Published on
Updated
Reading 3 mins.
in collaboration with
Ivan Pourmir (medical oncologist)
Medical validation:
May 09, 2023
According to an American study, genetic screening for three specific diseases would be cost-effective if carried out on all people under 40 years of age. Update on this discovery with Dr Ivan Pourmir, medical oncologist at the George-Pompidou European Hospital in Paris.
The cost-benefit ratio of genetic screening extended to the general population has been the subject of evaluation for many years. According to a new analysis published in the journal Annals of Internal Medicine, a new type of systematic screening would show promise in people under 40 years of age. Point.
Outstanding cost-effectiveness for up to 40 years
In this work, the scientists estimated the cost-effectiveness “d‘one-stop, all-in-one screening’ of 3 hereditary syndromes (hereditary breast and ovarian cancer syndrome; Lynch syndrome and familial hypercholesterolemia) taking into account their impact on the health of American adults aged 20 to 60 years.
Based on the costs of similar tests currently on the market, the authors estimated the cost of $250 for a hypothetical all-in-one test limited to genes strongly correlated to the risk of these three genetic susceptibilities. Results :
- The researchers found that, compared to usual care, screening 100,000 people aged 30 would result in 101 fewer cases of cancer and 15 fewer cardiovascular events over their lifetime.
- With a test costing $250 — and, if positive, a confirmatory test for the same price — one-time screening of 30- and 40-year-olds was cost-effective. In 30-year-olds, for example, at $33.9 million per 100,000 population, the additional cost posed by screening and subsequent preventive care was $68,600 per QALY gained. However, screening 50-year-olds with a $250 test was not cost-effective, due to missed opportunities to prevent disease in older populations.
- For people age 30, the study found that screening would still be cost-effective if the test cost $413 or less.
- For people age 40, the cost of a single test was expected to be $290 or less, and for people age 50, the cost was expected to be $166 or less.
According to these initial estimates, the authors believe that this genetic risk screening would therefore have a remarkable cost-effectiveness ratio and would constitute a “historic step towards precision medicine“with significant long-term benefits.
“Genetic panel sequencing costs for these conditions have fallen to around $250, and our analysis shows that the high initial investment in genetic testing is gradually recouped through better prognoses in people at genetic risk during their lifetime. life“, confides in this respect a person in charge of the study, Josh Peterson.
Any mass screening intervention will incur ‘additional costs’
Significantly interesting results, but which leave Dr. Ivan Pourmir skeptical. On the one hand, he doubts the real benefits for patients.
“First of all it is a simulation. It is therefore very likely that the results in real application diverge strongly. For example, even if Lynch syndrome, which increases the susceptibility to many cancers, is detected in a young person, this does not guarantee that these cancers will occur on an individual scale and that early detection via this test will make it possible to diagnose and treat them early enough to increase their life expectancy and quality of life,” notes the oncologist.
On the other hand, he points out that the cost of mass screening is not just the price of the tests.
“We must not forget that any mass screening intervention will entail human and material costs other than the test itself. Indeed, the people in whom this susceptibility would be diagnosed will then undergo regular examinations, or even interventions. and costly, with possible physical but also psychological side effects that can reduce life expectancy and quality of life“.
The doctor also believes that these results, obtained from data on the American population, may vary if they are applied to other populations. To apply them to others, “it is necessary in particular to take into account the prevalence of the syndromes sought in these last“, he believes.
Finally, he wishes to recall the economic stakes linked to the generalization of such tests.
“It should be kept in mind that the generalization of such tests represents an extremely lucrative market, it is important to control the conflicts of interest of the decision-makers in their implementation in public health. As with all systematic screening measures, it will be necessary to go beyond simulations and to rigorously evaluate their benefits and their deleterious effects in real clinical trials.“, concludes the expert.