Study prompts call for ‘30th birthday’ screening tests
Routine screening at 30 for three genetic conditions that predispose to cancer and cardiovascular disease could save health services money, according to a recently published study.
The paper in the journal Annals of Internal Medicine – which focuses on the US market – recommends genomic screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer or HNPCC), as well as BRCA1/2 mutations that can lead to breast and ovarian cancer and familial hypercholesterolaemia (FH) that raises the risk of heart attacks and strokes.
Around 1.5% of people in the US population carry these genes, which cause conditions that can all be treatable if caught early.
The Vanderbilt University researchers behind the idea used a cost-effectiveness model to gauge the impact of testing at three ages – 30, 40, and 50 – and concluded that, while the upfront costs would be high, long-term savings would accrue for the US health system for the 30-year-olds.
They gave a hypothetical three-in-one test a nominal price of $250, saying that was in line with other similar tests in the US market.
The greatest savings came with 30-year-old testing, where screening 100,000 people would result in 101 fewer cases of cancer, 15 fewer cardiovascular events, and an increase in 495 quality-adjusted life-years (QALY).
Testing 30-year-olds would cost $33.9 million per 100,000 population, equivalent to a QALY cost of $68,000, lower than the $100,000 threshold often used to denote cost-effectiveness in health technology assessment (HTA) studies.
At older ages, the benefits of testing were less pronounced. The price of the test could be as high as $413 to make it cost-effective for those aged 30, but for 40- and 50-year-olds the models only came below the cost-effectiveness threshold if the price of the test was reduced to $290 and $166, respectively.
“Our analysis shows the high up-front investment in genetic testing is gradually recouped with improved outcomes among people with genetic risks over their lifetimes,” said lead author Josh Peterson, professor of biomedical informatics and medicine at Vanderbilt University Medical Centre.
If that was applied to the UK, there would be similar benefits, according to Dr Avinash Hari Narayanan, clinical lead at pathology testing company London Medical Laboratory, who said that it would be a “game-changer for the next generation".
While the NHS will have to foot the bill for the vast majority of treatments for the conditions, the benefit of universal testing versus the cost of more extensive treatment later likely means it will gain more than it spends, he predicted.
