First health-economic study reveals promising outlook for funding population genomic screening

MedTech & Diagnostics News: The first health-economic evaluation aimed at gauging the impact and cost-effectiveness of adult population genomic screening has been published. This pioneering evaluation focuses on multiple high-risk conditions associated with cancer and heart disease within the public healthcare system.

Approximately 1 in 75 individuals carry pathogenic germline variants associated with conditions such as hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH).

Proven risk-management interventions for these conditions can be lifesaving, especially if made available early. For example, individuals identified with HBOC pathogenic variants, notably in genes like BRCA1 and BRCA2, have access to breast imaging, risk-reducing bilateral mastectomy, and salpingo-oophorectomy to reduce breast and ovarian cancer risk. For Lynch syndrome, aspirin use and regular colonoscopy can reduce colorectal cancer risk, and hysterectomy with bilateral salpingo-oophorectomy can reduce endometrial and ovarian cancer risk. While for FH, statins and other cholesterol-lowering medicines markedly reduce the risk of premature coronary heart disease.

Despite the availability of these interventions, the rates of identifying these inherited conditions within the general population remain disproportionately low, primarily due to stringent eligibility criteria for publicly-funded genetic testing.

To bridge this gap, Australia has initiated the DNA Screen national pilot study. This study aims to offer combined screening for HBOC, LS, and FH to 10,000 adults aged 18 – 40 years from the general population. The primary objective is to assess the real-world feasibility of implementing population genomic screening and its efficacy in identifying individuals at high risk for these conditions.

“The resulting savings through early detection or prevention of cancer and heart disease achieved by genomic screening would exceed AU$394 million, including AU$198.97 million saved on coronary heart disease costs, AU$72.99 million saved on cancer treatments, and AU$15.54 million of savings related to death.

“Given the total estimated net cost of genomic screening to the modelled population (AU$825.54 million), this translates into a cost-effective ICER in the Australian healthcare system of AU$36,252/YLL and AU$23,963/QALY gained – well below the established willingness-to-pay [WTP] threshold of AU$50,000/QALY gained. Threshold analysis indicated that cost-effectiveness would be maintained under this threshold for per-test costs up to AU$325,” the authors wrote.

Furthermore, to put this in perspective, the study compared the cost-effectiveness of combined genomic screening with existing national screening programs. For instance, the national breast screening program (BreastScreen Australia) offers biennial mammography to 50–69-year-old women, with an ICER range of $40,279–65,065 per life-year saved (LYS). The National Cervical Screening Program offers 5-yearly human papillomavirus testing for 25–74-year old women (ICER of AU$16,632/LYS). The National Bowel Cancer Screening Program offers biennial faecal occult blood testing to 50–75-year-old men and women (ICER of AU$3380/LYS). Thus, offering combined genomic screening would fit within the acceptable cost-effectiveness range of these programs.

However, the authors stress the imperative need to consider ethical and societal implications alongside the logistical challenges. These encompass public education on genomics, establishing robust informed consent frameworks, safeguarding against genetic discrimination, and ensuring streamlined and timely access to downstream clinical care and counselling services for identified high-risk individuals.

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