A new study published in the US medical journal makes a strong case for universal genetic testing at 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 (often called hereditary nonpolyposis colorectal cancer HNPCC) – is linked to colorectal cancers
• BRCA 1/2 (breast cancer gene one and two) hereditary breast and ovarian cancer – also linked, to a lesser extent, to prostate and other cancers
• Familial hypercholesterolemia – is linked to an increased risk of heart attacks and strokes

The groundbreaking research demonstrates that a genetic test for these conditions at around a person’s 30th 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 calls for the UK-wide introduction of 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 to 19% due to the cost of potential tests and treatments versus likely outcomes.

“Certainly, wider genetic testing is controversial, as it may discover untreatable conditions. Sadly, there are genetic diseases without a cure and limited therapies, such as Huntington’s disease, an inherited movement disorder that is fatal.  

“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-one conditions: Genetic syndromes significantly impacting life expectancy also have definitive, effective therapies.

“Around 1.5% of the population will likely 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; indeed, some cases can occur because of new gene faults.

“The paper concludes that population genomic screening for genes associated with these three tiers one condition is likely to be cost-effective in US adults younger than 40 years old if the testing cost is relatively low and patients have access to preventive interventions.

“Of course, the cost-effectiveness of such treatments may differ between the US and the UK. Given the relative cost of medical treatment in the US, fewer Americans may be able to access necessary treatment compared to the UK. Here, the NHS will have to foot the bill for most treatments.

“However, the benefit of universal testing versus the cost of more extensive treatment later likely means the NHS will gain more than it spends by introducing a universal test for 30-year-olds.

“But will Brits want to take the test? There’s strong evidence that they probably will in the case of these three syndromes. A paper from 2021 found that 73% of people asked wanted to be enrolled in a genomic test. The reasons they gave were to help themselves (87.1%), help their family (75.7%), help with family planning (40.0%) and feel ownership over results (34.3%). Reasons for not receiving results included discrimination concerns (54.3%), anxiety (45.7%), privacy concerns (28.6%) and the inability to make health changes (21.4%).

“It’s worth noting that, here in the UK, the Association of British Insurers (ABI) Code on Genetic Testing and Insurance states that if you are applying for life insurance over £500,000 and you have had a predictive genetic test for Huntington’s disease, you must tell your insurance company the result of this test.

“However, if they ask, this is the only predictive test you must tell your insurance company the result. Insurers are not allowed to ask you to have a predictive or diagnostic genetic test under any circumstances or to ask for, or take into account, the result of a predictive genetic test if you are applying for insurance. However, whether this would remain in the wake of population-level testing is uncertain.

“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. This once-in-a-lifetime test gives over 300 reports, providing insights into nutrition, traits, fitness and health from our genetic blueprint.

“A single saliva sample allows us to know more about ourselves and facilitates the creation of personalised wellness products and plans. It can be taken at home through the post or at one of the many drop-in clinics that offer these tests across London and nationwide in over 95 selected pharmacies and health stores.”