Making personalised medicine for cancer a reality

Judith Potts appeared in the Telegraph today discussing the future of cancer treatments.  Her article, on defining cancer by its molecular attributes as opposed to region in the body, highlights where research should be going.

It’s becoming clearer to scientists that lumping cancers as ‘breast’, ‘ovarian’ or ‘lung’ may not be useful when it comes to treating a patient.  Within each type of cancer there are many sub-types, which are all categorised depending on their molecular, genetic and physical characteristics.  But there is overlap between sub-types of one cancer, which blurs the boundaries that define them.  Cancers can also change during progression of the disease, masking their categorised features and developing new ones.

Cancers are also individual.  Tumours derive from the patient’s own cells and so each cancer is individually characterised by the genetic and environmental factors that have influenced that person’s life.   We know that certain genetic mutations are more likely to occur in certain cancers but the individuality of cancer means we can’t expect a blanket treatment for all patients with one type of cancer.

Judith proposes that molecular profiling for individual cancer patients is the way forward, and I am inclined to agree.  This method looks at a wide range of molecular markers that each represents a particular weakness in the cancer.  A clinician could then use this information to match up each weakness with a drug to exploit it.  This would be done on data gathered from a tumour of an individual patient, providing a clear road towards fully personalised medicine.  Clinicians could also get around the evolving cancer problem by taking new molecular profiles from the patient at different points in their disease and adapting their treatment accordingly.

This type of care for cancer patients is already available in some countries, if you can afford it, but there will be several problems to overcome when the technology becomes widespread.  Biotech companies that patent molecular profiling kits could increase costs.  Confidentiality around their product could also hide whether or not the molecular profiles are accurate.  This could lead to patients receiving an ineffective treatment or a treatment that causes harm.

There is also the issue that drugs approved for use for say lung cancer, may not have been tested against breast cancer.  Molecular profiling might tell you that a patient’s cancer has a weakness for that drug, but you would struggle to be able to give it to them.  And what about new experimental drugs?  With no evidence from clinical trials it wouldn’t be possible to use one even if you knew that the patients cancer would be sensitive to the treatment.  One way around this would be to reassess how clinical trials are set up and allow for greater flexibility in trial design (a discussion for another time).

Molecular profiling is on the horizon and offers obvious benefits to the way we treat cancer.   However, for it to work, the policy and healthcare system needs to evolve with the science.

Chemical imaging could be the future of cancer tissue analysis

A new method for analysing tumour samples has been revealed by scientists at Imperial College London.  Current methods are laborious, involving the manual testing and interpretation of tumour characteristics by a histologist.  In a new study, published in the Proceedings of the National Academy of Sciences, researchers describe how they are trying to take cancer diagnosis into the digital age.

The technology is based on a widely used technique called mass spectrometry, which is used to work out what biological molecules are present in a sample, such as blood or urine.  Using a modified version called mass spectrometry imaging; the researchers are able to generate an image of a patient’s tissue sample, showing the location and density of different biological molecules.

The technique works by passing a laser beam over a tissue sample, such as a tumour, which reacts with the biological molecules to produce a signal that can be converted into a pixelated image.  Each pixel of the image reveals how much of a specific molecule is present in that region of the tissue – producing a map that can reveal specific characteristics of the diseased tissue.

A cancer patient’s tumour is currently characterised based on structural features that are detected by staining with expensive reagents that require expertise to interpret.  Mass spectrometry imaging characterises tumours based on their molecular features and could provide a more accurate assessment of an individual’s cancer.  This could help guide clinicians to make the best treatment decisions for each patient and support a move towards more personalised medicine.  The technique can also be automated, allowing a computer to rapidly analyse hundreds of different molecules in one go, reducing testing time from over a week to only a few hours.

Dr Kirill Veselkov, corresponding author of the study from the Department of Surgery and Cancer at Imperial College London, said: “MSI is an extremely promising technology, but the analysis required to provide information that doctors or scientists can interpret easily is very complex. This work overcomes some of the obstacles to translating MSI’s potential into the clinic. It’s the first step towards creating the next generation of fully automated histological analysis.”





WDDTY – no evidence for their cancer claims

The last few weeks have been an eye-opener.  We have witnessed Lynne McTaggart slowly crumble under the weight of evidence brought against her by rational thinkers.  The self-proclaimed champion of free-speech has silenced debate on Facebook by deleting any comments that bring criticism to the toilet paper she calls a magazine.  The claim has always been that those banished from the spiritual realm of WDDTY – were so because of abusive behaviour.  Everyone knows that this is not the case, but in fact bans were dealt out for posting real evidence of fallacy in their claims.


I was personally banned for explaining to WDDTY supporter, Julia Barac, that WDDTY are not justified in the way they present the evidence.  Julia commented at one point that she believes what WDDTY publish because they reference scientific journals to support their claims.  I very politely pointed out that you shouldn’t be fooled and until you examine the evidence provided you can’t be sure that anything they have written is true.  As you can see in the screenshot of our conversation, Julia asked me to provide a couple of examples.  So I did – and a few minutes later found myself banned from commenting and all my comments deleted.

It would seem that trying to bring a rational argument – one supported by evidence – to WDDTY supporters is a sin.  I really want to emphasise to people like Julia just how poorly the writers at WDDTY are at presenting the evidence.  It may be an impossible task but hopefully by collating a large number of examples someone reading might have that ‘moment of clarity’ and see beyond the propaganda presented by Lynne and WDDTY.  Below is a comprehensive review of WDDTY publications on cancer and the editorial mistakes made in presenting the evidence.

16th October 2013 – Resveratrol in red wine helps beat cancer

This news article cites the scientific paper Fang et al. J Surg Res. 2013.

“If you’re having radiation therapy for your cancer, drink a glass of red wine first. Apparently, it makes the treatment more effective…”

This is already a gross misrepresentation of not only what the reference shows but what the body of evidence on resveratrol also shows.  First off, there have been no clinical trials investigating the benefits of resveratrol to radiotherapy, so to jump straight to the idea that you should drink a glass of red wine before radiotherapy is absurd.  Secondly, the referenced paper is a pre-clinical laboratory study using cells in a dish, a good starting point for any medical research but not evidence of clinical efficacy.

“right now, the researchers say there isn’t enough evidence for people to ditch conventional therapy in favour of resveratrol, but perhaps that may change when more data is collected”.

They researchers don’t say this at all.  They never suggest that resveratrol could replace conventional therapy in the future but suggest that ‘resveratrol may have a potential role as a radiation sensitizer for melanoma treatment’.  There is a big difference here – a radiosensitiser is a synergistic treatment used to improve the efficacy of conventional radiotherapy – not replace it.  The WDDTY article is only 150 words, and in that brief chatter, they have managed to cock up explaining a very simple piece of basic research.

 30th September 2013 – Sunscreens can trigger skin cancer, scientists confirm

This news article cites the scientific paper Turci et al. Chem Res Toxicol. 2013

In this example, the headline itself is a complete fabrication.  (1) There is no evidence that sunscreen causes skin cancer. (2) The referenced paper does not ‘confirm’ that sunscreens can trigger skin cancer.

“Titanium dioxide (Ti02) triggers a series of toxic effects—including skin cancer—when it is exposed to ultraviolet light, which is in the sun’s rays”.

This isn’t true – there is no evidence linking titanium dioxide in sunscreen to skin cancer.

Furthermore, at no point in the cited article do the authors mention that sunscreen could cause skin cancer.  What their paper shows is how UV light reacts with titanium dioxide to generate free radicals and modify lipid bilayers of cells in the stratum corneum.  To jump from this to ‘sunscreens can trigger skin cancer’ is absurd.  To state that scientists have now confirmed this when they haven’t is absurd.

30th July 2013 – ‘Safe’ HPV vaccine kills up to 1,700 young girls

We all know WDDTY’s stance on vaccination but claims like this are not only wrong but could potentially put people at risk of cervical cancer.  In this article they reference the CDC Morbidity and Mortality Weekly Report on HPV vaccination in the US (July 26, 2013).

This figure of 1,70,0 is actually 1,674, and more importantly is not the number of girls killed by the HPV vaccine.  The VAERS collects all the data on vaccine safety and collates ‘serious adverse events’ into one group, which includes hospitalisation, permanent disability, life-threatening illness or death – none of which have to be attributable to the vaccine itself but rather have occurred post vaccination.  So 1,700 is already an exaggeration because (1) it isn’t the number of deaths and (2) the deaths are not evidence that the vaccine was responsible.

Interestingly, when you look at the VAERS statistical report on HPV vaccine safety, you find that out of 12,424 adverse event reports there were a total of 32 deaths.  Out of these 32 deaths – 14 occurred after HPV vaccination alone.  And out of the reported deaths that had significant coronary reports – 4 were unexplained, 2 caused by diabetic ketoacidosis, 1 caused by prescription drug abuse, 1 case of amyotropic lateral sclerosis, 1 case of meningoencephalitis, a case of viral sepsis, 3 cases of pulmonary embolism, 6 cardiac related deaths and 2 due to idiopathic seizure disorder.

“Astonishingly, US health regulators say there are “no serious safety concerns” over the HPV vaccine. Instead, their concerns focus on the low uptake of the vaccine”.

I think it is clear why US health regulators are saying this – and I wouldn’t say it was astonishing.  It is too early to know the effects of HPV vaccination on cervical cancer cases, but if it goes the way other vaccines have gone, then I’d consider it dangerous to promote anti-HPV vaccine views based on no evidence.

20th May 2013 – Did Angelina get the right medical advice?

This article is from a longer feature which I have previously dissected in full.  It’s riddled with errors.

13th March 2013 – Bitter melon juice stops cancer’s growth

“Bitter melon juice seems to interfere with the growth of pancreatic cancer, researchers have discovered after they tested it on hundreds of patients across Asia”.

This isn’t true – there has never been a clinical trial of bitter melon juice for pancreatic cancer.  The evidence suggests that it has therapeutic potential in laboratory and mice studies but no in-human trials have ever been conducted.

28th January 2013 – Chemotherapy helps cancer tumours grow, say researchers

“Chemotherapy isn’t only useless against cancer—it even encourages the tumour to grow, researchers have discovered”.

This is a classic WDDTY statement about the apparent ineffectiveness of chemotherapy.  It is of course absolute bullshit and anyone with a rational mind would know that chemotherapy is in some cases the best treatment available.  The next bit is good because it suggests that chemo ‘even encourages the tumour to grow’.  The study they reference is Sun et al. Nat Med 2012.  The paper deals with understanding the mechanisms behind acquired drug resistance in prostate cancer patients – a major problem in clinical treatment.  They show that cyclic administration increases expression of the protein WNT16B via DNA damage pathways, which promotes a resistant phenotype within the tumour environment.  This is not ‘encouraging the tumour to grow’ but is an effect driven by selection of resistant clones as they adapt to therapeutic intervention.  This does not make chemotherapy useless – it means that new drugs need to be developed or combination therapies designed that circumvent resistance.

“They (the researchers) say that chemotherapy is “completely worthless” and that cancer sufferers would do better by avoiding the drugs altogether”.

Do I need to say anything about this ‘quote’?  What they actually conclude is: ‘We conclude that approaches targeting constituents of the tumour microenvironment in conjunction with conventional cancer therapeutics may enhance treatment responses’.

While I was writing this one I realised that Sun et al. were probably unaware that they had been quoted saying these things so I sent the lead author an email to find out.  Here is the response I got:

 It is very, very unfortunate that these groups routinely misquote scientific studies. The paper says nothing of the sort. The objective of the study was to identify resistance mechanisms to cancer therapeutics and to target them to make standard therapies more effective.

 Our study has been misquoted and misinterpreted—I believe on purpose—by several of these groups. However, I have not wanted to expend a lot of effort trying to correct this, unless asked directly, as it only adds visibility to their claims.

 However, your group and others are certainly more than welcome to go on the offensive and I would be more than happy to provide you with a quote or statement.

March 2012 Much more than placebo: Homeopathy reverses cancer

This is a diabolical piece of journalism on the supposed efficacy of homeopathy for cancer treatment.  Rational thinkers are aware that there is no evidence to support the efficacy of homeopathy for any medical condition – especially for the treatment of cancer.  WDDTY do not hold back in this article either and in my opinion straddle the clauses of the Cancer Act 1939.

The opening paragraph states: “studies paid for by the US government are showing that homeopathy could be our best defence against cancer. Several homeopathic remedies are as effective as powerful chemotherapy, according to clinical trials, and thousands of cancer cases are being reversed by homeopathy alone.

No reference to what US government funded study they are suggesting but no one yet has published a study proving that homeopathy is effective against cancer.  They also claim (with no reference) that homeopathy has been shown to be as effective as chemotherapy according to clinical trials.  I couldn’t find any clinical trials to support this and it is not my responsibility to find evidence for such extraordinary claims.  Same applies to the ‘thousands of cancer cases reversed by homeopathy alone’ claim.

“in one review of the work at the Prasanta Banerji Homeopathic Research Foundation, 21,888 patients with malignant tumours were treated only with homeopathy—they had neither chemotherapy nor radiotherapy—between 1990 and 2005. Clinical reports reveal that the tumours completely regressed in 19 per cent—or 4158—of cases, and stabilized or improved in a further 21 per cent (4596) of patients”.

WDDTY don’t really reference very well here and I couldn’t find the review they were speaking of.  The only Banjeri paper from 2008 was this one – a case study evaluation of 4 patients.  So there doesn’t appear to be any evidence to back up any of this statement and this is without taking into account the bias introduced by a review carried out by the person running the homeopathic clinic.

“The foundation’s homeopathic therapy—the Banerji Protocol—has been independently tested under laboratory conditions, and two of the remedies used, Carcinosin and Phytolacca, were found to be as effective against breast cancer cells as the chemotherapy drug Taxol”.

The reference they supplied has not been independently tested under laboratory conditions.  Prasanta Banerji is last author on the paper yet no conflict of interest is declared.  I couldn’t find any other papers that verify these results from an independent lab.  The only other relevant paper in PubMed was from 2006 and contradicts the evidence from Banerji’s paper.

“Another clinic in Kolkata, the Advanced Homeopathic Healthcare Centre, claims similar levels of success with its cancer patients and, although well documented, they have not been subjected to the same level of scientific validation as the Prasanta Banerji Foundation”

 No reference to these other clinical studies.

“Two of the remedies—Carcinosin and Phytolacca—achieved up to an 80-per-cent response, indicating that they caused apoptosis, or cell death. By comparison, the placebo solvent achieved only a 30-per-cent reduction, suggesting that the effect was more than twice that of the placebo”

This was a description of the lab study conducted with Banerji that has not been independently verified.  Bias aside, I would be very concerned that the solvent control achieved a 30% reduction; a suitable control should really have no effect in a well-controlled lab study.  This also cannot be described as a placebo effect.  Cells in a dish are not affected by the placebo effect.

There’s a whole section under ‘the other clinic’ which contains no references and just a load of anecdotal evidence – not convincing.

This whole article leans on the view that homeopathy is not only effective against cancer, but that it is better than conventional treatments.  Yet they provide no evidence to back up these extraordinary claims.  Without any evidence why would anyone believe that homeopathy works?  More importantly – pushing homeopathy as an alternative to conventional cancer treatment is unethical and dangerous.  This is why the Cancer Act was created and I do believe that publishing material such as this breaches that act.


WDDTY – preparing to breach the Cancer Act?

Cancer.  The Big ‘C’.  A life-changer.  The fear of cancer is one that lingers inside all of us – a mental condition attributed to what we hear in the press, our own personal experiences and the thought of an unseen parasite leeching our body of metabolites to satisfy its own insatiable greed.  It’s a big killer and a disease that defines how you live your life from the moment of diagnosis.  All I know is that if I get cancer, I want to be treated by medical doctors, using evidence based drugs to best treat my cancer.  I definitely would not allow a ‘qualified practitioner’ to give me a sugar pill – proven to be at best no better than a placebo – just because they said it magically remembers chemicals diluted 10 to the power of minus fuckery.  I am of course talking about homeopathy.

811918294I’m writing this post because on October 31st the outrageous quack-fest that is ‘What Doctors Don’t Tell You’ will be running an issue on homeopathy and cancer.  I’m sure that you are as excited as me to find out what incomprehensible bigotry towards evidence based medicine they have ready to spew onto the glossy pages being stocked at all your favourite retailers.  But we don’t have to wait – WDDTY have already blessed us with the ‘knowledge’ that homeopathy can treat and even cure cancer.

Their website carries a story titled “Much more than placebo: Homeopathy reverses cancer”.  I can’t read the full text because I am not willing to pay for access but in the quality snippet that’s free there are a fistful of claims such as “homeopathy could be our best defence against cancer” and “Several homeopathic remedies are as effective as powerful chemotherapy, according to clinical trials, and thousands of cancer cases are being reversed by homeopathy alone”.  This is of course utter nonsense.  There is no evidence that homeopathy is better than chemotherapy and it’s definitely not true that homeopathy ‘reverses’ cancer.  If this were the case then drinking water would be the ultimate cure.

WDDTY have also published articles claiming “Homeopathy has a ‘clinically relevant’ effect way beyond placebo” to cancer patients – a claim that was swiftly debunked by the Quackometer and by commentators on the original BMC publication that WDDTY cited.  Lynne Mctaggart – the abomination behind WDDTY – also likes to spill anecdotal evidence that homeopathy is all you need to beat cancer and treat your ‘will to live’.

Homeopaths will always come up with trials and studies showing ‘positive’ results and cite genuine articles ‘proving’ that homeopathy works.  The problem is that the studies are often not transparent and confounding factors are never taken into account.  When you hear someone say ‘look at this trial, the government carried it out, it shows homeopathy cures cancer’ just ask yourself: ‘if this is true – why was there no large-scale follow up trial and why is cancer still the leading cause of death worldwide’.

I have stated before that dealing out advice on medical problems, especially those that are as serious as cancer, with unproven and disproven treatments that have no evidence base is wrong.  It’s extremely harmful information that is targeted at those most vulnerable – cancer patients that are clinging on to the hope of a miracle cure.  It is because of this that the UK government implemented the Cancer Act 1939, which aims to protect the public from quack scam-artists selling false hope.

The Cancer Act states that ‘No person shall take any part in the publication of any advertisement containing an offer to treat any person for cancer, or to prescribe any remedy therefor, or to give any advice in connection with the treatment’.  It will be very interesting to see what WDDTY publishes at the end of October regarding homeopathy and cancer.  I for one will be reading intently with the aforementioned statement pinned firmly to the front page.


A disease shaped by history

Breast cancer, like all cancers, is a highly complex disease.  The combination of genetic mutations, environmental pressures and lifestyle choices make it difficult to pin down causation.  Plus the fact that each cancer is a product of self adds a level of individuality that only impairs classification.  New research out this week exposes the complexity of breast cancer and also highlights a strange correlation between race and risk.

The use of hormone replacement therapy (HRT) to reduce the symptoms associated with menopause has long been associated with an increased risk of breast cancer.  The study published this week shows for the first time how other factors combine with HRT use to affect breast cancer risk.  Amongst other things they discovered that factors like body mass index and breast tissue density determined the level of risk a women was at from using HRT.  The researchers also looked at any correlation with race and found that there was at least a 20% increased risk from HRT use amongst white and Hispanic but not black women.

The statistics on ethnicity and breast cancer are complex.  In the US, white women have the highest overall risk of breast cancer, while black women are much more likely to die of the disease.  There is a higher incidence of BRCA mutations amongst Eastern European Jewish (Ashkenazi) women, thus they have an increased risk of hereditary breast cancer.  Women of African ancestry seem to be at an increased risk of developing more aggressive forms of the disease such as triple negative breast cancer (TNBC).  Male breast cancer is also more prevalent amongst men of African ancestry than any other ethnicity.

But why is this?

Ashkenazi Jews can trace their roots back to a small Jewish community with origins to the ancient Israelites of the Middle East.  Generations of reproductive isolation following their movement into central and Eastern Europe may have contributed to specific genes becoming prevalent.  The general idea is that random changes to genes that confer a survival advantage will inevitably replicate within a population and come to dominate the genetic landscape by a process called adaptive evolution.  The problem with this theory is that BRCA mutations would have to confer a survival advantage, which as of yet, no one has managed to ascertain.

In depth studies into the statistics, genetics and variation in BRCA mutations amongst modern Ashkenazi Jews suggest that processes such as random genetic drift and the founder effect are more likely to be responsible.  These phenomena may have occurred due to a population bottleneck when a small portion of Ashkenazi Jews migrated to Europe.  If the majority of these migrants carried BRCA mutations then natural selection would not remove them from the population, rather they would remain dominant, creating a drift in Ashkenazi genetics that has remained in modern descendants.

So what about the fact that TNBC is much more common amongst women of African ancestry?

This is still a bit of a mystery but one recent study of breast cancer genes found several mutations that were more prevalent in the African American population.  Moreover, these mutations were strongly associated with triple negative breast cancer, suggesting that genetic predisposition may play a big part.  It turns out that BRCA mutations are also linked with triple negative breast cancer so it has been postulated that African ancestry might be associated with a hereditary disposition to TNBC.

Genetic and population history sets out a nice story explaining the relationship between racial history and diseases.  Of course it’s interesting to put the timeline of events together but the real benefit will come from knowing how to use it to improve prevention so that incidence and risk is not confounded by ethnicity.

The sweetness of cancer

Recently, I have noticed an increase in the number of headlines that mention ‘cancer’s sweet tooth’, ‘cancer cells sugar craving’ and even ‘sugar is cancers favourite food’.  I don’t have an issue so much with the analogy but I do think that it simplifies the reality a little too much.  Metabolic regulation within a cell is extremely complex.  Just looking at this diagram should be enough to convince you.

Scientists know that as a tumour develops there are fundamental changes to the metabolic programme of cancer cells.  Being a cell is a very energetic lifestyle and in order to keep up with the relentless days and nights of manufacturing proteins, breaking down molecules and warding off toxic compounds – cells need a decent supply of energy.

Under normal conditions this is readily achieved by a process called aerobic respiration.  Here’s a quick, school biology catch-up:

Glucose + oxygen → carbon dioxide + water + ENERGY

This ‘energy’ is actually a molecule called ATP or adenosine triphosphate.  It is this molecule that is used to keep the lights on, so to speak.  Just to reiterate how incredibly simplified the above equation is – here is a fuller picture of aerobic respiration.

The problem with tumours is that as they grow they become increasingly cut off from the body’s blood supply.  This creates an environment that is very low in oxygen and as such the amount of aerobic respiration that can be done is reduced.  When this happens the cell starts kicking out a protein called HIF-1 which rapidly activates genes that control a process called glycolysis.  This is another metabolic pathway, like aerobic respiration, except that it can create ATP from glucose without the need for oxygen.  Interestingly, what happens in cancer cells exposed to this pressure is they end up permanently switching on their glycolysis programme, so that even when there is oxygen available they preferentially manufacture ATP by glycolysis (a phenomenon known as the Warburg Effect).  The problem with this is that glycolysis is massively inefficient compared to aerobic respiration – producing only 2 ATP molecules compared to 38 – from one molecule of glucose.

It is this that has led to cancer cells to be called ‘sugar addicted’.  Not only do they produce very little ATP per glucose molecule, they are also much more energetic then normal cells, so they require a lot more glucose to keep themselves going.

This might sound simple enough and warrants the simple analogy but in reality it is much more complex.  Emerging research has shown that the environment around tumour cells, called the stroma, also plays an important role in cancer metabolism.  Healthy cells within the tumour stroma have been shown to succumb to the Warburg Effect and as a result begin to ‘eat’ themselves to obtain fuel to make ATP.  This is also driven by the lack of oxygen within the tumour stroma and results in energy rich nutrients spilling out into the local environment.  It has been proposed that cancer cells take up these nutrients and use them to produce their own energy.  Interestingly, these nutrients include compounds called ‘ketones’, which are much more efficient at producing ATP when metabolised by cancer cells.

So it is not clear cut whether cancer cells are ‘addicted’ to sugar.  They definitely require a lot more ATP and so they definitely need more fuel to produce it.  But the complexity of the varied metabolic systems and the relatively unknown contribution of the tumour stroma make it difficult to establish exactly what is going on.  This is something that needs to be taken into account when establishing how the Warburg Effect can be targeted therapeutically in cancer.

Genomic privacy – is it possible?

In the wake of Edward Snowden’s whistle-blowing on the NSA, the public debate over personal security has never been so heated.  The global concerns over privacy filter into all domains and no less in the spotlight is the ever-evolving field of human genome sequencing.

In 2004, the first ever human genome sequence was published; reporting in A’s, T’s, G’s and C’s the twenty or so thousand genes defining what makes a human being.  This was the culmination of the 14 year long Human Genome Project (HGP), costing billions.  Less than 10 years later and we are on the cusp of the ‘£1000’ genome – accomplishing what the HGP did in a matter of days and for a (ridiculous) fraction of the cost.  Although technologies and methods have been refined, the debate over ethics and privacy of genome sequencing has always remained an issue.

Even at conception it was realised that the HGP would bring with it serious social and ethical implications.  In 1988, Thomas Murray – then Director of the Centre for Biomedical Ethics – pushed to have 3% of the budget allocated to dealing with ethical, legal and social issues.  His concerns were with issues of ownership, who would be allowed to use the data, the accuracy of the information and how to control access to the data.

In 2010, these sentiments were echoed again when the ‘UK10K’ project was launched by the Sanger Institute.  This project aimed to sequence 10,000 genomes of patients with specific diseases to build a database for global genetic research.  The ethics report behind UK10K leaned heavily on data access, ownership and how to communicate the findings.  This year, to celebrate the 65th anniversary of the NHS, the Government announced an ambitious project to sequence 100,000 genomes as part of Genomics England.  Again, the same ethical and social considerations have been thrown into light.

But is there any basis for these concerns?  Advocates would argue that genome sequencing will lead the way for discovery of the genetic basis of complex diseases, allowing new treatments or even cures to be developed.  The main ethical consideration can be summed up in a quote by Professor of Philosophy and Ethics Carol Tauer – “the notion that our genes are the program that determines who we are, and that when we know all the genes we will know the human being, both generically and individually”.

We can see evidence of this as recently as March 2013 when German scientists published the genome of the common laboratory cell line, HeLa.  More personally, they published the genome of Henrietta Lacks, the women whom the HeLa cell line was originally obtained.  Henrietta died in 1951 but the release of her genome into the public domain still sparked international controversy.  The descendants of Henrietta were never consulted before release of the genome which raised concerns over whether there was any consent given.  Henrietta’s genome was quickly retracted and remains private while the ethical debate continues.

Henrietta’s family have right to be concerned – after all, information derived from her genetic code could provide sensitive data on her descendants.  As such, many people have concerns that the misuse of genome data could potentially lead to an individual being identified and provide an avenue towards ‘biological spying’.

But how easy is it to identify someone from their genome?  One man put it to the test.  Yaniv Erlich, a computational biologist from the Whitehead Institute for Biomedical Research, published a report in 2013 exposing the vulnerabilities in databases holding sensitive genomic information on individuals.  Yaniv had the idea that by using short tandem repeats (STRs), or the portions of DNA used to identify individuals, he could hunt through public genealogy databases and find a name.  He tried it out on a full genome that was published in 2007.  Using the STR profile of the Y chromosome Yaniv scoured a genealogy database and found a few likely candidates.  Digging a little deeper he discovered one name which matched the location and age of the donor listed in the genome publication.  It belonged to J. Craig Venter – the genomics pioneer who was publicly known to be the owner of that particular genome.

This was merely a proof of concept for Yaniv and he used Venters genome as it wouldn’t raise any ethical concerns seeing as the information was already public knowledge.  Yaniv moved on and tested his method against anonymous donors with disturbing results.  His team managed to identify nearly 50 people from apparently ‘anonymous’ DNA donors.

So as the genomics era soldiers on we are continually met with the same concerns that were there at the birth of whole genome sequencing.  It will always be a struggle to maintain a balance between ethics and scientific advancement, particularly when it involves information as personal as your genetic code.  With increasing technical capabilities and the exponential growth of personal data available freely on the web – security, privacy and anonymity may never be guaranteed for those promised it.

It seems obvious that better safeguards need to be offered so people can feel more comfortable with supplying genetic information.  But how we go about it is a complex issue spanning science, ethics, policy and law.  What we should aim to emphasis is that the privacy issues should never retract the importance of whole genome sequencing to medical research.  Genetic studies such as the Cancer Genome Project at the Sanger Institute have revolutionised our understanding of cancer and led to the development of successful treatments.

In an attempt to expose the exploitation of personal information by the US Government, Edward Snowden has ignited a revolution in digital privacy, a move that may cost him his freedom.  Let’s hope that something so drastic doesn’t have to happen in the future in order to protect the one thing that makes us truly individual – our genome.