Contributed: Precision genomics could work with digital health to disrupt healthcare

Digital technologies have filtered into nearly every facet of medicine, from drug discovery all the way to consumer fitness. But digital health isn’t the only relative newcomer that could disrupt the status quo in health. The precision genomics space is also growing in popularity and use.

What is precision genomics, and how will this space work with digital health? 

Precision genomics medicine is a customized medical approach that focuses on identifying and optimizing medical treatments and medical-prevention solutions based on individuals’ genomic profiling. In addition to this molecular makeup, precision medicine also takes into account the environment and lifestyle of individuals to better address their health problems.

In recent years, this emerging field has gained more attention from both healthcare stakeholders and technology developers due to its potential to establish itself as a reliable tool for predicting diseases, improving health outcomes, designing customized, more effective drugs, and decreasing the overall costs of healthcare.

Human genome – the basis of precision medicine

The basis of precision medicine is the human genome, whose study and understanding allow scientists and medical professionals to better comprehend the impact of its variations on people’s health. The study of genome’s structure, mapping, function and evolution (a field called genomics) provides a comprehensive picture of how a person’s biological functions impact each other. Genomics also predicts the issues that may appear when genetic interferences affect these functions.

The 2.7 billion dollar Human Genome Project, carried out between 1990 and 2003, has sequenced around 20,500 human genes that outlined the blueprint of the human body. This sequencing was used by scientists as the pillar for identifying the genetic anomalies responsible for a disease’s development. 

It revealed why certain people were more genetically predisposed than others to develop certain health issues (such as diabetes). It also helped describe the characteristics of certain diseases – why some people develop more aggressive forms of cancer, why some people living with HIV live longer than others and even why some individuals do not respond to certain methods of chemotherapy.

All this was possible thanks to genomics’ ability to assess the genetic variables that influence the evolution and treatment of a disease such as breast cancer. Genomics also provides essential information that enables medical professionals to recommend treatments and prescribe drugs personalized to the patient’s molecular profiling.

Genomic testing identifies the alterations in our genes that cause certain diseases. This type of testing provides:

  • risk markers that help screen for diseases.
  • prognostic markers used for predicting the evolution in time of a disease, its likelihood of re-emerging and its potential outcome.
  • predictive markers that help select one or more treatment options.
  • response markers that evaluate how efficient the administered treatments are.

Since the first version was introduced into the market in 2007, home genetic testing kits have evolved to the point where they can provide important information regarding a person’s predisposition to develop various diseases, ranging from late-onset Alzheimer’s disease or Factor XI deficiency (a blood-clotting disorder) to celiac disease, Parkinson’s disease or Hereditary thrombophilia (also a blood-clotting disorder).

The benefits of precision genomics medicine

Precision genomics medicine can recognize a disease long before the symptoms appear. Early detection increases the chances for administering an efficient treatment, which translates into less suffering for the patient and lower healthcare costs by avoiding hospitalization. At the same time, less money is spent on ineffective treatments or medication, since genomics is able to provide patient-customized treatment and medication.

Precision genomics medicine enables the correct diagnosing of a disease when symptoms begin to develop. The existing database of genetic biomarkers (especially for various types of cancers) makes possible the detection of rare diseases that in the past took years of investigations to diagnose. For example, the Cancer Genome Atlas has mapped essential genomic changes for more than 30 types of cancer in the U.S. The genetic sequencing of cancer tumors also helps professionals learn what causes them and how they can be destroyed.

Precision medicine also has an impact on pharmaceutical clinical trials, reducing their time, cost and failure rate. Diseases become more complex, and developing new cures becomes more expensive. A report published in 2019 indicated that pharmaceutical companies spend, on average, 17% of revenues on R&D.

With an estimated cost of $4 to $7 billion needed to put a new medicine on the market, it’s essential to develop patient-tailored treatments and medicines that have more chances to succeed with less risk of being ineffective than one-size-fits-all cures.

In disease treatment, medical professionals and researchers observed years ago that the same medication in the same dose affects patients differently. Genomics has clarified this issue: Genes have an influence on the creation of essential enzymes, a creation that takes place in the liver, which is responsible for processing medicine.

If genetic variations (called polymorphisms) prevent these enzymes from working properly, the drug can have severe side effects on the patient. Precision medicine can test these variations and come up with alternative, personalized treatments that will have the same benefit for health, but without the side effects (or with mild ones).

How is precision genomics medicine affecting patients?

The customization of treatments and drugs provides patients with new solutions for their chronic or acute conditions, for improving their life conditions and in many cases even their life expectancy. However, the main concerns expressed by patients are related to how their genomic information will be used. Some patients worry this data might prevent them from obtaining the medical coverage they need for treating their diseases, which translates into what is called genetic discrimination.

Another effect that precision genomics medicine has on patients was revealed by a survey from 2017. The document indicated that 16% of respondents were confused by the results of their genetic testing, while 6% of them felt mildly depressed after seeing their results.

This challenge can be addressed by educating patients that undergo genomic testing and by integrating a communication routine in the clinics that perform this type of testing. The education of patients should be the focus of both insurers and providers, since this enables patients to understand better, to have more confidence in precision medicine and, at the same time, to be more involved in their care in both prevention and treatment.

On the other hand, some medical clinics have already implemented a communication routine for patients who are genetically tested. This comes in the form of a document handed to the patient that presents the information revealed by the test, what the patient needs to do right after testing, what they need to monitor over time and what the patient needs to do in the long term.

How is precision genomics medicine impacting insurers?

Precision medicine offers insurers data essential for:

  • providing customized medicines and treatments to patients based on their genomic profiles.
  • optimizing their costs thanks to these customized care solutions.
  • making more scientific-based decisions in the interest of their patients as a result of access to their genetic contexts.

In turn, insurers must make sure they protect the data of their patients by storing it safely, on proper platforms and devices, and by using the insights provided by this data for empowering patients to become more involved in their care.

How is precision genomics medicine affecting providers?

Although it’s an overwhelming task, integrating precision genomics medicine with the patients’ records is a necessary step that providers must take so they can offer customized treatments and drug plans. This enables providers to improve the health outcomes of their patients and make evidence-based clinical decisions in the best interest of these patients.

Providers also have the responsibility of educating the patients before they are genetically tested by explaining what precision medicine is and by answering their questions.

On the provider’s side, a survey conducted in 2019 showed that of the 130 physicians questioned, 62% “did not receive any type of formal education in genomic medicine or using genetic information to make individualized risk predictions and treatments decisions.” 

The survey also indicated that only 23% of the respondents felt at ease talking with their patients about genetics being a risk factor for various diseases. One solution to address these issues is to include genomics and genetics into medical students’ curriculum and in the development training of medical professionals.

What is pharmacogenomics?

Pharmacogenomics (PGx) is an emerging field that studies how variants of genes can influence a person’s response to various medications. The study and testing of these variants enables pharmacogenomics to indicate whether a medication is effective for a certain person and to predict if it may have side effects for that person.

Combined from the word “pharmacology” (meaning the study of uses and effects of drugs) and genomics, PGx has a huge value for patients who are prescribed medication plans based on their genomic profiles. This customized approach makes treatments more effective, prevents side effects (or diminishes their severity), decreases the number of visits to doctor for changing doses of prescribed drugs and lowers the overall medical costs.

In 2019 there were 250 drugs featuring pharmacogenomics information that could be prescribed to patients based on their molecular profile. RxMatch, for example, is a molecular test that analyzes a person’s DNA to understand how the variations of genes can affect the body’s processing of certain drugs and that person’s response.

A DNA sample is taken from the patient on a cheek swab that is sent to a lab. In seven to 14 days, the results of the test are ready. These results provide scores on a wide range of drug categories – from antidepressants to antibiotics, statins, opioids and immunosuppressants – and allow doctors to prescribe the medication most likely to be effective for the tested patient.

The main limitation of pharmacogenomics is that testing must be done for each medication the patient is taking, since PGx cannot determine the body’s response to all medications. Also, currently there are no PGx tests available for aspirin or pain relievers that can be bought without prescription. That state of affairs expected to change in the future, as pharmacogenomics is developing fast.

How genomic testing is used in cancer treatment

Genetic sequencing enables the study of tissue samples taken via a biopsy from a patient suffering from cancer. The genes in the sample are analyzed to understand the interactions between them, and they are compared to genes of healthy people in order to comprehend the disease and its abnormalities. The results of this testing are used to establish an accurate diagnosis for cancer, to decide the most effective treatment plan and also to monitor the patient’s response to prescribed treatment.

Next-generation sequencing (NGS) enables the characterization of tumors, which leads to:

  • a better understanding of biological basis of different cancer types.
  • development of customized therapies.
  • discovery of genomic biomarkers for response and resistance to drugs.
  • improved medical decisions regarding the treatment of patients affected by cancer.

Biomarker testing for cancer treatment, also called genomic profiling or molecular testing, enables doctors to select the cancer treatment based on patients’ genomic particularities.

People affected by a cancer that manifests changes in the EGFR gene, for example, can be recommended treatments that target precisely those changes – treatments called EGFR inhibitors. The scope of the biomarker testing is to establish if the cancer that affects a patient displays EGFR gene changes treatable with an EGFR inhibitor.

Different types of biomarker tests can help choose different cancer treatments. Some tests look for a certain biomarker. Others look for several biomarkers at the same time (multigene tests). The oncotype DX test analyzes the activity of 21 genes to estimate if chemotherapy might work for a patient suffering from breast cancer.

There are also tests that check the number of the genetic changes occurring in a cancer (called tumor mutational burden) to establish if immune checkpoint inhibitors might be effective in the treatment of a person’s cancer.

Biomarker testing cannot help everybody. A test might not detect a biomarker that fits an available treatment, the characteristics of the cancer or of the patient’s body can affect the performance of the therapy, or a biomarker can identify a treatment that will kill only a part of the cancer cells and not all of them. Despite these limitations, genomic profiling remains a highly useful tool in cancer treatment.

Solutions for implementing sustainable precision genomics medicine

Implementing a sustainable precision genomics medicine in healthcare is a complex process that requires cooperation between insurers, providers, the FDA, physicians, pharmacy benefit managers, patients and other healthcare stakeholders.

Several steps must be taken in order to guarantee that precision genomics medicine can provide all the benefits it carries:

  • ensuring providers are equipped with digital tools (such as AI platforms) that will enable them to comprehend the complex data resulting from precision medicine’s techniques.
  • ensuring that patients and employers are educated in precision medicine so they can have access to the new solutions provided by this field.
  • exploring and improving health coverage based on evidence-driven methodologies. This step should be carried out before treatment decisions or drug prescriptions are made for patients whose genomic profile indicates predisposition to or presence of a disease.
  • acknowledging that certain populations cannot benefit from some precision medicine therapies or treatments, since these would not be effective or affordable to them, which would prompt big pharma and insurers to define concrete actions to address these potential inequities.
  • defining standards for data input and management mechanisms so that safe storage devices or platforms can integrate EHRs with genomic data and with clinical data.
  • prioritizing quality over quantity in the production of customized drugs. The combined efforts of drug manufacturers, the FDA, insurers and providers should lead to more effective medicines on the market.


Some experts believe the future of precision genomics medicine is closely linked to the use of AI and machine learning, since these tools enable early interventions based on state-of-the-art diagnostics and personalized treatments.

The latest developments in AI and machine learning make possible fast analysis of huge amounts of data that can be used to provide a better understanding of how genes impact a predisposition to, an occurrence of, or the evolution of complex diseases.

Precision genomics medicine is expected to transform the entire healthcare system in the near future by turning personalized care into a standard.

About the AuthorDr. Liz Kwo

Dr. Liz Kwo is a serial healthcare entrepreneur, physician and Harvard Medical School faculty lecturer. She received an MD from Harvard Medical School, an MBA from Harvard Business School and an MPH from the Harvard T.H. Chan School of Public Health.

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