Patient for Life™ Program

Ambry’s promise to families searching for answers to understand rare and undiagnosed conditions: we won’t stop looking. As new scientific discoveries emerge, we stay committed to uncovering insights that can help explain genetic test results over time.

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Support That Continues Over Time

The Patient for Life program supports patients and families beyond initial test results. As science advances, genetic findings that were once unclear may be better understood and help confirm a diagnosis later.

We don’t limit the number of requests a healthcare provider can make or the timing of requests. When there’s been a significant change to a patient’s clinical phenotype, a healthcare provider can make a request for an exome reanalysis report.

Exome Reanalysis Request

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.

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Patient for Life Drives Most Reclassifications, Through Lab-Led Reanalysis

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), ^[2] 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,^[3] 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. ^[4]

clinician-vs-laboratory-initiated-reclassification[1]

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.^[1] Most provider-initiated reanalyses did not result in any reclassification, emphasizing the value of continuous, proactive review in identifying clinically relevant updates.

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. ^[5] Patient for Life ensures all patients benefit from new genetic discoveries.

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.

Download Patient for Life: An Innovative Laboratory-Initiated Cohort Reanalysis Program

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.