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Bolstering Personalized Medicine’s Evidence Base, New Economic Modeling Study Shows Broad-Based Genomic Profiling Cost-Effective for Diagnosing Infants With Suspected Rare Genetic Diseases

An economic modeling study commissioned by the Personalized Medicine Coalition (PMC) and published online Friday in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), suggests that the use of next-generation sequencing (NGS)-based tests to profile whole genomes may be the most cost-effective strategy for diagnosing acutely ill infants who are less than a year old with suspected rare genetic diseases. The findings also suggest that under certain assumptions, NGS-based testing may be a cost-effective strategy for uncovering disease causes among all children with undiagnosed rare diseases who are under the age of 18. By analyzing the circumstances under which the sequencing of a patient’s entire genome (whole-genome sequencing) or the regions of the genome known to code for proteins (whole-exome sequencing) can deliver cost-effective diagnoses for infants and children with suspected rare diseases, the research, which was spearheaded by researchers at Tufts Medical Center with assistance from representatives of PMC, Illumina, and Nicklaus Children’s Hospital, promises to help guide health care providers and payers toward an evidence-based approach to the implementation of personalized medicine, which has long promised to make health care more efficient through the use of genetically based diagnostics to reveal the root causes of various diseases.

For Infants Less Than a Year Old: Cost Saving — $19,764 per Life Year Gained

In comparison to a standard of care that relies on a series of clinical evaluations, laboratory diagnostics, and sometimes small-scale genetic testing for one or a few genes at a time, the new article, titled “Cost-Effectiveness of Exome and Genome Sequencing for Children With Rare and Undiagnosed Conditions,” indicates that under the most optimistic set of assumptions for infants who are less than a year old, the use of whole-genome and whole-exome sequencing saves money for the health care system over the course of infants’ lifetimes by eliminating the need for additional diagnostic tests and improving outcomes in patients with treatable rare diseases. For these same patients in the least optimistic scenario, the model estimates that NGS-based testing options incur net lifetime costs of $18,877 to $19,764 for each quality adjusted life year (QALY) that infants receive thanks to testing-informed treatments. These figures compare favorably with cost-effectiveness standards commonly accepted in the United States, where researchers generally assign a value of $100,000 – $150,000 to one QALY.

For Children Under Age 18: $119,705 — $490,047 per Life Year Gained

For all children under the age of 18, the model suggests that NGS-based testing can deliver additional QALYs at a cost of between $119,705 and $490,047, depending on the assumptions used to guide the analysis.

“By spotlighting the potential benefits of NGS-based testing for diagnosing rare diseases especially among patients in the earliest stages of life, this study underlines the economic gains that are available to health care systems that embrace a new era of personalized medicine in which physicians use diagnostic tests to guide the right therapy to the right patient at the right time,” said PMC President Edward Abrahams.