The UK must start universal screening for three common genetic conditions at age 30, says expert

PUTNEY, U.K. - June 23, 2023 - PRLog -- A new study published in the US medical journal 'The Annals of Internal Medicine' makes a very strong case for universal genetic testing at the age of 30. This would detect and, if necessary, start treatments for three important hereditary conditions.

While not all inherited diseases are curable, the research examined the benefits of testing for three relatively common treatable genetic conditions:

• Lynch syndrome  – linked to colorectal cancers
• BRCA 1/2 – hereditary breast and ovarian cancer – also linked, to a lesser extent, to prostate and other cancers
• Familial hypercholesterolemia – linked to the increased risk of heart attacks and strokes

The groundbreaking research demonstrates that a genetic test for these conditions at around a person's 30^th birthday is statistically significant and cost-effective. A similar approach in the UK could become a game-changer for the next generation. London Medical Laboratory supports this effort and is calling for the UK-wide introduction of the universal genetic testing of everyone around their 30th birthday.

Dr Avinash Hari Narayanan (MBChB), Clinical Lead at London Medical Laboratory, says: 'The modelling results in the paper found that screening 100,000 randomly selected 30-year-olds resulted in 101 fewer overall cancer cases, 15 fewer cardiovascular events and an increase of 495 quality-adjusted life-years.

'The paper concludes that the test would be 99% cost-effective for 30-year-olds, in terms of the expense of universal testing and treatments, compared to the current position of only testing people thought to be at high risk based on their family history. However, looking at the numbers for 40-year-olds, cost-effectiveness shrank to 88% and 50-year-olds 19%, due to the cost of potential tests and treatments versus likely outcome.

'However, the three conditions tested for in this paper are all very treatable if detected early. The "US Center for Disease Control and Prevention" (CDC) classifies these three as "Tier 1 conditions": genetic syndromes with a significant impact on life expectancy that also have definitive, effective therapies.

'Around 1.5% of the population is likely to inherit one of these conditions – around 1,500 of the 100,000 screened in this modelling. By no means all these people would be aware of any family history and, indeed, some cases can occur because of new gene faults.

'The first fruits of DNA-based investigations are already here. London Medical Laboratory's new DNA Genotype Profile Test is a simple, at-home, saliva test kit (https://www.londonmedicallaboratory.com/product/dna-genot...). This once-in-a lifetime test gives over 300 reports, providing insights into nutrition, traits, fitness and health from our genetic blueprint.