This blog is written by our clinicians and aims to keep patients informed with up to date information on medical conditions.
By Dr Nicola Harrison
Why test your genome?
Genome is a current buzz word and means a human’s complete set of DNA, including all 22,000 genes. Although most DNA is identical between people, there are small differences or variants that make us all unique. Certain variants can be linked to certain health conditions and so by sequencing the whole genome should enable us, as your physicians, to truly personalise your care through predicting illness; modifying any risk factors in your lifestyle; and setting up the required health screening.
How is your genome tested?
This is through a simple saliva test, so not invasive at all. The DNA is extracted from cells from the mouth lining as well as white cells within the saliva. In order to get the highest yield of DNA from the sample, contaminants should be minimised, therefore you must not drink / smoke / eat or chew gum for an hour before the test is taken.
Although blood collection was considered the gold standard for DNA testing, saliva samples are able to produce DNA results of the highest integrity and perform equivalently to blood even for the most thorough DNA tests including whole genome sequencing.
Why did ROC choose to partner with N.A.G.?
New Amsterdam Genomics (N.A.G.) in Massachusetts, analyzes all 22,000 genes of the body using a technique called whole exome sequencing. By contrast, other well-known direct-to-consumer DNA sequencing companies use genotyping (which looks at your DNA in just a few discrete places) or gene panels (which look at just a few of your genes).
By scanning all 22,000 genes, N.A.G. can find rare mutations that could have a much more dramatic impact on your health.
The largest expense in genomics is analyzing the data. Other companies have Geneticists meeting up and voting on the important mutations and then provide a hand written explanation. N.A.G. takes a totally different approach where 99% of the analysis is done by computer AI, the only work done by a human is a Doctor verifying the results at the end. This enables N.A.G. to intelligently evaluate far more of the genome than other providers.
N.A.G.’s biggest US competitors are major academic centers such as Harvard and Baylor universities, which charge USD 5000-10000 for whole genome analysis. Due to N.A.G.’s computer analysis using AI technology, they can charge a third of their competitors’ costs whilst providing much more clinically useful information.
N.A.G. is also the only provider we have found in our extensive research with an interactive web portal that allows you to explore your own genome and see for yourself what each mutation means and why it may have been flagged. Each patient has access to their genetic data/results (to share with any specialists in the future) via the N.A.G. portal for the rest of their life, and as N.A.G.’s computer algorithms re-analyse your DNA every 2 weeks against every new genetic paper that is published online and if your results are altered due to a breakthrough – you will be notified, and your Doctor can advise you how, if any, changes are needed to your future health screening/lifestyle.
What type of person gets their whole genome sequenced?
At ROC, we want genome sequencing to become part of everyday healthcare, not to be viewed as something that finds disease, but a health tool that anyone can benefit from and even have fun with! We feel it is the future of personalised, preventative medicine.
If someone is worried about their inherited cancer risk; standard cancer gene panels look at just 30-70 cancer genes, whereas 1000 genes are known to be related to cancer, and N.A.G. examines all of these. We are then able to reassure them about their risk or refer early to a Specialist in order to discuss preventative measures such as mastectomy if the breast cancer gene has been inherited.
Some patients I would term ‘health optimisers’ who already lead extremely healthy lives but want to ensure they are not missing anything that could bring them up to peak performance.
Some patients have mysterious symptoms, which Western Medicine can not easily explain, and N.A.G. is able to respond to customed requests from doctors (and patients) to explore relevant areas of their genome to try and get to the bottom of the mystery.
It can also come in handy when a couple are thinking about starting a family – to ensure genetic compatibility by confirming that each partner’s genetic mutations are different.
Some patients are forward thinking and want to plan their retirement fund accordingly or wish to know if they are going to develop an untreatable disease.
What type of results does it show?
Risk of diseases which are multifactorial, such as heart disease, cancer, diabetes, stroke, hypertension, asthma, arthritis, anaemia, Alzheimer’s, etc.
There are diet / exercise and lifestyle recommendations which advise lifestyle actions you can take to potentially reduce your risk of disease, thereby optimising your health based on your unique attributes.
Optimal medication selection and dosing, based on your metabolism seen by your DNA, also known as ‘pharmacogenomics’.
Carrier status for those genetic traits that you carry in your DNA – usually recessive so you do not show/express this disease, but they may show in your children.
More importantly given the pandemic – N.A.G. has been able to respond by introducing a section on susceptibility to Coronavirus and predicted severity of infection if you do catch it, based on certain genetic factors such as your blood type and several gene mutations.
And finally there is the fun bit about ancestry – comparing your DNA to 52 different populations worldwide to find the closest match.
What about data storage and my genetic privacy?
This seems to be the biggest concern for my patients considering genome testing.
US healthcare companies have to conform to HIPAA (Health Insurance Portability and Accountability Act of 1996) that has many privacy/security requirements, similar to our Data Protection Act 2018.
Some of the ways N.A.G. ensures data safety:
- Double encryption of their data
- Their servers are totally closed off from hacking hotspots such as China, Russia & North Korea.
- Use a fine-grained login protection mechanism which allows each patient to set up the countries they wish their account to be accessible from. Each patient chooses if they want their anonymised data to be used for research purposes on an opt-in basis, and they can change their choice at any time.
But what if you don’t want to know your risk of developing terminal diseases?
N.A.G. predicts powerful things from your genome and although most patients are empowered by this knowledge, some can react negatively. Therefore, it is only natural that N.A.G. would offer a choice of three levels of genetic information, to further individualise care.
- The largest level shows you everything.
- The middle level (the commonest option) hides findings related to incurable diseases, such as Parkinson’s, Motor Neurone Disease, Alzheimer’s and ALS etc,
- The smallest level is also known as “Comfortable and Fun,” excludes the same incurable diseases from the middle level but also hides cancers with low survival rates (e.g. pancreatic, liver, and lung), thereby giving you all the actionable diseases that you can prevent.
Your Doctor will help you decide on the right tier of information for you. Plus, as N.A.G. have already done the analysis of your whole genome, if you were to change your mind during your lifetime and prefer to see everything, you can request complete access at any point in the future.
How do I arrange DNA testing?
Please get in touch with our Doctors in London and Aberdeen if you have any questions about Whole Genome Testing.
Please fill in the form, email us, or call 01224 515254