Tag: genetics

The Zero Dollar Human Genome Sequence

I recently wrote about the inevitability that you will soon be able to get your whole genome sequenced at $100, you already can get your exome – a genomic technique for sequencing all of the protein-coding genes in a genome (the low hanging fruit) sequenced at that price-point. The actual hardware is also getting cheaper. A handheld sequencing device has already been produced by the trailblazers at Nanopore. Governments are getting in on the act too. In the UK, the Health Secretary has recommended that all children have their DNA sequenced at birth.

But what happens if we extrapolate one level further – to no costs? What about the zero dollar genome sequence?

We have seen many business models move towards ‘free at the functional level’. Many apps have disrupted the way in which we do things. From Spotify for ‘free’ music to mobile apps in the gaming industry’ The model becomes successful when the cost per unit becomes less than that of the extra value options which are sold as ‘add ons’. We imagine a world where people will be actively querying their genome for things we already do, such as ancestry and phenotypic traits (the observable characteristics of an individual based on your genetics), all the way to drug response levels and more nuanced healthcare options.

The difference between sequencing a person’s genome and giving them access to a copy of a game or a song, is that there is a fixed cost with every genomes sequenced. However, your secure sequenced genome itself is inherently an appreciating asset, as medical research will unlock more answers about who you are based on your genomes over time. The unknown unknowns about your genomes continue to be unravelled, as the field of epigenetics (the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself) has already proven. The more information there is about your genome, the more opportunities you will have to query and benefit from it. If each new revelation comes with a small price tag in the way that buying extra lives on Angry Birds does, covering the cost of initial sequencing rapidly becomes a reality.

One other alternative is a subsidised model. As mentioned above, governments could be saving vast sums of money, particularly in tax funded healthcare systems like the UK – if everyone had access to their own genome and could provide access to medical professionals throughout their life. We envision a world where secure human genome sequencing happens at the start of life, as part of a newborn baby’s health checks. Whether this is paid for by a government, an insurance company or provided at no cost by our team at Genomes.io becomes trivial. The profound impact on the future of personalised medicine and healthcare however, cannot be overstated.

Genomes is exploring both of these options as part of our business growth plan. Each transaction of transfer of value through the genome interfaces we provide will require the use of GENE tokens, thus pushing up scarcity levels and making GENE tokens more valuable. This means that those who help out the Genomes.io platform in the early days, through the ICO will be very well rewarded.

We feel that these two ideas can come together nicely if we abstract this concept one level further. That is why we will be offering early investors in the Genomes pre-ICO the exclusive option to have their genome sequenced in a private and secure manner as our way of saying thanks. By building the most secure infrastructure with the most interesting query panels, we believe that the value we will be providing to humanity, is in the querying of the genome.

 

We believe that we can lead the way in technology, so that having your genome securely sequenced becomes a human right and not a medical opportunity that is only afforded by the rich. This also could contribute to solving one of the major challenges in genomics, diversity and underserved populations.

Help us get there by joining the conversation on telegram, or getting in touch at info@genomes.io for early investment options.

What is a genome and why should I care?

At lunchtime on the 28th of February of 1953, Francis Crick & James Watson interrupted patrons at The Eagle pub in Cambridge to proclaim they had “discovered the secret of life” after discovering the structure of DNA. Crick and Watson shared the Nobel Prize in Medicine with Maurice Wilkins for their discovery of the double helix, the overlooked contribution of Rosalind Franklin was recognized posthumously.

Their work was an important step toward one of the most profound discoveries in human history, the mapping of the human genome which was completed in 2003. The impact of the discovery was widely understood within scientific disciplines, but the general population is yet to realise the potential it has to change all life on earth.

 

What is a genome?

A genome is the collective name given to a set of genes that make up an organism. It essentially acts as the instruction manual for how an organism is created, genes control a vast range of traits from physicality and functionality to personality. Every single organism on earth has a unique genome, I have a genome, you have a genome, a chimpanzee has a genome, a worm has a genome, a blade of grass has a genome. The genomes of two humans are similar, the differences in our genomes is what makes every person unique and vastly different to a worm.

Humans have around 20,000 different genes, every person has two copies of each gene and they inherit one copy from both of their parents. Genes dictate simple physical traits things like hair or eye colour, right the way through to complex body functions such as controlling how susceptible people are to certain diseases and how they would react to certain treatments. Genes also control some traits that appear more behavioural, like how susceptible someone is to addiction. The collection of genes make up the genome and results in the unique blueprint for how your body is made, from innocuous traits through to fatal flaws.

By understanding the genome, humankind has unimaginable potential to change all life on earth.

 

ELI5:  A genome is like a recipe for a cake. The genes are the individual ingredients that when mixed together create an organism cake.

 

The Wheat Genome

A simple example is the wheat genome whose sequence was complete by researchers in October 2017. Wheat is a staple crop for over 2 billion people worldwide, by understanding the genome we can help farmers generate a more stable, reliable yield year on year and breed strains that are resistant to climate change, diseases and other stresses. By understanding the wheat genome we could take significant steps toward eradicating world hunger.

 

Why should I care?

We have lifted the lid on the building blocks of life and as with every monumental discovery there is the potential for good and the potential for harm.

The first genome sequence cost around $2.7billion and a huge amount of scientific effort to achieve. The cost in 15 years has reduced to below $1000 and Illumina announced in 2017 that the ‘race is on’ for the $100 genome. As the cost decreases, the potential applications increase and awareness in the general population is raised it’s reasonable to think that in the not too distant future everyone will have their genome sequenced.

 

 

But under what circumstances will you have your genome sequenced? Will it be voluntary or mandatory? Who will be responsible for the sequencing? Who will pay for it? Who will own the data? What control will you have over access to your genome? What are the implications of having the entire world’s population genomes in a database?

Here are three hypothetical scenarios, all of which are realistic and could potentially happen in the our life times.

 

Scenario A

The UK government mandates the entire population to have their genome sequenced in order to be eligible for free healthcare via the NHS. The service is free, the government owns the data and restricts access to medical practitioners. Everyone is entitled to a summary report of their genome data, much like medical records are handled today.

 

Scenario B

A private company offer genome sequencing and provide a summary report of notable characteristics. The service is free, individuals are entitled to a summary report and can grant access to medical professionals but the data is owned by the private company and can be sold to other private companies.

 

Scenario C

The UK government gives the option for citizens to have their genome sequenced, their data is encrypted and stored on the blockchain. The government subsidises the cost of sequencing but individuals need to pay $100 for the service. Individuals can see a summary report of their genome and control access to their genome to medical professionals or private companies.

 

Now let’s analyse some of the characteristics and possibilities of each scenario:

 

Scenario A Scenario B Scenario C
Cost Free (paid in taxes) Free (sold to companies) $100
Where is the data stored? Government data centres Private data centres Blockchain
Who owns the data The government Private company The individual
Who controls access to the data The government with limited access for the individual Private company with limited access for the individual The individual
Could a private company buy access to the data without the individuals consent. No Yes No

These are only a few possible scenarios and a small investigation into the implications of each. Hypothesising about the future impact of genomic sequencing can result in a dystopian eugenic nightmare or a utopian dream where all illness & disease are cured.

I liken the sequencing of the human genome to the invention of the world wide web. On day 1 there was little interest apart from those directly involved in the field, those who could access, understand or have an application for the new technology. Over the years the potential of the world wide web was realised by more and more people, 30 years on it is ubiquitous in the western world and fundamental to our society.

The future of the human race hinges on the technologies built upon our understanding of genomes. At Genomes.io we see ourselves as playing a small but vital role to ensure that whatever the future holds for genetic sequencing, that individuals are in control of how their genome is used by companies and governments.

 

If you’d like to get all of the updates from the Genomes.io team, you can join our Telegram Group here follow us @genomesio

It started with a quiz …….( & a home DNA test )

So, you’ve you filled in an online quiz see what your answers tell you about your personality. Many of us have probably done similar. Which sports personality are you? Which celebrity are you? A pretty inane way to pass the time with outcomes that no one really cares about. But what if you’d known that by filling in that quiz your details and that of your friends are being shared at will  and utilized however the quiz owner chooses.

 

We’ve heard recently that Facebook struck a deal with Cambridge Analytica to share data on up up to 50 million Facebook users harvested from answering a simple personality quiz. This was against the Facebook terms and conditions at the time, but would you have known that if the media hadn’t told you?

 

It’s highly unlikely that the answers you provided on that particular quiz will ever be used against you, after all, the data has supposedly been destroyed. However, If we take this a little further than social media, what if not reading that license agreement, the T’s & C’s, the privacy policy or the app permissions meant that far more sensitive information was released about you; your bank details, your passwords, your address, your DNA, released into a marketplace where it can be bought or sold without you even realising? This would surely be a personal disaster and you would be more careful on what you agree to.

 

DNA?

 

YES.  With the ever-growing popularity and simplicity of home DNA testing ( or genotyping as it is formally known) from services like 23andme.com, ancestry.com and helix, a huge amount of valuable data is being gathered  and more importantly stored, trended and traded with major pharmaceutical companies, and up to 80% of their customers are agreeing to this sharing of data in the interest of genetic research. But, we also have to understand who owns that data and already there are concerns over the clarity of the privacy policies for such companies.

 

The genotyping service that these companies provide for $99 (or less in the Black Friday sales), will only give you limited results from your spit sample. Limited because they currently only carry out a small portion of the possible testing that could be done on your sample (Approximately 0.1%). Yes, the genotyping service is great if you are looking for a brief insight into your DNA and it makes a great gift but the actual possibilities are far more interesting.

 

The real and complete test is known as full genome sequencing. With a little more effort and expenditure, EVERYTHING, 6 billion genetic building blocks, the entire makeup of you, can be analysed and reported on.  

 

Currently, full reporting is not commonly offered due to being cost prohibitive, but, in recent years, the cost of carrying out the sequencing of a full genome has dropped dramatically from $100 million in 2001 to around $1000 per genome in the present day . That cost is expected to continue to fall and, with no doubt, the aforementioned web services will start full sequencing. With each test that customers submit their data mine gets bigger and bigger and therefore more valuable. This is where the box ticking to not share your data becomes really important…….

 

Of course, data sharing is optional, as is if you prefer they store your sample or at your explicit  request have it destroyed. Why would they want to keep your sample anyway, that would cost money?! Maybe, as costs continue to fall they  have realised they will be able offer you a discounted full genome sequence in the future. Forward thinking…..and wow, they certainly have a lot of samples.

 

Ancestry.com have reported that in 2017, up to 1.5 million test kits were purchased between black Friday and Cyber Monday, that’s 1.5 million in a weekend! Overall it is estimated they have sold 6 million tests since launch in 2012. If even a portion of these kits are utilised, the available database is phenomenal. For example, cross referencing the chances that males living in Northern Europe at age 40 with blonde hair and blue eyes have a specific condition could be pure gold for some very targeted marketing campaigns through the likes of Facebook (they already know what you look like and where you live).

 

With the way the technology is currently progressing, it is possible that in the future, that full genome sequencing will be carried out at birth, the BabySeq program is already underway  in the US as a pilot. There will likely be some questions raised by this but many will allow it to go ahead and also  allow their data to be shared without too much thinking.

 

Considering the above, whether it is your newborn’s data or your own, once the sequencing is complete, you need to know what to do with all the data. Your personal genome and its associated data could top 1TB. We’re not just talking about size, we seriously need to think about security.

 

The data could tell us so much about ourselves, but just as  importantly it could tell other people or companies things about us we might not want them to know. In a recent study in the US whereby a random group of 50 40-50 year olds were sequenced, 20% of them found they had an underlying condition they didn’t know about and were not displaying any symptoms. Would you really want your life insurance provider to have unlimited access to this information, if you had a high risk of developing a specific health condition, they might refuse to cover you on that one condition or even not cover you at all. What if your employer got hold of your data? Would you be discriminated against automatically? Could you even be blackmailed for your data? Not only can the data save lives but in the wrong hands could ruin lives.

 

Your limited data may already be shared anonymously to third parties but with access to a full genome it may not be long before they can add a name to the data. After all, the ancestry.com test results already shows us potential relatives when it sends the results back, it wouldn’t take long to build up a family tree.

What if you could keep your data secure and make it work for you at the same time?

 

Genomes.io is leading the way in offering a full service genome store, purchase your sequence, store your data in the cloud and even trade your data anonymously utilising super – secure Rockchain technology or mix any combination of the above. All this whilst giving assurances that your data is completely safe.

 

It also provides an ethical means for the third parties to interrogate your data in a transparent manner protecting you and the requester  from future allegations of foul play, only sharing the parts of your data you agree to share, no hidden T’s & C’s where you give up the rights to your data.

 

Utilising the GENE token from Genomes.io, third parties can request access to parts of your completely anonymous data. Should you choose to accept the trade, you will receive your GENE tokens and the requester will receive the data almost immediately.

 

Apart from sharing your data for research purposes you will also be able to use the tokens to interrogate your own data in a normal manner, without having a geneticist on hand! Imagine, just typing ‘am I allergic to milk?’ and getting an instant definitive answer without the need for costly trips to the clinic.

 

So whilst the rest of the world worry about the Cambridge Analytica scandal, maybe you have just put your sample in a tube and are about to test your DNA, but you’ve thought twice and ticked that box not to share your data. After all, it is the most personal data you own and it truly does belong to you and you alone.

 

And to think, this all started with a quiz!

 

If you’d like to get all of the updates from the Genomes.io team, you can join our Telegram Group here follow us @genomesio

The Emerging Science of DNA Cryptography on the Blockchain

Science has massively progressed when it comes to DNA discovery.

In a 2005 Ted Talk, James Watson reveals that upon his 1953 finding of the DNA Double Helix Structure (together with Francis Crick and Rosalind Franklin) there were no grounds to patent their invention because nobody could figure out what ‘on earth’ it would be used for.

The year 1953 feels like centuries away if you look at the infinite possibilities of what we are able to do with this incredible discovery today.

In 2007 it was the same James Watson who became the first person to have his entire genome sequenced – making all of his 6 billion base pairs publicly available for research.

Today, media platforms like Mashable and The Guardian are offering general consumers hands-on advice on which DNA tests to gift for the holidays and for less than £20 you can buy a Paternity DNA Test Kit at your local drug store.

On a scientific level we are able to perform highly complex procedures such as a liquid biopsy, a cancer-related DNA alteration before the patient experiences the symptoms or investigate what actually causes conditions such as Autism.

As it becomes more clear to us what the great advantages are of Watson’s original findings from over 64 years ago, we also notice that an accelerated uptake can come with grave risks.

In a 2017 interview with WIRED Science, the Stanford Biologist Gil Bejerano revealed that something needs to be done to ensure that people’s genetic code will not be used against them.

“People rightly worry that their genetic code might be used against them by insurers or hackers. If a patient held the cryptographic key to their data, they could get a valuable medical diagnosis while not exposing the rest of their genomes to outside threats.”

Just like ourselves, Bejerano is an advocate to encrypt personal genetic data so it can never be used against its rightful owners for reasons they gave their consent for.

An encrypted technology would allow individual users to keep their privacy but also help them to disclose relevant parts of their genomic sequence for purposes that they see fit.

Gil Bejerano’s sentiments are echoed by Kristen Lauter, Head of the Cryptography Department at Microsoft who likens the encryption in Science Magazine to: “locking a gold brick in a safe with a pair of gloves attached to openings in the side. A jeweler could still use the gold to make jewelry without ever having full access to the gold brick.”

We love Lauter’s comparison and are working hard on creating the perfect vault system on the Blockchain to ensure that our users can safely share their DNA data with others. In an earlier post we explained what our approach is and how we envision the growth of our system and company.

The birth of Genomes.io comes almost 7 decades after Watson’s initial discovery. A great deal has happened since 1953 and we sincerely hope that a lot more scientific progress will be booked with our genomic sequence in the midst of it all.

Yet we do need to ensure – at all times – that our genetic data are used for the right purposes, with our explicit knowledge and consent.  

Or as Kristin Lauter puts it: If we don’t think about it now, in five to 10 years a lot people’s genomic information will be used in ways they did not intend..”

 

If you’d like to get all of the updates from the Genomes.io team, you can join our Telegram Group here follow us @genomesio

The Human Genome Race – Part 2 – Privacy

In his last year of presidency, Barack Obama spoke about genetic privacy in the following way: “I would like to think that if somebody does a test on me or my genes, that that’s mine…if I am sick and voluntarily I want to join with other people who have a similar disease to mine and donate our data to help accelerate cures”. Much has changed since then, not all of it bad, and a new human genome race that may dominate the future of medicine as we know it, is on the horizon – privacy.

 

You will soon be able to get your whole genome sequenced for as little as $100, you already can get your exome sequences at that price-point. The actual hardware is also getting cheaper. A handheld sequencing device has already been produced by the trailblazers at Nanopore. Governments are getting in on the act too. In the UK, the Health Secretary has recommended that all children have their DNA sequenced at birth. This information combined has led market analysts to predict huge growth in the space, taking it to 2 billion consumers and $25 billion dollars.

 

You may have heard about the promises around personalised genetic data for scientific research, but you may not have heard about the interest from big business. Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. Fear of discrimination is a common concern among people considering genetic testing. On May 21, President  Bush signed the Genetic Information Nondiscrimination Act (GINA) of 2008 into law. Senator Ted Kennedy hailed GINA as the “first civil rights bill of the new century.” The new law prevents discrimination from health insurers and employers. However, the Council for Responsible Genetics found that there are 500 cases of individuals who have been barred from employment or lost their health and life insurance based on an apparent or perceived genetic abnormality.

 

This hasn’t deterred big business. The leader in the personalised genetic sequencing race, 23andme, has already sold their customers data to Genentech. Google will show geneticists how to upload DNA data to the cloud. Government is not immune to this either. The NHS has a history of selling information to third parties, including drug and insurance firms. However, it cannot be denied the efficiency and value in the products that these commercial products are creating. It could be argued that restricting access to this pool of information will restrict the speed at which medicine advances in this space.

 

So begins part 2 of The Human Genome Race – Privacy

 

For those unfamiliar with part one, at the turn of the millenium a publicly funded consortium took on the private company Celera in a race to be the first to sequence the human genome. The race caught the attention of researchers, world leaders and the general public. While some  would say that Celera won the race, both parties had their results published in leading scientific journals at the same time. Then there are those who argue that Celera was better at issuing press releases than the government-funded consortium.

 

So, who are the new players in this race? They can be easily separated into 2 categories; blockchain based start-ups and the establishment, as well as those who seem to straddle the fence between the two. 23andme, as previously mentioned have history in the privacy space. The fine print at 23andMe says the firm shares de-identified, aggregated DNA information by default with third-party firms to improve their service. More than 80 percent of customers also consent to share more widely, allowing the firm to share with or sell data to pharmaceutical companies. Whether they actually know that they’re agreeing to this is another question.

 

Nebula Genomics, co-founded by genetics legend George Church “de-identified” data with public databases aimed to help science. Church is also the founder of Veritas Genetics and a Director of the Personal Genome Project. Veritas shares “de-identified” data with public databases aimed to help science. So security is high on everyone’s agenda. What has blockchain got to do with it? Blockchain essentially means an unhackable ledger. With this trustless mechanism technology applied to genomics databases, people can choose who can access their data. Even better they can sell controlled access. As the table below shows, there are a few early contenders in this space, with 2 groups focussed on complete end to end privacy, Nebula Genomics and Genomes.io

 

As the hype of blockchain oozes into every industry, its becoming more and more apparent that genomics could be the first real killer app in the space. As suggested above, privacy is already required at every step for genome sequencing, but the same logic can be applied to every personalised medicine process, from blood tests to microbiome mapping.

 

The second interesting angle that blockchain brings is the the ability for the data owners to profit by sharing their genomic data, with contributors receiving a virtual currency and partial ownership of the database.

 

Combining the drop in technology costs, the promise and demand of personalised medicine and the incentives for privacy, the market is set to boom. The race is on to see which of these blockchain companies can execute on their plans in the most engaging and efficient ways. Who is your money on?

 

If you’d like to get all of the updates from the Genomes.io team, you can join our Telegram Group here follow us @genomesio

What’s it all about? Private personal genomics on the blockchain

Genomes uses https://rockchain.org/ technology to provide private querying of personal genomes on the Ethereum blockchain!

Everyone’s is different and highly personal. Simply storing personal genomic data on the blockchain is not enough. ‘Genomes’ allows people to have complete confidence in the security of their personal genome from the moment the data comes off our machines. We offer low cost, high quality, market leading genomic sequencing and security.

We aim to sequence 1 billion people’s genome and power new insights by empowering the owners to control access to their genome.

Users can grant selective, controlled, auditable access in exchange for financial reward (GENE tokens) or to ask questions of their data as the field of genomics discovers more about our genetic code.

 

If you’d like to get all of the updates from the Genomes.io team, you can join our Telegram Group here follow us @genomesio