More Answers for More Patients
Patient for Life provides continuous, expert-led reanalysis of exome data, proactively updating reports as new scientific discoveries are made—ensuring patients benefit from the latest genomic insights.
This service is provided indefinitely, at no additional cost to the patient or family.
Exome as a Living Test
Patient for Life transforms exome sequencing into a living test—one that evolves as new scientific evidence emerges.
This proactive approach allows us to identify diagnoses for an additional 5% of patients who initially receive negative or uninformative results, increasing the diagnostic yield over time.
How Patient for Life Works
1. Research Review
Ambry's clinical scientists review the latest findings on gene-disease relationships and updates to variant classifications.
2. Continuous Reanalysis
Patient data is proactively and continuously reanalyzed across all exome tests, ensuring that emerging evidence is always considered.
3. Revised Reporting
Ordering providers receive a fully updated report detailing the reclassification, along with outreach from a Genomic Science Liaison to discuss the new findings and their implications.
Lab-driven Reanalysis through Patient for Life Provides Most Reclassifications
While most genetic testing labs focus on variant reclassification, which is important and recommended by guidance from the American College of Medical Genetics and Genomics (ACMG), over two-thirds of reclassifications are driven by new gene-disease associations rather than variant-level updates.
Each year, over 100 new gene-disease relationships are identified, reflecting the dynamic nature of genomic science. Many genes still have an unclear connection to human disease, underscoring the need for continuous, lab-driven reanalysis to ensure the most up-to-date findings are applied to patient data.
We invest significant resources in a dedicated team of scientists who conduct daily literature reviews and evaluate new evidence through a peer-reviewed, published gene classification scheme. This commitment to discovering new gene-disease associations is what sets Patient for Life™ apart, driving the majority of reclassifications. In fact, 69% of reclassifications are based on these new gene-disease relationships, rather than variant reclassifications.
This focus on continuous reanalysis ensures that the most up-to-date findings are always applied to patient data.
Learn more about our excellence in gene classification and variant classification.
Published data demonstrates the power of a lab-driven approach. Reanalysis initiated by the laboratory led to a 54% diagnostic reclassification rate (p < 0.0001), compared to just 4% for clinician-initiated requests. Most provider-initiated reanalyses did not result in any reclassification, emphasizing the value of continuous, proactive review in identifying clinically relevant updates.
Unlimited reanalysis based on new clinical information
Patient for Life proactively handles updates from new gene or variant classifications, so healthcare providers only need to request a reanalysis when there is new clinical or family history information that could impact the results.
We don't limit the number of requests you can make, restrict the timing of requests, or charge additional fees.
When there's been a significant change to your patient's phenotype, you can make a request using the following form:
Exome Reanalysis Request
Equitable Access to Genetic Discovery
Patient for Life reduces healthcare disparities based on race and ethnicity. Minority groups, particularly those of African/Black ancestry, have higher rates of variants of uncertain significance (VUS) and lower rates of diagnostic test results on exome testing. In a recent study, they were less likely to have a provider-initiated reanalysis, but most likely to benefit from it. Patient for Life ensures all patients benefit from new genetic discoveries.
Expert support for better informed medical management
Ambry's clinically knowledgeable Genomic Science Liaisons are available to help provide education about results and answer questions each time you receive an updated report.
Contact Us
Download the White Paper
Detailed information about how our Patient for Life program compares to traditional workflows for reanalysis is available in this white paper. Download now for a deeper view.
ExomeNext® and ExomeReveal™
Ambry was the first lab to offer clinical exome sequencing. With nearly 15 years of experience, we continue to lead in providing high-quality insights for patients with undiagnosed rare diseases and neurodevelopmental disorders. Our latest innovation, ExomeReveal, adds RNA analysis to exome testing—maximizing diagnostic yield and uncovering more answers for families.
Offering Peace of Mind for Families
Michelle, Owen's mom, shares how Patient for Life gives her the confidence that an entire team is continuing to search for answers for her family, acting as partners on the diagnostic journey.
Case Studies Capture the Patient for Life Difference
Listen as our genomic science liaison team describes cases where Patient for Life has provided new answers, sometimes years after initial testing.
Finding an Answer with Patient for Life: An Interesting Case
Identifying a Dual Diagnosis with Margo Gallegos
CaseStudy - Neurogenetics - Victoria Suslovitch
ALPK1: New Gene-Disease Characterization Ends the Diagnostic Odyssey
Leading with Science - Brad Power
Finding Answers - KCNH5-related Epileptic Encephalopathy
References
- Towne MC, Huang J, Saliganan S, et al. Impact of laboratory-driven proactive reanalysis: reclassification to positive in 5% of initially negative or uncertain exome sequencing cases. Genet Med. 2025;101464. doi:10.1016/j.gim.2025.101464
- Deignan JL, Chung WK, Kearney HM, et al. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019;21(6):1267-1270. doi:10.1038/s41436-019-0478-1
- Ambry Genetics, internal data on file.
- OMIM Pace of Gene Discovery Graph. Available at https://www.omim.org/statistics/paceGraph. Accessed 6/12/2024.
- Giles A et al. Addressing equity in exome sequencing: Proactive reanalysis helps to reduce racial, ethnic and ancestral disparities. Platform presented at: National Society of Genetic Counselors conference; October 2023; Chicago, IL, USA.