Personal Genetic Testing – How Much Do You Want To Know?

Personal Genetic Testing – How Much Do You Want To Know?

It’s the recent media story that carries some major health implications for us all and carries a lot of ‘punch’ in terms of the headlines. “DNA-screening test 23andMe launches in UK after US ban: The Google-backed genotyping service can screen for common genetic diseases such as cystic fibrosis or sickle cell anaemia.” ran the Guardian. Whilst the Independent led with “£125 genetic test kit backed by Google arrives in Britain – with a health warning: A Google-backed company that offers a personal genetic screening to test for risk factors associated with diseases such as cancer and Parkinson’s will be available in the UK from today despite deep public health concerns in the US.” 23andMe is named after the 23 pairs of chromosomes in a human cell.

Personal Genetic TestingAll the ingredients are in this story to excite the media. A USA company backed by Google, set up by the wife of a Google founder (now separated), offering ‘personal genetic testing’, its main product recently banned in the States by the FDA (the US Food and Drug Administration) and now available in the UK.

Is Technology Taking Over?

And what about the potential implications for every one of us in the UK? Well firstly, there already are companies based here offering this type of genetic testing ‘product’, it’s just that this high profile company has brought the whole industry and implications to the fore. And secondly, if you opt for this personal genetic test what will you do with the results if they flag something unexpected and worrying, or indeed you are unsure how to fully interpret the results?

Finally, this type of personal genetic testing is surely here to stay. It’s a question of how such technology advances over time plus possible reductions in the cost. As the Independent newspaper quoted Mark Thomas, professor of evolutionary genetics at University College London:

“You could argue with ethicists till the cows come home about whether people should be able to have their genomes sequenced. The bottom line is, technology is taking over. It is here, they are doing it, and it’s not going away. The question is: are these companies responsible? Is the information they are giving you scientifically sound and is it handled in a responsible way.

Genetics is messy and complicated. If people are expecting their test to say, ‘you’ve got this variant, therefore you’re going to get this disease’, they need to know that this is rarely the way it is.”

So what will you get for £125 from 23andMe? Their website highlights: “After we process your saliva sample, you will receive specific information about your DNA in your reports. Find out about your health risks, inherited traits and even your ancestral origins. View reports on over 100 health conditions and traits; Find out about your inherited risk factors and how you might respond to certain medications; Discover your lineage and find DNA relatives.”

It has been a busy few months for news on genetics in the UK as, separately, Prime Minister David Cameron has raised the public awareness of the ‘100,000 Genomes Project’ with his comments that “It will see the UK lead the world in genetic research within years.” The Guardian reported: “Tens of thousands of NHS patients are to be invited to donate their DNA for research as part of a project that aims to make the use of genetic data routine in the health service. Beyond cancer, the 100,000 Genomes Project hopes to improve diagnoses of rare diseases caused by genetic mutations. Though rare individually, they take a huge collective toll on public health. More than 5,000 rare diseases, which affect more than 3 million people in the UK, have been identified.”

Reasons for Personal Genetic Testing?

Genetic Testing ProfileThe arrival of 23andMe in the UK and subsequent media coverage raises so many important questions when it comes to our personal health, genetic testing and the field of science termed ‘Nutrigenomics’.

For example, for what reasons might an individual pay for a genetic test? It might be that there is a family history of a hereditary disease and you want to establish your risk, or you may hope to assess whether you have an elevated risk of certain diseases (Alzheimer’s is oft cited as an example here). Alternatively, many people may opt for the test for preconception testing reasons, or perhaps as part of a personal medical diagnostic process. Some may undertake the test as a form of ‘health check’, or it might be that the genetic test is primarily taken as part of a programme to help optimise ‘good health’.

Whatever the reason, many questions or dilemmas may remain once the tests results are revealed. It may be that a medical health issue is revealed by the test that is wholly unexpected by the individual. How will they emotionally deal with this news and what is their next step? It may be that they interpret the test results overly negatively, causing unnecessary worry. Or if they consider the results ambiguous or confusing, how will they resolve this and at what cost?

And what are the implications for health professionals and the health services if personal genetic testing dramatically increases? Many people may take their results to a doctor, yet what are the medical issues for the doctors and NHS budgets here? And perhaps the genetic test has been commissioned with a qualified health practitioner such as a nutritionist who has to deliver some unexpectedly worrying news. One assumes the practitioner needs to be prepared and trained for such an eventuality.

If you are provided genetic testing on the NHS (such tests are currently only offered in very specific circumstances) then ‘genetic counsellors’ are made available and the patient is encouraged to use them (link to the relevant NHS web page further below).

At Cytoplan our recent focus on the growth in genetic testing has been primarily for ‘nutritional genomic’ (nutrigenomic) reasons. We have previously written a number of articles on the topics of nutrigenomics and epigenetics. In particular we have focussed on the critical role that nutrition plays in relation to our genes and our health – and this nutritional relevance starts at a preconception stage. (We provide links to these previous articles further below).

Undertaking a genetic test primarily for nutrigenomic reasons may be considered part of an individual’s route toward ‘optimising’ for future health, or seeking ‘optimal’ nutritional advice based on their individual genetic profile. The question raised by the entry into the UK market of 23andMe is how their test can further this objective, specifically in limitations for the individual in acting on their results and the limits of such results.

In this article we review the exploding science of nutrigenomics and find out what the UK media had to say about the arrival of 23andMe. We also look at a range of issues in relation to personal genetic testing for both the individual and health professionals such as doctors and health practitioners. And we look at the current activities of the NHS in respect of personal genetic testing.

Nutrigenomics and Epigenetics

Why is nutrigenomics such an exciting and emerging health topic? Because we all have slightly different genetic variations – and these can change the extent to which different foods or nutrients can be helpful or harmful to us as individuals. These gene variations change our susceptibility to different diseases and can make certain dietary changes dramatically more important for one person than another.

We are born with the DNA, the genes, that we ‘inherit’ from our parents. The most recent research now demonstrates that the diet of the mother at a preconception stage and onward can significantly influence the expression of genes we are born with. During pregnancy and breastfeeding the diet of the mother is critical for the baby’s health, as are the choices our parents make in what they feed us from infancy through to teenage years.

In adulthood the factors that can impact on our health, specifically in relation to the field of nutrigenomics, comprise our diet, fitness, the stresses of our life and how we handle them, ‘abuse’ factors such as alcohol, drugs and tobacco, and ‘environmental’ issues such as pollution.

The fields of epigenetics and nutrigenomics look at aspects of our genetic profile to establish what ought to nutritionally work best for us in terms of diet and maintaining good health; you might say this is ‘optimal’ nutritional advice for individuals.

For those with existing chronic illnesses or ongoing medical conditions, this approach seeks to establish whether aspects of the individuals genetic profile are playing a significant role in the illness in terms of nutrition. Typically this means that a lack of a certain nutrient (or nutrients), or a failure in their assimilation due to the individuals genetics, is a major factor in attempting to resolve or mitigate the illness.

Even for those in apparent ‘excellent health’ a genetic profile can indicate ‘susceptibilities’ toward certain health conditions, particularly in later life. So, if for instance, a profile shows errors of methylation that could predispose an individual to Alzheimer’s then it may be advisable for that person to take higher and ongoing levels of methyl donor nutrients (for example), than someone without that susceptibility.

23andMe and the UK Media

The arrival of 23andMe in the UK received extensive coverage in the mainstream media. We provide excerpts of reporting from the Independent and Guardian below, with links to their full respective online stories at the end.

The Independent: “£125 genetic test kit backed by Google arrives in Britain – with a health warning – A Google-backed company that offers a personal genetic screening to test for risk factors associated with diseases such as cancer and Parkinson’s will be available in the UK from today despite deep public health concerns in the US.
The Department of Health is warning people that they should “think carefully” before using the £125 genomic assessment as “no test is 100 per cent reliable”.

America’s public health authority, the Food and Drug Administration, banned the company, 23andMe, from predicting people’s future health after failing to prove the tests were accurate.

Now, the California-based company, set up by Anne Wojcicki, the wife of Google’s co-founder Sergey Brin, is launching in the UK amid questions over whether the science is sound and could drive people to seek out unnecessary treatments.” And the report goes on to say: “The company says it had addressed the concerns raised by the FDA, and the UK test offers health reports on fewer conditions.

In the UK the service is not being marketed as diagnostic and therefore does not require approval from the Medical and Healthcare Products Regulatory Agency. The products used comply with European safety regulations.

23andMe is one of the biggest and best-known of a growing number of private genetic testing companies. It is part-funded by Google, which was an early investor when the company was founded in 2006. In a statement greeting the service’s arrival in the UK, Ms Wojcicki said that the company’s “mission” was “to ensure that individuals can personally access, understand and benefit from the human genome”.”

The article provided this explanation on how the testing is meant to work: “The tests work by extracting DNA from a saliva sample, submitted by customers to 23andMe’s lab. Data from the DNA is extracted and placed on a “genotyping chip” that can be analysed by a computer. The information is then uploaded to a secure online account that the customer can view.”

And finally, a comment from the NHS:

“A Department of Health spokesperson said: “This Government is developing the use of genomics for patient care within the NHS. We welcome initiatives that help to raise awareness of genomics and those which enable people to take more interest in their personal health but we urge people to think carefully before using private genomic services as no test is 100 per cent reliable.””

The Guardian also provided an excellent report on the 23andMe launch. Below are several pertinent snippets with the link to the full article at the end of this blog: “DNA-screening test 23andMe launches in UK after US ban – The Google-backed genotyping service can screen for common genetic diseases such as cystic fibrosis or sickle cell anaemia.”

“Genetic testing company 23andMe is launching its personal genome service in the UK after it was banned in the US. “We can take complicated genetic information and distill it in language that people can actually understand,” the 23andMe chief executive Anne Wojcicki said.”

“The spit kits cost £125 and are sent to the Netherlands before testing in the US. The results, which take approximately six to eight weeks, allow users to both browse the raw code of their genome and use tools to investigate their genetic makeup.
The data is used to generate reports explaining common genes and genetic differences, such as how people metabolise caffeine to why some respond better to exercise. It also produces ancestry reports and further information as new research is published but does not advise on health matters. People could take the data to a doctor, however.

The data is stored encrypted and separated from identifying details on 23andMe’s servers, accessible only to the subject. People can share their anonymised genetic data with researchers as part of a 600,000-strong genetic database, with their doctor or family, or remove it from the servers entirely.”

“The science is soundest behind 23andMe’s ancestry reports, which are good, but the majority of the rest of the reports are generally based on very small shifts of risk, which are better served by simply living healthier and getting more exercise,” said Dr Ewan Birney – associate director of the EMBL-European Bioinformatics Institute in Cambridge and unconnected with 23andMe, although he has used one of its kits.

“Despite 23andMe’s careful use of language and explanation, there is an understandable concern that this type of genetic testing could cause inappropriate harm simply through people worrying excessively or becoming neurotic over these small increases in risk.”

Genetic Test ResultsIn the UK, 23andMe is not the first to launch genetic testing. The NHS’s 100,000 genome project conducts full genome sequencing as opposed to genotyping, which compares common differences in known genes. The NHS’s project, which is set to complete its pilot stage by 2017 as part of analysing how best to use genomic data in health care, is “world leading”, said Birney.

“This government is developing the use of genomics for patient care within the NHS,” a Department of Health spokesperson said. “We welcome initiatives that help to raise awareness of genomics and those which enable people to take more interest in their personal health but we urge people to think carefully before using private genomic services as no test is 100% reliable.””

“We’ve learned a lot over the last eight years. We’ve been heavily involved with the UK Medicines and Healthcare Products Regulatory Agency (MHRA), obtained a CE mark and they have determined that we’re not a medical product, more an information product,” said Wojcicki.

Products used in personal genome services are regulated by MHRA to meet minimum standards. People who use these products should ensure that they are CE marked and remember that no test is 100% reliable so think carefully before using personal genome services,” an MHRA spokesperson said.”

Many Questions Remain

As a minimum we can thank the UK entry of 23andMe for significantly raising the awareness of genomics and genetic testing. Its timing with the promotion of the NHS 100,000 genomes project has surely helped the cause of educating the public.

Yes, it’s only the beginning of the technological advances in this arena of health care. However at this stage the media reporting also raises a whole series of pertinent questions that need addressing, and we would summarise some of these as follows.

‘Individual worry’ – however you describe it the possible shock and worry that may come with unexpected genetic testing results cannot be underestimated. This is a whole healthcare and philosophical debate in itself. Surely ‘forewarned is forearmed’ would be the argument of many. The issue is perhaps how much psychological distress a genetic test may cause? This presumably should be far outweighed by the likelihood of health benefits derived from a personal genetic test, certainly when coupled with nutritional genomic principals.

Health Professionals – One can’t imagine GPs’ surgeries being deluged by people wanting to discuss their privately commissioned genetic testing results with their doctor. However it is going to happen in some numbers on a regular basis. It would be interesting to know if the NHS is provisioning for some set form of guidance for doctors for when this happens. For starters the doctor may simply be unable to extrapolate much from the generic test result report.

For qualified health professionals in the fields such as nutrition practitioners etc. all of us have been following the developments in nutrigenomics and genetic testing closely for some time now. But practitioners wishing to become involved in this field will not only need to address the technical issues but the issue of test results occasionally exposing serious news for a patient – news that the practitioner has to impart.

The NHS – A number of pertinent NHS quotes in relation to the arrival of 23andMe in the UK can be seen in the media reporting we detailed earlier. In addition we provide links to the 100,000 genomes project further below. There is a video of interest on the Genomics England website. Naturally the use of genetic testing is going to form an increasingly important role in the NHS.

A concern in the USA was that increased use of personal genetic tests would mean a lot more people demanding increased testing. For example someone whose genetic test indicated an alleged increased risk for a certain cancer might demand increased screening. So this may happen here and again it’s a debate with merits on both sides of the argument. The issue for the NHS is of course a finite budget and resources to deal with.

Test result interpretations – £125 may sound to some like good value for a personal genetic test, but to what extent can an individual interpret the results from (in this example) 23andMe? Do they then need an extra level of consultation to get some meaning from the report? Secondly, how do they implement a personal action plan from the results to support and, hopefully, improve their long-term health?

We commented earlier that at Cytoplan our focus is very much on the nutritional genomic aspects of personal gene testing. So what is required here is an interpretation of an individual’s results that leads to recommendations on diet and nutrition. We are not aware that the standard 23andMe results will provide anything like this, so how does the individual go about finding the right advice should they want it?

A number of our staff undertook genetic tests via 23andMe in the USA earlier this year, prior to the company launch in the UK. We then needed o process the ‘raw’ data from each test results and this requires other software, for example nutrahacker.com. Even after this process you need a skilled health practitioner to extrapolate and advise on the right nutritional advice as part of a nutrigenomic framework.

Accuracy – The accuracy of the 23andMe genetic tests were called into question in the USA. No technology is foolproof 100% of the time, we suppose the question is how close to that 100% they consider their testing system. Whether it is this company or another, every individual will need to consider this issue, research it accordingly, and make a decision as to whether to proceed with a personal test.

Privacy and Cost – There will always be some of us who will not wish to have a private genetic test due to concerns about the privacy and security of personal data.

At £125 one could argue that 23andMe have introduced a very competitively priced genetic test to the publics’ attention. But there will be some that say all it does is create two ‘groups’, those that can afford the tests and perhaps some further paid consultation, and those who cannot afford it.

Nutrigenomics – In a previous article we commented that “The study and inclusion of Nutrigenomics is surely part of the future for pro-active, personalised, predictive and preventative healthcare.” More affordable personal genetic testing and the work of the NHS in this field are further steps toward nutritional genomics becoming an integral part of health care.

Summary

One can readily see that affordable and accurate personal genetic testing can offer the benefit of health information about our susceptibility to specific diseases. We can then act accordingly, for example to endeavour to minimise such risks. No doubt as time passes both the technology and costs will improve to make this a plausible reality for ‘mass’ use. We can also see that this topic raises many significant questions too, and will continue to do so, irrespective of technological advances.

We could not begin to cover all of these issues in this article today. And thus we will be writing future articles that are devoted to more specific aspects of personal genetic testing. For example our experiences (to date) of testing; the potential ‘pitfalls’ with the current types of information made available from a test; ethical issues surrounding genetic testing; options for interpreting the results from a test, and making nutritional recommendations as such; and issues for health professionals such as practitioners with managing genetic testing for their patients.

As part of this ongoing discussion and education on this matter we would love to hear from you too. Both from health professionals, and individuals who are interested in what genetic testing may offer. Please do provide your comments via this blog (below) or alternately email me ([email protected]) directly. We would like to hear about practical experiences of genetic testing, or suggestions for future blog topics to cover, or for health practitioners let me know please if you would like to contribute directly to our blog with your own text or article .

If you have any questions regarding this article, any of the health topics raised, or any other health matters, please do contact me (Amanda) by phone or email at any time.

Amanda Williams, Cytoplan Ltd
[email protected], 01684 310099

RELEVANT LINKS:

The Guardian: DNA-screening test 23andMe launches in UK after US ban
The Independent: £125 genetic test kit backed by Google arrives – with a health warning
The BBC: Controversial DNA test comes to UK
The BBC: NHS DNA scheme to fight cancer and genetic diseases
Genomics England: The 100,000 Genomes Project
The NHS: Genetic Testing and Counselling

Cytoplan Blog:
Nutrigenomics – Where nutrition meets genetics
We are what we eat? We are also what our mother ate at the time of conception
Our Genes throughout life – the importance of dietary components and Nutrition
Methylation: energy for life and living!


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2 thoughts on “Personal Genetic Testing – How Much Do You Want To Know?

  1. Fascinating article! Great to get an insight into the media exposure around this and the bigger questions up for discussion now!

  2. Interesting article, but an issue that worries me, particularly with the public NHS, is who keeps the data on the UK population, can it be sold to third parties for profit both by the NHS and the third party? Can it be used for things like health insurance, or other less desirable uses. Its not really private to the genetic owner, who owns the data ultimately?

    At least with a private company, technically it is your data, and potentially you could ask the company to destroy their records once you have yours. Unless a government body forces the company to hand over data.

    Unanswered questions! Never mind shocking the client to find out they have a genetic predisposition to ginger hair or left handedness, or might be related to a infamous criminal.

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