Win Win Panels
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.
Thrombophilia Genes
- Deep Vein Thrombosis
- Pulmonary embolism
Haemochromatosis Familial Hypercholesterolemia
SERPINA1-related disorders
- Emphysema and Cirrhosis
Porphyria, lactose & fructose intolerance
Pharmacogenes (how you specifically metabolise drugs)
Polygenic Risk Scores (13 conditions) (optional)
Cost: £1,450.00 – includes pre-counselling appointment.
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.
ALL WIN ONE GENES
POLYGENIC RISK SCORES
PHARMACOGENES
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ALL WIN ONE & TWO GENES
POLYGENIC RISK SCORES
PHARMACOGENES
Cardiomyopathies
Long QT syndrome
Polygenic Risk Scores (13 conditions)
Pharmacogenes (optional)
Cost: £1,750.00 – includes pre-counselling appointment.
Preventive Panel
84 cancer genes
81 cardiac genes (including hypercholesterolemia genes)
4 extra genes
- Iron overload for haemochromatosis
- Factor V Leiden and
- F2 Prothrombin for clot risk
- Alpha 1 antitrypsin for emphysema and cirrhosis
Polygenic Risk Scores (13 conditions)
Cost: £1500.00 – includes pre-counselling appointment.
Add Pharmacogenes (optional)
Cost: £1,750.00 – includes pre-counselling appointment.
Recessive Gene Panel
700 autosomal recessive and X-linked disorders
1:300-350 people at birth are affected by a recessively inherited disease – autosomal or X-linked
Many of these diseases are life threatening and/or severe
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: £770.00 (partnered), £595.00 (single)
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.
