New Study Shows Impact of Ambry Genetics' Patient for Life™ Program on Rare Disease Diagnosis
The term 'rare disease' comprises more than 7,000 diseases, each affecting fewer than 200,000 Americans, collectively impacting 25 million to 30 million individuals. 1 Exome sequencing tests – which examine the coding regions of genomic DNA – are typically indicated for evaluating children with congenital birth defects, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorder and epilepsy. 2 Ambry Genetics was the first commercial laboratory to begin offering clinical diagnostic exome sequencing testing in 2011 3, which may bring new hope to thousands of patients and families searching for the underlying genetic cause of rare, undiagnosed diseases.
Ambry Genetics' Patient for Life program is supported by a dedicated team of scientists who continuously analyze emerging data on gene-disease associations and variant pathogenicity. This evidence is then used to reanalyze data from previously tested individuals, providing proactive reporting of clinically relevant findings. This systematic approach helps alleviate the burden on clinicians to request exome reanalysis. As demonstrated in the Genetics in Medicine study analyzing exome cases from 2012 to 2021, 23% of cases underwent at least one reanalysis, with 5% of initially negative or uninformative case results moving from 'unsolved' to 'solved.' Among cases where lab-driven reanalysis occurred via Ambry Genetics' Patient for Life program based on newly published data, 54% led to a diagnostic reclassification, compared to just 4% of reanalyses completed following clinician requests. Furthermore, of the reanalyzed cases that led to diagnostic reclassification, 80% involved the identification of a new diagnosis that may have been delayed or missed without the laboratory-initiated Patient for Life reanalysis workflow, highlighting the program's efficiency in helping providers deliver timely and accurate diagnoses.
'Following a multi-year diagnostic journey, Ambry Genetics' Patient for Life program helped my son receive a diagnosis for his rare disease more than a year after his initial exome test when new research established the clinical significance of his ZMYM2 mutation,' said Jordan Hinrichs. 'Without this program, we might still be searching for answers. Discovering the cause of my son's condition brought immense relief—and opened the door to a community of families on the same journey. This program didn't just provide a diagnosis. It gave us connection and hope.'
Tom Schoenherr, CEO of Ambry Genetics, emphasized the importance of the program: 'With more than 100 new gene-disease associations discovered every year, this study underscores the necessity of the work our scientists do to support patients seeking rare disease diagnoses. Unlike some laboratories who provide limited or only clinician-driven reanalysis services, we believe we have a responsibility to patients to proactively update clinical reports as new clinically relevant scientific discoveries are made, which may benefit the patients who need answers.'
For more information about Ambry Genetics' Patient for Life program, visit https://www.ambrygen.com/providers/patient-for-life.
ABOUT AMBRY GENETICS®
Ambry Genetics, a wholly owned subsidiary of Tempus, translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing and aims to improve health by understanding the relationship between genetics and disease. Over its 25-year history, Ambry has remained committed to empowering patients to make informed healthcare decisions based on their genetic data.
ABOUT TEMPUS
Tempus is a technology company advancing precision medicine through the practical application of artificial intelligence in healthcare. With one of the world's largest libraries of multimodal data, and an operating system to make that data accessible and useful, Tempus provides AI-enabled precision medicine solutions to physicians to deliver personalized patient care and in parallel facilitates discovery, development and delivery of optimal therapeutics. The goal is for each patient to benefit from the treatment of others who came before by providing physicians with tools that learn as the company gathers more data. For more information, visit tempus.com.
FORWARD LOOKING STATEMENTS
This press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended (the 'Securities Act'), and Section 21E of the Securities Exchange Act of 1934, as amended, about Tempus and Tempus' industry that involve substantial risks and uncertainties. All statements other than statements of historical facts contained in this press release are forward-looking statements, including, but not limited to, statements regarding the potential impact of Ambry Genetics' research and publications; the contributions of Ambry Genetics' research and findings to the larger scientific community and the use of its products and services to advance clinical care for patients are forward-looking statements. In some cases, you can identify forward-looking statements because they contain words such as 'anticipate,' 'believe,' 'contemplate,' 'continue,' 'could,' 'estimate,' 'expect,' 'going to,' 'intend,' 'may,' 'plan,' 'potential,' 'predict,' 'project,' 'should,' 'target,' 'will,' or 'would' or the negative of these words or other similar terms or expressions. Tempus cautions you that the foregoing may not include all of the forward-looking statements made in this press release.
You should not rely on forward-looking statements as predictions of future events. Tempus has based the forward-looking statements contained in this press release primarily on its current expectations and projections about future events and trends that it believes may affect Tempus' business, financial condition, results of operations and prospects. These forward-looking statements are subject to risks and uncertainties related to: Tempus' financial performance; the ability to attract and retain customers and partners; managing Tempus' growth and future expenses; competition and new market entrants; compliance with new laws, regulations and executive actions, including any evolving regulations in the artificial intelligence space; the ability to maintain, protect and enhance Tempus' intellectual property; the ability to attract and retain qualified team members and key personnel; the ability to repay or refinance outstanding debt, or to access additional financing; future acquisitions, divestitures or investments; the potential adverse impact of climate change, natural disasters, health epidemics, macroeconomic conditions, and war or other armed conflict, as well as risks, uncertainties, and other factors described in the section titled 'Risk Factors' in Tempus' Quarterly Report on Form 10-Q for the fiscal quarter ended March 31, 2025 filed with the Securities and Exchange Commission ('SEC') as well as in other filings Tempus may make with the SEC in the future. In addition, any forward-looking statements contained in this press release are based on assumptions that Tempus believes to be reasonable as of this date. Tempus undertakes no obligation to update any forward-looking statements to reflect events or circumstances after the date of this press release or to reflect new information or the occurrence of unanticipated events, except as required by law.
1 Sroberts. Rare Disease Facts and Statistics | NORD. National Organization for Rare Disorders. https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/. Published November 1, 2022.
2 Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6
3 Ambry Genetics. Ambry genetics first to offer exome sequencing service for clinical diagnostics. PR Newswire. Available at:
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