Preventive Genomic Screening In Young Adults Highly Cost Effective

A new model shows that universal preventive genomic screening for multiple conditions in early adulthood could be highly cost-effective in a single-payer health care system, according to a study published Feb. 18 in Genetics in Medicine. Population screening could significantly reduce the incidence of and mortality from hereditary cancers, as well as the burden of severe childhood-onset genetic disease, compared with targeted testing, but ethical issues remain, the authors say.

Up until now, most modeling of adult genetic screening has been limited to single genetic conditions in targeted, high-risk populations, rather than the general population. However, there is increasing evidence that the current model of family history- or clinical criteria–based gene testing for hereditary cancer is failing to reach many at-risk individuals.

The present study combined modeling for familial cancer and preconception carrier screening for conditions that have clinical guidelines and reimbursed health services available in Australia for identified individuals or couples. The model included screening of 2,688,192 individuals (all adults aged 18 to 25 years in Australia) for pathogenic variants in BRCA1/BRCA2/MLH1/MSH2 genes, and carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), all of which have an evidence base demonstrating that early identification of risk has high clinical impact.

The model assumed 71 percent testing uptake (substantially higher than the current estimated rates of targeted testing of 15 percent for cancer gene testing and 5 percent for preconception carrier screening, the authors say). Per-test costs included in the model ranged from AUD$200 to $1,200 (~USD$140 to $850) and are based upon current government-reimbursed price for hereditary breast and ovarian cancer testing (AUD$1200) and the prepair™ carrier screen (AUD$385). Total costs included genetic counseling, surveillance, and interventions (reimbursed only) for at-risk individuals and couples. Cost-effectiveness was defined by the willingness-to-pay threshold of AUD$50,000 per disability-adjusted life year (DALY) prevented.

The researchers found compared to targeting testing, that population screening would reduce variant-attributable cancers by 28.8 percent, cancer deaths by 31.2 percent, and the three severe childhood-onset genetic diseases by 24.8 percent.

In isolation, only population screening for breast cancer was cost-effective. However, combined testing for hereditary breast and ovarian cancer, combined testing for Lynch syndrome, and combined carrier screening were all cost-effective, demonstrating the efficiency of combined screening. Population testing for all four cancers combined was highly cost-effective, independently of carrier screening (AUD$10,656/DALY prevented). Combined screening for all seven conditions together was cost-effective up to and including AUD$1,200 per test.

“Screening at a cost of AUD$400 was found to be highly cost-effective,” write the authors led by Lei Zhang, Ph.D., from Monash University in Australia. “However, if AUD$200 per-test could be achieved, screening could become cost-saving for the health system, providing a significant platform for the consideration of health system–funded screening.”

The authors say that for the benefits of population-based genomic screening to be achieved, screening would require scalability, public education to drive informed consent, and ethical oversight.

“Funding decisions based on imputed cost-savings must not result in implicit pressure on individuals to violate personal ethics to reduce financial burden on society,” write the authors. “We strongly believe that any decision regarding individual health interventions should be grounded in informed consent and personal autonomy, without presumed obligation or implicit pressure.”

Takeaway: Combining hereditary cancer and carrier screening for preventive population genomic screening in young adults appears to be highly cost-effective for single payer systems.