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Good Start Genetics, Evidera Publish Data Demonstrating Cost Effectiveness of NGS Carrier Screening

NEW YORK (GenomeWeb) – Good Start Genetics and health economic research firm Evidera reported today that next-generation sequencing-based carrier screening is cost effective when compared to carrier screen tests based on genotyping or no screening at all.

In a study published late last month in Molecular Genetics & Genomic Medicine, researchers from Good Start and Evidera used data from published literature and population surveys to model 1,000,000 couples — they compared NGS-based testing to genotyping-based testing and to no testing at all to assess healthcare associated costs, clinical outcome benefits, and overall cost effectiveness.

The researchers found that both types of carrier testing were cost effective compared to no screening for 14 conditions for which medical societies recommend screening. In addition, they concluded that NGS-based screening was more cost effective than genotyping-based screening.

In a statement, Good Start President and CEO Don Hardison said that health plans would "benefit from NGS-based carrier screening as it can lower disease incidence and lead to significant cost savings." In fact, the company has previously said that one goal of doing a cost-effectiveness study was to encourage insurance companies to reimburse for such tests. Last year, Good Start became an in-network laboratory partner of UnitedHealthcare.

The researchers used US census data and published data on allele frequency for disease-causing mutations for 14 recessive disorders, to model 1,000,000 couples representative of a US sample. They then used published data on Good Start Genetics' test as well as genotyping-based carrier tests from commercial providers to model the impact of each test on health outcomes and economics, and compared those results to health outcomes and economics of not being screened.

The researchers based detection rates on the different methodologies from previously published studies and databases. For instance, the company presented data at last year's American College of Obstetrics and Gynecologists' meeting that it carried out with Texas Fertility Center in Austin showing that between 16 percent and 22 percent of the carriers it detected would have been missed by traditional genotyping methods.

For the purposes of the model in the current study, the researchers predicted that NGS would detect 10 percent more carriers than genotyping. From the 1 million simulated couples, the researchers estimated there would be 1,457 couples in which both partners were carriers of a mutation that caused the same disorder.

The model accounted for the fact that couples would make different reproductive decisions following a positive preconception result, including the probabilities of deciding to pursue assisted reproductive technology, opting to pursue natural conception and screening the fetus, and deciding to not pursue conception. It also accounted for the possibility of couples receiving negative carrier screening results but still having an affected baby.

Compared to no screening, NGS-based testing reduced lifetime treatment costs for the 14 disorders by 66 percent. For instance, treatment costs for cystic fibrosis alone would be reduced to $123 million from $382.6 million with an NGS-based carrier screening test.

Treatment costs across all 14 disorders were $415 million, $159 million, and $140 million for no screening, screening via genotyping, and NGS screening, respectively.

Despite these savings, total healthcare costs were still more expensive for both screening methods when the costs of screening, assisted reproductive technology, prenatal fetal testing, and pregnancy termination were taken into account. Total healthcare costs were $415 million, $683 million, and $670 million for no screening, genotyping testing, and NGS-based testing, respectively.

Nonetheless, carrier screening had benefits over no screening in both the number of affected births and life years gained. The NGS-based screen reduced affected births by 61 percent, compared to no screening, the researchers found. The NGS testing also reduced affected births by 13 percent compared to the genotyping screen.

In addition, the authors added that they were conservative in their estimation of the various decisions that couples would make after learning they were carriers. If they had assumed that all couples had taken steps to not have an affected child, the NGS strategy would have been even more effective, preventing 44 percent more affected births than the genotyping strategy.

NGS-based carrier screening also resulted in an additional 8,636 life years gained compared to no screening, while genotyping-based carrier screening resulted in 7,918 life years gained.

While the upfront testing costs were higher for NGS than genotyping — $525 million compared to $519 million — the overall lifetime cost was still lower for NGS, at $670 million, compared to $683 million because "the savings in treatments of genetic disorders are greater than the additional costs associated with genetic screening," the authors wrote. "From a cost-effectiveness perspective, while NGS screening offered the greatest benefit in clinical outcomes, it did so at a lower overall healthcare cost as compared with genotyping."