and ultimately the public that pays for healthcare directly or indirectly will have to accept that the application of PHC requires an investment that ultimately will be paying off in lower disease cost. Such investments need to be made in the areas of data collection and preventative medicine. New reimbursement policies will probably have to be developed, as well as new regulatory frameworks.

Physicians have to be educated in the interpretation of results of genotyping, its utilization in clinical patient management and in molecular medicine in general. They also have to be able to explain to patients the impact of results of genomic tests and other personal lifestyle choices in the light of the individual patient’s profile. Physicians will have to be adequately compensated for both, their education and the time they will require for detailed discussions with patients.

Ultimately, patients have to be enabled to make personal decisions on their treatment, with the help of their doctor and based on their preferences and their individual balancing of benefits and risks. They will also have to understand that there empowerment also results in their responsibility for the decisions they make.