In recent years, Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) have emerged as groundbreaking tools in the field of genomics, offering providers and patients new insights into the genetic etiology of complex conditions and rare diseases.
However, for healthcare providers, the question is often, “How will results from WGS and WES impact patient management and inform treatment options?” Here are several keyways WGS and WES can guide clinical decisions to enhance patient outcomes.
Getting a Result Can Mean Getting a Diagnosis
Receiving the report findings from WGS or WES can be the critical step in obtaining a diagnosis. Many patients may have been through a long diagnostic journey, undergoing numerous tests and evaluations and still not having a clear answer for their symptoms. A definitive result from comprehensive genetic testing can provide clarity, confirming or ruling out suspected conditions, and offering a clearer path forward for care.
Even in cases where the result is negative, the information still holds significant value. A negative result can rule out suspected genetic conditions, helping to refine the diagnostic process and guide healthcare providers in narrowing down the potential causes of the patient’s symptoms.
Moreover, as genomic knowledge continues to evolve, the data from WGS and WES can be reanalyzed in light of new discoveries, allowing healthcare providers to update care plans without requiring additional testing. This future-proofing aspect allows patients to stay informed about new genetic insights without requiring repeated testing.
Identifying Treatment Options and Adjusting Medical Management
One of the most significant ways WGS and WES impact patient care is by identifying genetic variants that can directly inform treatment decisions. By pinpointing specific genetic variations, clinicians can select therapies that are most likely to be beneficial for the patient, reducing the generalized approach and providing more targeted care. For example, antisense oligonucleotide (ASO) therapy has been effective for a broad spectrum of conditions but requires a genetic diagnosis1.
Genetic findings can also reveal risks for other medical complications that were not initially suspected, prompting referrals to the appropriate specialists. Additionally, these tests support ongoing patient management by informing monitoring strategies, ensuring that treatment is adjusted as needed over time to address emerging health concerns. Through Rapid WES, two diagnoses were identified in a newborn with seizures, overgrowth, and respiratory failure: epilepsy and Down syndrome. In addition to receiving treatment for epilepsy, the baby could receive standard of care treatment according to guidelines published by the American Academy of Pediatrics.
Ongoing Monitoring: Ongoing monitoring through surveillance protocols, along with lifestyle and environmental modifications, is crucial for managing chronic, complex, and/or genetic conditions.
- Surveillance Protocols: Surveillance protocols are strategic approaches designed to monitor patients over time, especially when early detection of disease progression or complications can significantly impact treatment decisions and patient outcomes. These protocols are essential for managing chronic, complex, and/or genetic conditions, helping healthcare providers track disease progression, catch complications early, and adjust care plans accordingly. By staying proactive, clinical outcomes can often be better for patients than when a diagnosis is made later on.
- Lifestyle and Environmental Modifications: Adjusting lifestyle and environmental factors, such as dietary changes, increased physical activity, or environmental adaptations, can help manage certain genetic conditions more effectively and improve health outcomes for some individuals. For example, research shows that nearly two-thirds of children with Lennox-Gastaut Syndrome (LGS) who follow a ketogenic diet experience up to a 50% reduction in seizure frequency and severity2. These modifications, when integrated into a comprehensive care plan, can enhance quality of life and provide additional support alongside medical treatments.
Informed Family Planning Decisions
Results from WGS and WES provide insights that can be informative to the patient’s family as well. If other members of the family have similar symptoms or are at-risk for a condition, a diagnosis made by WGS or WES can help to best coordinate their own testing and diagnosis. This knowledge can also help guide family planning decisions.
Expanding Access to Clinical Trials and Research Opportunities
A confirmed genetic diagnosis can open doors to clinical trials, offering patients access to emerging therapies that target their specific genetic profile. These trials provide potentially life-saving treatments and contribute to advancing the field of genomics. Participation in clinical trials allows patients to be part of research that could benefit others facing similar health challenges.
Fostering Community
The journey to a diagnosis can often be isolating for families. However, discovering a genetic diagnosis can help patients connect with others having similar diagnoses, whether through family support networks or advocacy groups. This connection fosters a sense of community, offering emotional support and shared understanding as families navigate their challenges.
Rapid Testing for Critical Situations
For patients in urgent medical situations, Rapid WGS or Rapid WES testing with results in just a few days, can expedite diagnosis and facilitate timely interventions. Through Rapid Trio WGS, we were able to diagnose a 2-month-old baby with seizures, feeding difficulties, and fever with primary coenzyme Q10 deficiency. This diagnosis enabled treatment with coenzyme Q10 supplementation and supportive therapies, demonstrating Rapid WGS’s ability to provide a timely diagnosis and support urgent medical management in critical care settings.
Beyond immediate treatment, rapid diagnosis offers key benefits:
- Quick diagnosis can reduce overall healthcare costs, including shorter hospitalization times and the elimination of unnecessary procedures.
- The ability to offer more informed, personalized care for your patients, helping guide post-discharge management.
- Rapid identification of treatment options can help stabilize the patient and provide essential information to interdisciplinary teams, supporting surgical and medical strategies
- Families seeking answers about their child’s condition can receive the crucial insights they need.
Patient Story: How Precision Diagnostics Led to a Tailored Treatment Plan
Savannah’s story is a testament to the power of comprehensive genetic insights. When traditional testing methods fell short and answers seemed out of reach, Whole Exome Sequencing changed everything. Testing revealed several variants in genes related to L-type calcium channels—providing Savannah’s family with the crucial insights needed to guide care and finally end their diagnostic odyssey.
Savannah’s journey began in early childhood when she started experiencing treatment-resistant seizures. Diagnosed with Lennox-Gastaut Syndrome (LGS) at age 5, she faced a challenging road. Over the next 18 years, her doctors tried 26 different treatments for epilepsy. Despite their efforts, her seizures continued, and other symptoms worsened.
A decade ago, Savannah’s doctors turned to exome sequencing to uncover any underlying genetic causes. The results were life-changing: the test revealed several variants in genes related to L-type calcium channels, providing a crucial insight into the etiology of her condition. Based on these findings, Savannah was started on verapamil, a medication used to treat high blood pressure by blocking calcium channels.
Remarkably, within just two weeks of starting the treatment, Savannah experienced a 95% reduction in seizures—a result that has been sustained ever since. This breakthrough drastically changed her life, offering hope and an effective treatment where none had existed before. Watch the video to learn more about Savannah’s diagnostic odyssey and how comprehensive genetic testing changed her care.
Learn more about the LGS Foundation here.
Empowering Providers with Actionable Results
Comprehensive testing like WGS and WES evaluate a broad spectrum of genetic variants and conditions in a single approach, providing a thorough understanding of a patient’s condition. Integrating WGS and WES into patient management allows for a more proactive, precision-driven strategy for patient care. Getting these insights early in the diagnostic journey empowers healthcare providers to move beyond uncertainty, replacing generalized management with targeted, personalized interventions. By making genomic insights a central part of clinical decision-making, providers can optimize both immediate treatment and patient care plans.
As precision medicine continues to advance, integrating WGS and WES into routine practice will be essential for delivering precise, effective care. Savannah’s story, along with those of the NICU patients, demonstrates the profound impact of a comprehensive genetic diagnosis. These insights provide actionable guidance for clinical decisions, improve outcomes, and shape lifelong management strategies. For these patients, the impact is undeniable: when genetic insights drive medical decisions, better outcomes become a reality.
At Baylor Genetics, we ensure that every piece of data serves a singular purpose: improving patient care. By transforming complex genomic information into actionable insights, we empower healthcare providers— regardless of expertise —to transition confidently from uncertainty to informed, personalized decisions, potentially improving patient outcomes at every stage.
Author
Baylor Genetics
References
- Vockley, J., Aartsma-Rus, A., Cohen, J. L., Cowsert, L. M., Howell, R. R., Yu, T. W., Wasserstein, M. P., & Defay, T. (2023). Whole-genome sequencing holds the key to the success of gene-targeted therapies. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 193(1), 19-29. https://doi.org/10.1002/ajmg.c.32017
- Inside One Woman’s Scientific Journey to Treat Her Daughter’s Epilepsy
