More Answers for More Patients
Our Patient for Life program provides continuous reanalysis and proactive updates to exome reports as new scientific discoveries are made.
This service is provided indefinitely, and at no additional cost to the patient or family.
Exome as a Living Test
Patient for Life turns our exome into a living test.
Over time, this proactive process allows us to find answers for an additional 5% of patients who initially have negative or uninformative test results.
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
Patients' data are continuously analyzed based on new scientific findings, across all exome and neurology panel tests.
3. Revised Reporting
Ordering providers are issued a fully updated report detailing the reclassification and receive outreach from a genetic counselor to discuss the new findings.
Lab-driven Reanalysis through Patient for Life Provides Most Reclassifications
When most genetic testing labs talk about reclassification, they’re referring to variant reclassification. This process is important and recommended by guidance from the American College of Medical Genetics and Genomics.
However, over two-thirds of reclassifications are based on new gene-disease associations, not on variant-level reclassification. There are still a lot of genes whose relationship with human disease is not understood. In fact, over 100 new gene-disease associations are characterized every year.
We dedicate an entire team of scientists to daily literature reviews and evaluation of new evidence through a peer-reviewed, published gene classification scheme. This investment of resources in new gene-disease discovery is one of the things that sets Patient for Life apart.
Learn more about our excellence in gene classification and variant classification.
Unlimited, no-cost 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.
Unlike other labs, 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 or family history, you can make a request using the following form:
Exome Re-analysis
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 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®
Ambry was the first lab to offer clinical exome sequencing. Now with almost 15 years of experience, we provide expert analysis, detailed information on novel discoveries, and interpretation for otherwise undiagnosed patients, revealing a clearer path to better informed medical care.
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.
Identifying a Dual Diagnosis with Margo Gallegos
Leading with Science - Brad Power
CaseStudy - Neurogenetics - Victoria Suslovitch
Finding an Answer with Patient for Life: An Interesting Case
Finding Answers - KCNH5-related Epileptic Encephalopathy
ALPK1: New Gene-Disease Characterization Ends the Diagnostic Odyssey
References
- Smith ED, Radtke K, Rossi M, et al. Classification of genes: Standardized clinical validity assessment of gene-disease associations aids diagnostic exome analysis and reclassifications. Hum Mutat. 2017;38(5):600-608. doi:10.1002/humu.23183
- 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.