How to scale genomics to transform precision diagnostics

Unlocking the power of genetics to provide meaningful answers to patients when they matter most is at the crux of precision diagnostics. As technologies advance, costs fall, and evidence builds, genomic sequencing has great potential to transform the trajectory of patient care. It will do so by shortening the diagnostic odyssey. It will guide and speed up more personalized and effective treatment decisions. And it will improve patient outcomes more than ever before. For innovation to truly scale, it will require deep collaboration and seamless integration across the healthcare ecosystem.

BUILD A STRONGER PARTNERSHIP ECOSYSTEM

Making genomic sequencing a standard practice in patient care at scale is not something any organization can accomplish alone. It requires coordinated efforts from providers who identify the clinical need and offer it to patients, as well as health systems integrating testing into care pathways. It also depends on clinical societies broadening their guidelines to include these recommendations, payers expanding access through coverage decisions, and industry partners bringing innovative technologies to the table. These collaborations create the synergies necessary to advance genomics from a specialty tool to a standard-of-care approach. Working together, we can help ensure that patients across diverse populations benefit from advances in precision diagnostics.

This partnership-driven approach also accelerates the translation of genomic findings into clinical action. When clinicians, lab partners, and digital health platforms work together, the pathway from sample collection to diagnosis becomes more streamlined. Patients ultimately see faster, more actionable results. In a rapidly evolving field like genomics, this type of collaboration is key.

APPROACH CARE THROUGH A COMPREHENSIVE MULTIOMIC LENS

Genetic testing has traditionally involved assessing just the DNA for changes that might cause disease. More recently, a multiomic approach to care that involves looking at data from other “omics” has been pursued. These include transcriptomics, metabolomics, and methylomics.  By layering these and other datasets, multiomics can provide a dynamic, functional view that can reveal disease mechanisms beyond a DNA test alone. Incorporating multiomic data can make all the difference in complex rare diseases and inherited conditions where a diagnosis is otherwise elusive.

The powerful impact of a multiomic approach is best illustrated using a real-world case.

Reed was just 18 months old when his parents, Kelly and Chris, began noticing differences in his development, including delays in speech and motor skills, as well as involuntary movements. What followed were years spent navigating waiting rooms, specialist appointments, and numerous tests that offered few clear answers, making it difficult to make informed decisions about his care.

It was not until the family pursued whole genome sequencing (WGS), followed by RNA-seq, that they gained meaningful insight into a possible underlying contributor. WGS identified a variant in the FOXP4 gene, which is known to play a role in regulating other genes involved in brain development, speech, and motor coordination. To better understand the functional impact of this variant, RNA-seq was performed and demonstrated abnormal splicing associated with the FOXP4 variant, supporting its classification as likely pathogenic.

While this finding did not explain all of Reed’s medical and developmental challenges, it provided important biological context and helped clarify one significant factor contributing to his clinical picture. The combination of WGS and RNA-seq marked a turning point for the family, enabling more informed discussions with clinicians and supporting a more precise, individualized approach to Reed’s ongoing care.

INNOVATION STARTS BEHIND THE SCENES

The true potential of precision diagnostics can’t be unlocked without meticulously designed workflows that support each sample from order to result. These behind-the-scenes capabilities are what allow innovation to scale responsibly, and what ensures that patients and providers receive accurate, timely, and clinically actionable answers.

Flexible sample collection options give providers the ability to serve patients where they are, whether in clinics, hospitals, mobile settings, or at home. This flexibility reduces barriers to testing and helps broaden access for patients who may face logistical challenges.

Automated processing and high-throughput systems ensure that every sample moves through the lab with consistent quality and efficiency. This allows organizations to handle increasing test volumes without compromising accuracy or turnaround time. This is an essential capability as more health systems adopt genomic testing at scale.

Finally, seamless electronic health record integration ensures that results flow directly into clinical workflows, making it easier for providers to interpret genomic data and act on it quickly. When clinicians have access to clear, well-structured reports within their existing systems, genomic testing becomes a natural part of patient care.

Together, these operational strengths form the backbone of a world-class customer experience that will make precision diagnostics truly scalable.

Kengo Takishima is chairman and CEO of Baylor Genetics.

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