Genomics Health Insights

What Health Insights tells you

Most heart attacks, strokes, cases of type 2 diabetes and common cancers are not caused by a single faulty gene. They are shaped by the combined effect of large numbers of common DNA variants, each nudging your risk up or down a little, together with your age, health and lifestyle. A polygenic risk score (PRS) adds those small genetic effects together into one measure.

Health Insights goes a step further than a genetic score on its own. Genomics combines your score with your age, sex at birth and ethnicity - and, for heart disease and diabetes, with the same risk calculators NHS clinicians use - to give a personal risk estimate for each condition.

Want the background first? Read our guide to how polygenic risk scores work.

The conditions covered

• Cardiovascular disease (heart attack and stroke) - your genetic score is combined with QRISK3, the calculator the NHS uses to estimate a person's 10-year risk of heart attack and stroke.
• Type 2 diabetes - combined with QDiabetes, which estimates 10-year risk of developing type 2 diabetes.
• Breast cancer (if you were assigned female at birth) or prostate cancer (if you were assigned male at birth) - your genetic score combined with your age and ethnicity.

You receive three results. A result is only given where it applies to you - for example, there is no heart result if you already have cardiovascular disease, and no diabetes result if you already have type 2 diabetes.

What's included for £399

• A pre-test consultation with a GP, to check the test is right for you and take your health details
• A blood test for HbA1c (your average blood sugar) and cholesterol, which feed the heart and diabetes calculators - arranged with you after your consultation
• A home saliva kit from Genomics - you collect the sample at home and post it to the laboratory
• Analysis by Genomics, using ISO 15189 certified partner laboratories
• A results consultation with a GP, going through your report and what to do next

Results usually take 4 to 6 weeks from when the laboratory receives your saliva sample. Genomics describes this as a test you only need to take once in your life: your genes don't change, although your risk does change with age and health.

Who it's for

Adults aged 40 to 69 who want to understand their risk of these common conditions, so they can act on it earlier. Each result has its own criteria:

• Heart result - not for people who already have cardiovascular disease, take a statin, or have a family history of high cholesterol
• Diabetes result - not for people already diagnosed with type 2 diabetes
• Breast cancer result - not after breast cancer, or with a known BRCA1/BRCA2 or other high-risk breast cancer gene variant
• Prostate cancer result - not after prostate cancer

It is not for anyone with symptoms of these conditions - if you have symptoms, please see your GP instead. It is also not suitable during pregnancy or while breastfeeding. Your GP confirms which results apply to you at your first consultation.

Two polygenic tests - which one?

We offer two polygenic risk tests, and they answer slightly different questions:

• Genomics Health Insights (this test) - three results, each combined with your age, ethnicity and, for heart disease and diabetes, your health check and the NHS's own calculators. GP consultations and a blood test are included.
• Polygenic Risk Score Test (Allelica) - ancestry-specific genetic scores across more than 20 conditions, from a home saliva kit with a genetic-counselling consultation included, and no blood test.

Not sure which suits you? Our team can talk it through with you.

The science behind it

Genomics was founded in 2014 by four statistical and human geneticists at the University of Oxford: Professors Peter Donnelly and Gil McVean, and Drs Gerton Lunter and Chris Spencer. Its scores are built from very large genetic datasets, including UK Biobank - for which Genomics produced the polygenic risk scores released to researchers.

Published research on Genomics' polygenic scores, and on an earlier version of its heart tool, includes:

• Heart disease, UK Biobank. In 186,451 people, adding Genomics' genetic score to a standard clinical risk calculator (the US pooled cohort equations) improved the prediction of coronary artery disease, with the largest gain in men aged 40 to 54. The genetic score was almost unrelated to QRISK3, so it adds information the standard calculator does not capture.
• Heart disease, NHS Health Checks. In a Leicester study of NHS Health Check attendees, QRISK2 alone had flagged 61.5% of the people who later had a major cardiovascular event as high risk. With Genomics' integrated tool added, that rose to 68.7% - and from 26.0% to 38.4% in people aged 40 to 54.
• Heart disease, NHS primary care. The HEART study offered an earlier version of the heart tool - built on QRISK2 and using blood samples - to 832 NHS Health Check participants across 12 GP practices. Healthcare professionals agreed it could be used in routine primary care for 90.7% of reports.
• Type 2 diabetes. Independent Oxford researchers found that people in the top fifth of Genomics' type 2 diabetes score had about twice the risk of those in the middle fifth - and that a healthy-weight person in the top fifth had a similar risk to an overweight person in the middle.
• Breast cancer. Independent researchers found that adding Genomics' breast cancer score to established risk models (Tyrer-Cuzick and Gail) improved their ability to predict who went on to develop breast cancer.

To be clear about the limits: much of this research was carried out or funded by Genomics, and most of it is in people of White European ancestry. The heart studies used earlier, QRISK2-based versions of the tool, and the diabetes and breast cancer studies tested the genetic score on its own - there is no published study yet of the combined breast cancer, prostate cancer or type 2 diabetes results exactly as Health Insights reports them, and no study has yet shown that using the test reduces heart attacks, strokes, diabetes or cancers.

What it can - and can't - tell you

Health Insights can show whether your risk for each condition, combining your genetics with your health, is higher or lower than average - which can help you and your GP decide on prevention and screening earlier.

It cannot:

• Diagnose any condition, or tell you for certain whether you will or won't develop one. A higher result is not a diagnosis, and a lower result does not mean no risk.
• Replace tests for single-gene conditions. It does not test for BRCA1, BRCA2, Lynch syndrome or other rare, high-impact variants. If cancer runs strongly in your family, ask us about hereditary cancer screening.
• Work equally well for everyone. Genetic scores are generally less accurate for people of non-European ancestry: in Genomics' own research, their predictive strength was on average about 9% lower for South Asian, 14% lower for East Asian and 28% lower for African ancestry.
• Replace NHS screening. Keep attending NHS screening and NHS Health Checks when invited.

If your result is higher than average

Your GP results consultation covers what your result means for you and the options. As a guide to how UK care works today:

• Heart and circulation - NICE guidance uses a 10-year cardiovascular risk of 10% or more as the point at which a statin is discussed, alongside changes to diet, activity and smoking.
• Type 2 diabetes - lifestyle changes, and keeping an eye on your blood sugar. The NHS Diabetes Prevention Programme is for people whose blood test shows raised blood sugar, or who have had gestational diabetes - a genetic score alone does not qualify.
• Breast cancer - NHS breast screening invites women every 3 years, from between their 50th and 53rd birthdays up to 71. Earlier or extra screening on the NHS needs assessment by a specialist, which your GP can discuss with you.
• Prostate cancer - there is no routine PSA screening on the NHS, but you can talk to your GP about a PSA test and its pros and cons.

An NHS GP may not act on a private test result on its own, and NHS programmes keep their own entry criteria - which is why your results consultation focuses on practical next steps.

Regulation, laboratories and your data

• Genomics states that Health Insights is UKCA marked and registered with the MHRA as a medical device.
• Samples are processed in ISO 15189 certified laboratories, and Genomics states that it is certified to ISO 13485 (medical device quality) and ISO/IEC 27001 (information security).
• Genomics states that it never sells personal information or genetic data, that you can ask it to stop using your data at any time, and that its processes are designed to meet UK GDPR.