Challenge and opportunity of precision medicine

7 min.

Since the completion of the Human Genome Project in 2003, precision medicine software started to leak into the real world, gaining approval from more and more organizations. According to a survey conducted by HIMSS Analytics in 2017, 84% of providers embrace precision medicine considering it relevant to patients’ health and wellbeing. Moreover, 56% of respondents plan to support precision medicine initiatives with in-house and third-party resources in the next 2 years.

The ability to sequence the human genome for creating targeted therapies and predicting patient health outcomes will increase the survival rate and improve life quality in patients with chronic conditions, but we have a long road to travel. From EHRs to big data analysis to clinical decision support and interoperability, healthcare organizations need to build a solid technological infrastructure based on custom medical software first.

Cracking into precision medicine

NIH defines precision medicine as “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.”

In other words, personalized healthcare can exist if providers are able to measure everything that affects a patient’s health:

  • Genome, microbiome, proteome, metabolome
  • Physical activity
  • Sleep
  • Nutrition
  • Air and water quality
  • Socioeconomic factors

All this information can give researchers and clinicians an understanding of therapies and interventions most beneficial for a patient. On top of that, precision medicine allows caregivers to streamline diagnosing and risk assessments for particular patients, based on their health profile and genetic background.

For instance, there are cystic fibrosis treatments that only work for patients who developed the condition due to certain gene mutations. Other people have gene variants that increase chances to suffer from rare side effects under particular treatment. By identifying the gene variants prior to administering therapy, providers can assure patient safety and treatment efficiency.

Undeniable benefits of precision medicine

Precision medicine holds great promise to reshape the healthcare industry, bringing an array of advantages in the process.

Improving care efficiency

Currently, health specialists base treatment decisions on experience and educated guesses, which can’t ensure successful therapy in every case. Precision medicine can remove guessing from the equation and replace it with knowledge about an individual’s health factors that can interfere with particular treatment choices. This way, providers will be able to tailor treatment methodology for each particular patient, reducing the length of stay, facilitating rehabilitation, and improving health outcomes.

Apart from precise cystic fibrosis treatment, targeted therapies are already available for at least three types of cancer.

In patients with leukemia, the Philadelphia chromosome abnormality causes the growth of a fusion protein that allows the disease to develop and spread. The FDA-approved Gleevec drug inhibits the protein growth, allowing patients’ white blood cell count to return within its normal range.

Some patients with breast cancer are HER2-positive, which means that their breast cancer cells contain higher than normal levels of the growth-promoting protein HER2. Accordingly, these cancers tend to grow and spread faster. Herceptin is a drug that activates the body’s immune system and blocks HER2 function, improving survival rates.

With advanced colorectal cancer, monoclonal antibody therapy is used with such drugs as cetuximab or bevacizumab. This therapy allows stimulating a patient’s immune system to attack malignant cells as well as block specific cell receptors to prevent the tumor from further growth.

Introducing preventive care

Personalized healthcare means not only ensuring precise response to a developed condition, but also enabling proactive protection against possible diseases. When the genetic screening process provides enough data, health specialists can elicit patterns and DNA deviations to understand the risks of developing a particular condition.

As Neurotrack founder and CEO Ellie Kaplan claims, Alzheimer is “the greatest healthcare challenge of our generation.” She states that the disease will affect one in three Americans by the time they hit 80. Neurotrack enables imprinting memory assessment by mapping patterns in patients’ eye movements and giving a baseline score of memory health.

Coupled with genetic markers, this assessment can help to predict Alzheimer’s decades before its development and define its severity. For example, the APOE4 genotype is linked to a more aggressive disease course in later stages. Health specialists will be able to help high-risk patients delay the Alzheimer’s cognitive decline with timely and personalized treatment.

Trimming care costs

While genetic mapping is an expensive practice, chronic disease treatment isn’t cheap as well. Precision medicine can reduce care costs via prompting more informed decisions for specific patients and allowing physicians to apply targeted therapy with a greater chance of being effective and avoiding side effects.

For some patients, precision medicine can even lead to less treatment, cutting on both costs and unneeded procedures. According to a recent report on 21-gene assay (Oncotype DX Recurrence Score), some patients with breast cancer can avoid aggressive care. The assay defined the group of patients with the lowest risks of breast-cancer recurrence, which resulted in 15.9% of all patients in the study receiving endocrine therapy without chemotherapy.

Creating transparency in population health risks

Although precision medicine is destined to tailor care delivery for a particular individual, studying genetic patterns in a population can create a bigger picture and identify causes for common diseases. The potential is amazing since clinical researchers will be able to predict a likelihood of diseases, identify high-risk patient groups, and use additional data to correlate with epidemic outbursts, possibly preventing or limiting the disease distribution.

Roadblocks on the way to personalized healthcare

Even though healthcare organizations support adopting precision medicine, it is a demanding area both technology- and resource-wise. Here are the major drawbacks to consider.

All about that data

With more apps, IoT devices, and precision medicine tests entering the consumer market, massive amounts of patient-generated health data are accumulated. With this data, dozens of questions arise. For example, how this data will travel to a patient’s EHR, how it will be stored, who will have access to it, etc. But that’s just the tip of the iceberg.

Cindy Collins, CEO of Human Longevity, states that “we understand less than 5 percent of what the human genome really means.”

We still cannot sift through all the noise and clearly decide whether the data findings are relevant. On the technological side—genome sequencing still advances, it is not at its ultimate stage yet. On the clinical side—one of the reasons is that there’s no general methodology or best practice around precision medicine processes.

Even within one health system, genetic tests can be ordered differently among facilities according to their own policies. Multiple labs use forms in various file formats from PDF to Word and the resulting data taps into separate folders, which means that it should be preprocessed before extracting any value from it.

Providers need to think not only about adapting the infrastructure for new data sources but also about creating standards for genomic test reports.

Legal concerns

When patient data comes into play, its privacy gets under question. In order to reach efficiency on both individual and population levels, genomic data must be aggregated from a significant number of people within different patient groups. With these large data sets, it is legally unclear who owns the data.

Still, if we want researchers to develop targeted medications and physicians to elicit personalized therapies, health specialists need to access this data. Prior to spreading precision medicine practice across clinical and research settings, the privacy, security, and ownership questions need to be answered from both regulatory and technological sides.

Ultimate education challenge

Since the field of genomics progresses exponentially, many health specialists will encounter the challenge of getting acknowledged with precision medicine techniques and staying up-to-date with the knowledge. That means understanding what genetic variants to test for, when the test should be performed, how to order it, is a blood sample or a mouth swab needed, and whether the test result is actionable.

On the patient side, more and more people will start using direct-to-consumer testing. Although the test providers are doing their best to make the whole process transparent and comprehensive, patients can get confused about their risks to develop a particular disease. That’s why physicians have to prepare for helping their patients interpret test results and not freak out on the way.

When precision medicine is just medicine

One day, personalized healthcare will become the primary option to treat patients. All therapies will be targeted towards a patient’s health profile, residence, lifestyle, and socioeconomic environment. Right now, we are not exactly there.

Advancing in precision medicine research and treatment will require information and technology. There should be CMS-driven standards and regulations to generalize internal policies across settings. Providers and researchers will need a modernized IT infrastructure to support emerging data flow without compromising security. Insurers will also have to embark on covering tests and treatments that anticipate patient needs and consider future risks in a proactive manner. When payers, providers, and regulators join their efforts, we will be able to reap all opportunities from precision medicine.