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Contributed Commentary by Dr. Surya Singh, CEO, InformedDNA 

May 16, 2025 | Genomics has led to phenomenal scientific and medical advances over the last several decades, especially in cancer care. This progress can be seen not only in personalized therapies and drug development, but also in the ability to use biomarkers to identify the right drug for the right patient at the right time. As both a medical scientist and a longtime practicing physician, I believe  there are important opportunities to apply genomics much more broadly for proactive care and population health through preventive screening and early diagnosis of many conditions related to obesity, cardiology, neurology, and ophthalmology.   

Mounting evidence supports broad testing for common hereditary conditions and use of polygenic risk assessment for multifactorial conditions. However, adoption is hampered by a plethora of obstacles and inefficiencies. Providers struggle to correctly order, interpret, and act on genetic tests. Important results get lost in EHR systems and therefore are not shared across specialties. Payors are reluctant to reimburse for genetic testing and counseling without seeing health outcome data comparable to the typical data presented for therapeutics. Patients may not have a full understanding of their genetic testing results and are typically unable to access them for future reference. All these factors lead to suboptimal outcomes. 

A More Thoughtful Approach  

If we want to take better advantage of genomics in population health, we need to think about the entire workflow—from diagnosis and screening through coverage, reimbursement, and ongoing care. As an impactful first step, I believe we should start with proactively genotyping people who are at highest risk of adverse events from medications, e.g.: 

• People on a drug with a validated genomic marker. A growing number of medications have one or more validated genomic markers. For example, the Clinical Pharmacogenetics Implementation Consortium (CPIC) currently lists more than 100 gene/drug combinations with enough evidence to support prescribing changes. 
• People with “polypharmacy.” The more medications, the greater the likelihood of a serious health risk, and the more  benefit from genetic testing. 
• People with a history of adverse drug reactions, such as unexplained or severe side effects, who may benefit from pharmacogenomic testing. 

Providers then need a simplified process to adopt pharmacogenomic testing more broadly. While some may want to develop in-house expertise, partnering with a qualified third-party expert that can integrate into their existing patient care workflow may make  more sense. Ideally, this third-party partner can provide plain-language explanations of genetic test results to both patients and their providers. I believe this collaboration would help make genetic testing more commonplace—and more effective. Both providers and patients would be able to appropriately utilize genetic testing results to determine the best course of action. Providing patients with a better understanding of their test results also makes them better advocates for their own care.  

This approach would also appeal to payors by focusing on the highest-risk members who would benefit the most from genetic testing—and generating better tracking of evidence-based results and outcomes.   

But pharmacogenomics is just one example. I believe we can—and should—expand into several other areas. By proactively identifying at-risk individuals and implementing a streamlined genetic testing and education process, we can deliver important benefits for all stakeholders: earlier identification and prevention of serious conditions, more targeted and informed therapies and care, better patient outcomes, and reduced costs.