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 (often called hereditary nonpolyposis colorectal cancer HNPCC) – linked to colorectal cancers
- BRCA 1/2 (BReast CAncer gene 1 and 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 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 is calling for the UK-wide introduction of the universal genetic testing of everyone around their 30th birthday.
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."
Dr Avinash Hari Narayanan (MBChB), Clinical Lead, London Medical Laboratory
‘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.
‘Of course, wider genetic testing is controversial, as it may discover conditions that are not treatable. Sadly, there are genetic diseases without a cure and only 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 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 paper concludes that population genomic screening for genes associated with these three Tier 1 conditions 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 of the vast majority of 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 really want to take the test? There’s strong evidence that, in the case of these three syndromes, they probably will. A paper from 2021, published in “Genome Medicine”, 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 to not receive 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, this is the only predictive test you must tell your insurance company the result of, if they ask. 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, it is uncertain whether this would remain in the wake of population level testing.
‘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 each of us to know more about ourselves and facilitates the creation of personalized 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.