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Should you get your genome sequenced?

Genome sequence data

A US genetics company has announced that it plans to offer whole genome sequencing for as little as $599. Why is this a game-changer and what does this mean for the man in the street? What impact will this have on the way we manage our health, wellness and predisposition to disease? What safeguards need to be in place in terms of ethics, data security and confidentiality?

Just over 10 years ago, the $1,000 genome seemed like another pipe dream, a modern day moon-shot; indeed, the Archon Genomics X Prize was launched in 2006 with prize money of $10M to the first team to “rapidly, accurately and economically sequence 100 genomes at an average cost of $1,000 per genome”. That this competition was cancelled in 2014 because it had been “outpaced by innovation” is testament to the unprecedented speed of development of DNA sequencing technologies.

And now George Church, one of the world’s leading genomic innovators, has announced that his company, Veritas Genetics, will be offering whole genome sequencing for as little as $599. This is truly mind-blowing! This has the potential to bring whole genome sequencing to the masses, something I never expected to see in my lifetime.

Making genomics more accessible

Up until now, DNA sequencing has been used almost exclusively by clinicians for the diagnosis of genetic diseases, for the characterisation of specific mutations in cancers and for directing targeted therapies. Access to genetic testing has been controlled by clinicians and healthcare providers acting as gatekeepers.

However, more recently, companies such as 23andMe have started to offer genetic testing directly to consumers (DTC) and without the involvement of a healthcare professional, with prices ranging from $49-$199, driving interest in genetics and primarily being used for ancestry testing. 23andMe claims to have sold over 10 million DNA testing kits!

But 23andMe can only tell you about a very small number of specific DNA changes and their clinical impact, for example being a carrier for a common mutation in a recessive genetic disorder such as cystic fibrosis. Here’s the rub, since 23andMe only analyse 600,000-1,000,000 DNA markers, roughly 1/3000 of a whole genome, their customer will only get a very small piece of the picture. By sequencing the whole genome, the consumer gets the full picture meaning more comprehensive health-care data and insight.

This is what is so truly amazing about an affordable genome. For a relatively small amount of money, a consumer can have their entire genetic blueprint generated. The next problem though is what to do with all that data? How do you convert data into meaningful, actionable information?

Interpreting the human genome

Sequence once, analyse and re-analyse multiple times at different stages during your life should be the mantra. You can choose which parts of the genome to analyse and which parts to ignore.

You can decide at what point in your life to analyse your genome for specific DNA markers; for example, knowing you are lactose intolerant at an early age is important to tailor your dietary requirements; finding out that you are predisposed to a severe, late-onset neurological disorder may not be so desirable, but these are the choices we will learn to live with as we understand more about our genome and preventative and therapeutic interventions are developed. What is an ethical dilemma to us now, will be routine in years to come.

In the US, integrated healthcare providers such as Geisinger Health are piloting routine screening for their patients for mutations in a set of 59 medically actionable genes as recommended by the American College of Medical Genetics (ACMG). Mutations in one of these genes, LDLR, causes familial hypercholesterolemia, which can lead to premature heart failure. Cascade screening – extending genetic testing to first degree relatives, is then important to ensure other family members carrying the mutation can also modify their medication, diet and lifestyle accordingly.

In more severe cases, it is possible to uncover sinister mutations in other genes that predispose to sudden cardiac death or cancer. The main issue that consumers face is how to interpret and react to such information, how to assess risk and how to modify diet and lifestyle or gain access to treatment. This is what healthcare professionals and healthcare providers are worried about, facing a tsunami of patients with genome data and test results that require counselling, support and medical interventions for which there are insufficient resources and funding.

Who to trust with genomic data?

Presented with your whole genome sequence, what do you do next? Who do you choose to analyse your data? What analysis/testing is considered ethical? How can you be sure your data is safe and won’t be shared with or sold onto third parties without your consent? Who can be trusted with your data?

These are precisely the questions that the UK House of Commons Science and Technology Committee is seeking to answer following a recent public call for evidence into the regulation of Commercial Genomics. Expert witnesses will provide written and verbal evidence to help inform the committee and their findings will likely be published in 2020. Developing best practice guidelines, enforcing quality standards and monitoring companies providing health related analysis of genome data is a cautious but sensible way forward.

Ultimately, the democratisation of genome data generation and analysis is a positive development giving people more control over their healthcare. Individuals should own their DNA sequence data and be empowered to choose how they manage, analyse and share their data. Education will be key and it will probably take a generation before genetic literacy is common place.

So having been presented with the facts, if you could afford it, would you get your genome sequenced? We live in exciting times, it will not be long before we are all comparing notes on our genome data!

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