Pharmacogenomics: The Key to Unlocking the Future of Personalized Healthcare

Sobha Pisharody, Ph.D., Chief Strategy & Product Officer, InformedDNA

Pharmacogenomics—the study of genetic influences on an individual’s response to therapeutic medications—is an area of personalized medicine that is gaining momentum. Although pharmacogenomics has been around for a while, providers, health plans, pharmacists and legislators are developing a greater appreciation for its potential benefits and applications. 

How Can Pharmacogenomics Improve Outcomes?

By considering a person’s DNA in treatment options, providers can determine how an individual’s genetic profile may impact the way the individual could respond to specific therapies. For example, certain gene changes may indicate a person is a high metabolizer and thus may require a higher starting dose of medication to have a therapeutic effect. Alternatively, other gene changes may indicate a low metabolizer status, which may indicate the need for a lower starting dosage to achieve the same therapeutic benefit while minimizing side effects. 

There are many advantages to using genomics to inform therapeutic decisions. 

For instance, it can help guide drug selection, possibly reducing the time it takes to get the most appropriate medication to the patient. It can also ensure more tailored dosing recommendations, which may be able to avoid adverse reactions that could lead to costly emergency room visits. Overall, it can enhance drug treatment efficiency and effectiveness, which can lead to better patient outcomes and lower care costs.

Certain Care Areas Have Seen Some Success 

Pain management, cancer therapy, and mental health treatment are some areas that are ahead of the curve in using genomics information. With pain management, a gene involved in turning codeine into morphine can influence how much codeine will be effective in addressing a patient’s pain. Using a genetic test, providers can see if specific changes that lend themselves to modifiers in metabolism are present and consider avoiding certain forms of pain relief or choosing other, potentially safer, options based on the test results.

Similarly, a particular mutation in the gene coding for an enzyme can influence the effectiveness of a common cancer-fighting drug. If a patient is found to have a known genotype associated with influencing the medication’s toxicity, then a provider can fine-tune dosing to deliver just the right amount. 

When selecting mental health treatments, testing for common gene mutations within a gene involved in the metabolism of specific antidepressant therapies—called tricyclic antidepressants—is beneficial when determining the dosage for these medications. This testing may reduce the failure rate of initial treatments when used in the drug selection process. 

What’s Needed for an Impactful Pharmacogenomics Program?

By weaving pharmacogenomics into standards of care, the healthcare field has the opportunity to make medication selection and dosage more precise. There are lots of levers to pull to make this happen. 

Increasing education for providers, health plans, and patients. Genomics is a complex, rapidly expanding field. The sheer volume of information is challenging for providers, patients, and health plans to navigate. More specifically, providers and health plans need access to decision support that includes clinical pharmacy and genomics expertise—whether in their own organization or by partnering with external genetics and clinical pharmacy experts. This will allow them to better understand

– how pharmacogenomics fits into the overall context of medical care;

– the benefits and limitations of certain tests;

– which tests should be part of a standard of care; 

– how to keep care standards current as the field evolves; and

– how to communicate with patients about test results in a way that is accurate, clinically actionable, and appropriate for the patient’s level of understanding. 

Genetic specialists and clinical pharmacists are well-positioned to educate providers and health plans about genomics and the importance of using it responsibly to guide drug selection and dosage. They can also provide coaching on policy development, how to communicate with patients, and how to keep evolving as the field advances.

Making genomic information available at the point of decision-making. Having a patient’s pharmacogenomic profile in advance of prescribing can give providers more confidence that a drug will actually help the patient. To ensure this information is present when needed, it must be available in the EHR. This allows providers to act while the patient is in front of them and when they are making prescribing decisions. 

Getting genomic information at the point of decision-making requires investment in technology to improve interoperability and bring testing information together with the patient record. Data must be easy to understand and actionable, offering decision support. For example, alerts should call providers’ attention to opportunities to use pharmacogenetics. These alerts should include language that helps the provider communicate the information effectively to the patient.

To scale the use of genomic testing, we also need to find ways to preserve the longitudinal record. A pharmacogenomics profile doesn’t change. A patient’s profile can be reinterpreted for different conditions, depending on the test and our ever-increasing knowledge. As such, it can be a living profile that helps guide therapeutic selection throughout a patient’s lifetime as needed. For instance, if a provider runs a comprehensive test for a patient who needs antidepressants in their twenties, that same test can be analyzed later in life if the patient develops cancer. Partnering with patients to think through how to maintain this record and give them the freedom to carry it with them throughout their life is a challenge we as an industry must face. 

Facilitating access to genomic testing. Health plans can facilitate pathways to using pharmacogenomics through their policies. If they develop policies that improve access to the pharmacogenomic tests that are actionable for patients, this can further establish certain tests as a standard of care when prescribing specific medications. 

Effective policy development may require reviewing and streamlining the prior authorization process to limit inappropriate ordering while removing roadblocks to medically necessary tests based on the clinical reason for testing.

Raising awareness through advocacy. Professional societies can also improve the visibility of pharmacogenomics. Organizations like the Clinical Pharmacogenetics Implementation Consortium (CPIC), which validate the advantages of pharmacogenomic testing for medication selection and dosing, can continue to update and distribute their guidelines. This can build awareness and engagement with providers around the value of using pharmacogenomic testing for certain clinical scenarios. 

What Does the Future Hold?  

Going forward, some areas of medicine will begin to adopt pharmacogenomics as part of standard practice more quickly because of the growing body of evidence that touts the benefits for certain clinical scenarios. 

In addition, pharmacogenomic information may soon be used as part of the clinical trial process. This may help us understand earlier some of the therapeutic advantages and limitations of certain drugs for people with or without particular genotypes—possibly improving study outcomes and saving time in the clinical trial process.

Pharmacogenomics is poised to transform personalized medicine. With robust decision support, advocacy and technological innovation, we can weave this critical information into decision-making, helping advance the practice of personalized medicine to make it more effective, efficient and precise. 

About Dr. Sobha Pisharody
Dr. Sobha Pisharody leads InformedDNA’s product strategy and development initiatives. Prior to joining InformedDNA, she founded and grew a consulting practice leveraging more than 20 years of experience to helping product companies identify opportunities and design products to ensure strong market growth. She has held senior leadership roles in both startups and large companies, from chief product officer at Hound Labs to senior vice president of product and strategy at Talis Biomedical, and director of product management at Thermo Fisher Scientific, where she led businesses within the qPCR and Capillary Electrophoresis franchises. Prior to that, Sobha was the founder and CEO of GenoRx, Inc., a molecular diagnostic startup. She holds a Ph.D. in molecular oncology and immunology from the New York University School of Medicine and a B.S. in genetics from the University of California at Berkeley.