We started whole genome screening nearly five years ago, the ultimate comprehensive screen which has produced startlingly impressive results for our patients. However, there are some people, whom we deeply respect, who are not taking up asymptomatic genetic testing, consequently missing out on this vital health development. We have considered this carefully and have decided to offer a tailored selection of smaller limited panels, calling it the Win-Win approach. We think this new approach, where the tested area is focused and easier to comprehend, should help more people to feel comfortable to take up asymptomatic genetic screening.  Genetics truly is on a par, for its capacity to improve health, with the other seismic medical developments such as immunisation, antibiotics, and medical imaging.

Why should everyone be doing asymptomatic genetic testing?

Cancer mortality can be reduced by probably a fifth, and at worst a seventh, for those who do gene screening and then follow it through.  It can produce very significant saving of lives across the cardiovascular field and so many other health areas.   Combining polygenic risk scores and single risk genes are the two equally important techniques for discovering our health vulnerabilities enabling us to take effective life-saving measures. 

Other areas include finding the 6% of people who are ignorant of the fact that they have genetic changes putting them at risk of fatal pulmonary emboli and clots. If identified, we have life-saving protocols of taking, for instance, an anticoagulant tablet at times when they are at higher risk i.e. a flight of 6 hours of more.   

Iron overload gene changes are common, and the subsequent development of haemochromatosis with its progression to cirrhosis, which can then lead to hepatocellular carcinoma, can all be stopped if you know you are at risk.   I have recently had several patients with haemochromatosis with associated cirrhosis and liver cancers.   If diagnosed earlier, with simple venesection, they might not have needed to suffer this. 

So how do we win over the trust of those

who are currently missing out?

We are going to offer a more simple and limited choice of gene panels.  While we accept that we will miss saving some lives by the smaller number of genes that are included, the greatest certainty of losing unnecessary lives is if people do not trust or understand genetics, and therefore do not test at all.

Polygenic risk scores (PRS) – Cancers included are colon, prostate, breast and ovarian and also melanoma and kidney cancer, while the effect of a PRS in the latter two cancers is milder.  With prostate, having a PRS on the 99th centile gives a massive eleven-fold increased risk of prostate cancer.   So, it is best to know so you can do something about it, rather than the first sign of it being diffuse metastatic bony disseminated prostate cancer, as you did not do your screening in the right way. Last week I re-met up with a patient who was found to be on the 98th centile for prostate cancer. He was then tested and found to have prostate cancer, and had his prostate removed, successfully. Reflecting on the genetic testing he just said simply “it saved my life”.  

Polygenic risk scores are not handed down to the next generation in the same way as the 50:50 chance of an autosomal dominant gene change, but are reshuffled, like a pack of cards. 

Our hope and expectation is that 90% of patients will be happy to do Win 1 level of genetic testing.  

Cost: £1,450.00 - includes pre-counselling appointment.

Breast cancer: Polygenic risk scores and single risk genes can really help to identify those at higher risk so that they can take appropriate screening action.

Ovarian cancers: One in three ovarian cancer cases are due to a gene change that could have been prevented had they tested for the ovarian cancer risk genes. Understanding your risk enables you, once you have completed your family, to opt for a 98% risk reduction through the removal of the ovaries and fallopian tubes in a day case operation (the risk of surgical complications for the procedure is close to zero).  

Colon cancer: By 2030 this will be the most common cancer death in people aged 20-49 years.   By combining single risk genes, polygenic risk scores and family history, we can identify which of us is at higher risk for bowel cancer. Then we can offer earlier initiation and more frequent colonoscopy screening to prevent colon cancer from ever happening.  

Prostate cancer: For men, the polygenic risk scores are really impressive for finding those at higher risk of developing the most aggressive cancers.  

Cost: £1,650.00 - includes pre-counselling appointment.

We have included just those cardiac genes that Dr Tessa Homfray - our world expert in cardiac genetics - has advised will make the greatest difference. This is a limited number of cardiac genes, including some cardiomyopathies - heart muscle disorder - genes. Also, some heart rhythm genes - long QT - where knowledge is of prime importance, with hugely positive interventions available. It does not include all the cardiac gene changes that are in the preventive panel as described later.  

Cost: £1,685.00 - includes pre-counselling appointment.

Cost: £1,750.00 - includes pre-counselling appointment.

For people planning to have a baby, they should strongly consider double checking that both partners do not have a “carrier match” for a recessive carrier disorder. For example, if both of a couple carry a recessive gene for cystic fibrosis, the statistical risk is that one in four of their children will have the disorder. When a couple is found to have a carrier match and the disorder is serious, then they can opt to have IVF and have an embryo of theirs chosen, which does not have the disorder. This is called preimplantation genetic diagnosis - PGD.  

Cost: Under Review

Whole Genome Screening the widest screen for the largest number of genes is done together with a medical, ECG, echocardiogram and ultrasound.

Cost: £4995.00 - includes all investigations and medical as above.  Also, post-result Consultant Geneticist appointment.

Pharmacogenes on their own.  Excitingly, this has now been expanded to cover a wider area, including long-awaited additions such as the HLA genes.

Cost: Under review.

Polygenic risk score on its own

Cost: Under review.

Please note: all prices for Genetic Testing currently under review and may be varied depending on associated costs.

Genetic testing should ideally be taken up

by all adults above 25-27 years of age   

The time has come for you to be pro-active and take the best care of your own health.  You need to do asymptomatic gene testing, as much for yourself as for your children and grandchildren.  You will be able to warn them about what they need to look out for over the rest of their lives. To prevent your as yet unborn grandchildren ever suffering these disorders, stopping the passing down of faulty genes to the next generation by utilising the benefits of IVF and PGD.  

Colonoscopy screening is now broadly accepted within our culture. We celebrate the difference this can make.  Genetic asymptomatic testing can save so many more lives.  We really need the same positive cultural shift for genetic testing.  

The Association of British Insurers does not ask for any genetic results, only for those of you who have already had a cancer and are testing for its associated genes. We do not test for Huntingdon’s chorea, for which the insurers can ask for the result. 

Anonymity: We offer all patients undergoing genetic testing to choose pseudonyms and we change their birthdate to ensure anonymity. 

Please do make an appointment with our genetics team - Genetic Counsellor Lexi Noden, Genetic Associate Sophie Hicks, or myself.  You do not need to pay anything if, after your counselling appointment you decide not to do the genetic testing.   

Start helping friends and family to reduce cancer and cardiac mortality and so many other deaths too. The gains in time will become abundantly clear to everyone. So many lives can be saved if we take up the approach sooner rather than later. 

Dr Michael Sandberg