According to a study in Monash University Australia, offering population-wide genetic screening for risk of deadly but preventable diseases to young individuals, would save lives and be cost-effective.
The study used health economic evaluation to model combined DNA screening for all adults in Australia aged 18–40 years, to detect risk of three different genetic conditions, such as Hereditary breast and ovarian cancer , a type of genetic high cholesterol called familial hypercholesterolemia and lynch syndrome, a genetic condition which increases the risk of colorectal and other cancers.
All these three conditions can be prevented or treated if detected early. Around 1 in 75 individuals are at high genetic risk of one of these conditions, but most of the people are not aware and therefore not accessing available life-saving interventions.
The modeling study used previous Australian and international evidence to extrapolate whether widespread preventive DNA screening for several diseases together would be cost-effective in the Australian public health care system, compared with the status quo of targeted clinical criteria-based testing.
In Australia, the study found that offering population-level preventive testing to all 18- to 40-year-olds would be cost-effective compared with the present practice of limited genetic testing.
From the Monash University, School of Public Health and Preventive Medicine Co-first author Associate Professor Paul Lacaze said, this modeling forms a critic al pillar of evidence to support the development of a new DNA-based population screening program in Australia for heart disease and cancer risk.
Now with confidence we can say that, based on our rigorous modeling analysis, that offering population-wide preventive DNA screening to young individuals in Australia would save lives and also be cost-effective.
By offering this type of DNA screening would finally maximize the preventive potential of genomics, and deliver various public health benefits to the Australian people.
Senior author Professor Zanfina Ademi, who leads Monash University’s Health Economics and Policy Evaluation Research Group in the Faculty of Pharmacy and Pharmaceutical Sciences, said that combined population genomic screening for high-risk conditions in the young individuals population may be cost-effective from the public health care perspective, compared to the current status-quo.This was based on the willingness-to-pay threshold of AU$50,000—the amount the health care system is willing to spend per quality-adjusted life year gained.
If you look at it from a societal perspective, with potential health care costs and costs of lost work productivity considered, combined genomic screening would save lives and money compared to the status quo. This societal perspective is mostly considered in cost-effectiveness calculations which is conducted overseas.
This further highlights the importance of allocating scarce resources to preventive health so that society gains overall in the long term from combined genomic screening, other than testing or screening for single conditions individually, which is current practice.
Associate Professor Lacaze, who is a chief investigator of the DNA Screen pilot study said that, Australia has a proven ability to deliver population-based screening programs through our national public health care system and these successful programs are guided by our established National Population-Based Screening Framework.
Under these situations, the prospect of implementing a national DNA-based population screening program is achievable and exciting in Australia. Other matters, including psychosocial impacts, ethical and societal problems and implementation challenges, also need to be considered.
We highlight the need for more public education and awareness of genomics; a suitable informed-consent framework for population genomic screening to discuss potential benefits and harms, and the protection of high-risk people against genetic discrimination through new legislation in Australia.
