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Preventive Genomic Screening of Young Adults Could be Cost-Effective, Australian Research Suggests

NEW YORK (GenomeWeb) – A new model suggests population-based preventive genomic screening of young adults could be cost-effective.

A team of Australian researchers examined whether offering genomic screening for hereditary cancers and preconception carrier screening to young adults would reduce the number of cancers and pediatric diseases. As they reported in Genetics in Medicine, the researchers found through their modeling that offering screening through a single-payer system would not only reduce the number of cancer and childhood genetic disease cases but could be cost-effective and potentially even cost-saving.

"[O]ur model demonstrates significant cost-effectiveness and preventive potential for this approach," Monash University's Paul Lacaze and his colleagues wrote in their paper. "We demonstrated this using only a limited set of genes and conditions, using conservative intervention uptake estimates, following current standard of care, and publicly funded health services."

The researchers focused on the young adult population — individuals between the ages of 18 and 25 — as they suspect that's when adult population genomic screening may have its highest preventative potential. At that age, individuals with a high risk of familial cancer might be able to be identified before any symptoms arise and preconception carrier screening could be conducted prior to the average age of beginning to have children.

The model focused particularly on screening for seven conditions — ovarian, breast, endometrial, and colorectal cancer, and cystic fibrosis, spinal muscular atrophy, and fragile X syndrome — in the BRCA1/2, MLH1/MSH2, CF, SMA, and FXS genes in 2,688,192 young adults in Australia.

The model assumed a 71 percent uptake rate which the researchers noted was based on previous findings, and estimated per-test costs to range between A$200 to A$1,200 (US$140 to US$850).

Based on this uptake, the researchers estimated that the population cancer testing would reduce the number of cancers due to pathogenic variants in BRCA1/2 or MLH1/MSH2 by 28.8 percent and prevent 1,270 deaths. They likewise calculated that preconception carrier screening would reduce the number of cystic fibrosis, spinal muscular atrophy, and fragile X syndrome cases by about 24.8 percent, preventing 491 cases.

At a combined test cost of A$400, the researchers found this population-based preventive genomic screening to be cost-effective, using a cost-effectiveness threshold of below A$50,000 per disability-adjusted life year (DALY) prevented.

Screening at this price point, they noted, would require the health system to spend A$622 million to cover the costs of screening, confirmation testing, and genetic counseling. But screening would save A$311 million in medical costs through prevention, leading to a net health system cost of A$302 million, they reported. This leads to an incremental cost-effectiveness ratio (ICER) of AUD$4,038 per DALY, a standard measure of cost-effectiveness.

If the cost of the test were to be lower, at AUD$200 — which the researchers said could be possible in the near future — there could even be nearly a cost savings to screening. In this scenario, they estimated an ICER of A$22 per DALY.

The researchers cautioned, though, that their model was simplified, does not account for cascade testing or the use of preimplantation genetic diagnoses, and did not include all conditions that could be part of screening such as Tay-Sachs disease.

They also noted that implementing such a screening system would have to be done ethically so that individuals are not pressured to take part and are not influenced with respect to personal reproductive decisions.

"Considering population genomics from the context of public health screening could help to deliver a level of quality control, standardization, and equity of access that may not be achievable in other health systems," the researchers wrote. "However, the many possible benefits of prevention will only be achievable with adequate health service scalability, public education, and ethical oversight."