New Study Shows Impact of Ambry Genetics’ Patient for Life™ Program on Rare Disease Diagnosis
Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes
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’ 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
For more information about Ambry Genetics’ Patient for Life program, visit https://www.ambrygen.com/providers/patient-for-life.
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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.
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1 Sroberts. Rare Disease Facts and Statistics | NORD.
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
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