Analyzing patients’ genomes multiple times eases the burden on primary care physicians

Genetic testing continues to increase in popularity each year. In 2012, the market offered 1,081 new genetic tests. That count ballooned to 6,214 in 2022. The availability of genetic testing has made its way into the clinical setting, with a notable uptick in patients who receive genetic testing and doctors, including primary care physicians, who have access to patients’ genetic testing results as part of their electronic health records. Some doctors order DNA tests for patients through specialized sequencing labs; in other cases, patients can purchase a DNA test themselves and have the results sent to their primary care physician. Additionally, some larger hospitals have sequencing labs in-house.

From breast cancer to cardiovascular disease to rare diseases to longevity to functional health, next-generation sequencing (NGS) testing offers insight into a variety of diagnoses and applications. As such, doctors increasingly turn to NGS testing, including whole genome sequencing (WGS), to improve diagnosis and treatment plans for their patients. Of note, primary care physicians can use genetic tests to support their patients with chronic conditions, including cardiovascular disease, mental disorders and diabetes. The benefits of WGS compound in real time, as new insights come to light that connect a particular genomic component to health indications, make ongoing analysis — rather than a onetime analysis — of a patient’s whole genome helpful. In addition, genomic testing has become increasingly accurate, empowering primary care physicians to leverage genomic information about a particular patient to more quickly and accurately support that patient’s health outcome.

Genomic analysis shortens timelines to solutions

With genomic testing options, physicians can more quickly flag maladies and also leverage pharmacogenomics to speed up timelines to selecting effective treatments, all based on a patient’s genomic profile. For example, a patient might respond, or not, to a particular medication or dosage due to their genetic profile; some medications might induce an adverse drug reaction for a particular patient, which a NGS genomic analysis could flag in advance. Sequencing the patient’s whole genome — rather than DNA microarray-based technologies, which have significant limitations — can offer insights for physicians so they can choose a medication most likely to work for the patient and potentially avoid adverse drug reactions. Analyzing the patient’s whole genome more than once (i.e., reanalysis) can further support doctors in flagging potential issues on an ongoing basis, helping them address potential problems quickly.

With primary care physicians often overworked and facing burnout, such ongoing genomic analysis stands to benefit both doctors and patients alike: getting patients answers faster so they stay healthier and reducing the number of times physicians need to see patients for trial and error selection of medications to see which works best. For example, WGS can help a primary care physician not only note which medication a patient might respond well to but also offer support in tailoring the dosage based on that patient’s pharmacogenomic profile, preventing unnecessary repeat visits to adjust or switch a medication. With each additional analysis of the genomics sequence, doctors can further assess for new variant connections that come to light. Of note, WGS provides far broader variant detection than microarray-based assays, capturing single-nucleotide variants, structural variants, copy number variations and genetic regulatory changes across the entire genome. Since WGS generates a complete and reusable data set, it avoids the need for retesting as new genes, biomarkers or guidelines emerge — something microarrays cannot achieve due to their reliance on predefined probe sets.

Actionable results from testing vary

Despite the potential benefits to physicians of leveraging genomic testing over multiple runs, several hurdles exist when implementing it in practice. For one, genomic testing often comes as a huge data dump each time genomic testing is completed. Yes, WGS and its subsequent analysis can flag both disease indications for a patient and also implications for appropriate dosing; however, physicians may need to sort through pages and pages of data, and would need to know what to look for specifically each time they run the analysis in order to turn those data into action.

As such, for WGS testing results to empower rather than burden primary care physicians, genomic tests need to further analyze the data, and not only the gene mutation and the patient’s potential susceptibility, but also what could be done about it via supplementation, diagnostics and pharmaceuticals. With pharmacogenomics and genomic findings developing quickly and new variant connections being identified yearly, reanalysis testing can support physicians by offering updated analysis of the raw data on what drugs might be most effective given a patient’s particular gene sequence, as well as a potential dosage, helping to alleviate the strain on doctors. Beyond just matching patients with medications and dosing, for a genomic testing tool to work in practice, it should reduce the time for physicians to get answers for their patients, not make more work for the doctor.

Assess NGS bioinformatic genomic technology for key benefits

With a plethora of bioinformatic genomic technologies available to interpret raw NGS sequencing data, physicians have options when selecting which to implement, and these become especially important when considering multiple analyses of WGS over time. Assessing the features of each genomic tool along with the primary care physicians’ budget and needs can help narrow the choice.

1. Capabilities: Some platforms do not require in-house bioinformatics teams, as they provide automated pipelines and clean, clinician-friendly PDF reports. As well, certain options integrate pharmacogenomics, germline and somatic genomics, transcriptomics and epigenomics within a single system, eliminating the traditional silos across analytical tools. This unified multiomics approach gives clinicians and researchers a complete, actionable view of disease biology and therapy options in one place, without requiring technical expertise.
2. Turnaround time: While some workflows require days, modern whole-genome pipelines can run in under 48 hours, with pharmacogenomics completed in 30 minutes and germline or somatic analyses in as little as four hours. Such speed enables true time-sensitive clinical decision-making and more immediate therapeutic adjustments.
3. Cost: When selecting a technology, pricing can range from the thousands to under $100 per WGS analysis. Physicians can cross-check the budget against accuracy and other features to select an appropriate match. Choosing an accurate and validated analysis pipeline with a lower price point can empower physicians to analyze the sequence repeatedly over time.

Selecting and implementing a genomic technology platform and running multiple analyses over time can empower physicians. With the right tool in place, both primary care physicians and patients alike should benefit from reduced timelines, lower health care costs over time and improved health outcomes.

Marco Schito, Ph.D., is scientific and business development director at UGenome AI, a biotechnology company focusing on developing genomics and bioinformatics software for personalized medicine with both research and clinical applications.

Jayden Lee, Pharm.D., EMBA, is co-founder and chief genomics officer at UGenome AI, a biotechnology company focusing on developing genomics and bioinformatics software for personalized medicine with both research and clinical applications.