Growing genomics: The latest developments in genomics

9 June 2017 14:00

The potential benefits of genomics are well documented in healthcare, European Pharmaceutical Manufacturer reporter Reece Armstrong examines the latest developments in the field.

Ever since the completion of the Human Genome Project in 2003, the benefits of DNA sequencing have been linked to an era of personalised medicine, where better treatments can be produced based on the genetic-makeups of individuals. Targeted therapies, preventative medicines and molecular diagnostics are just some of the benefits that genomics can offer healthcare.

At this year’s Wired Health Conference, healthtech company Sophia Genetics announced that it is set to reach its strategic goal of analysing the genomic profiles of 100,000 patients using its artificial intelligence SOPHiA.

The system is currently being used in 250 healthcare institutions around the world to help analyse data produced by genome sequencing. These institutions pool their patients’ genomic data into a SaaS analytics platform powered by SOPHiA.

Global network

SOPHiA’s global network of users means that it is continuously developed to identify key variants in patients’ genomic profiles. Following this the system can then turn this information into actionable insights, potentially allowing clinicians to make better informed decisions.

More so, by using SOPHiA, hospitals with little experience in genomics can get up to speed and analyse genomic data to identify disease-causing variants and match them with the most effective drugs that can be used to treat patients.

Sophia Genetics’ latest approach to analysing patients’ genomic profiles is an example of the growing genomics market which is expected to reach¹ almost $20 billion by 2020 at a CAGR of 9.9%.

Reducing costs

Analysing genomics data has previously been a costly and lengthy process. According to the National Human Genome Research Institute² (NIH) the cost of generating a DNA sequence in 2001 was almost $100 million. Due to advancements in next-generation sequencing (NGS) costs have fallen dramatically. In 2015, the costs of generating a sequence was estimated at just over $1,000, now healthcare companies are striving towards the $100 genome.

‘Bringing down this barrier’ as SOPHiA Genetics’ CEO Jurgi Camblong stated, “Will allow hospitals worldwide to embrace the clinical genomics revolution, to the ultimate benefits of patients.”

Personalised genomics

The strive towards personalised genomic medicine would not be possible without access to large quantities of data. Sophia Genetics’ milestone of 100,000 patients’ genome sequences analysed is evident of how data can be used to the betterment of healthcare across the world.

Indeed, access to information produced by gene sequencing technologies is vital for researchers and clinicians to understand disease and genetic variations in the human population.³ The adoption of Sophia Genetics’ technology across the world is just one example of how information needs to be easily accessible in order for hospitals to treat patients with the most effective drugs.

For drug manufacturers this means working towards a growing demand for personalised medicine, the market of which is predicted to be worth $149 billion by 2020.⁴ To do this pharmaceutical companies are having to move beyond the one-size-fits-all approach that has currently been the standard in drug manufacturing. Deloitte’s 2015 Life Sciences Supply Chain Benchmarking Survey⁵ confirmed the industry’s thoughts on a more personalised approach. When asked about what was expected out of the industry in the next 10 years, the majority of respondents (33%) said they expect supply chains to become far more segmented and specialised according to product.

For instance, the NCI-MATCH clinical trial in the US is one example of matching patients to existing drugs for the best effect. The trial is using genetic markers from cancer patients’ tumours to assign them to different treatments. NCI-MATCH is aiming to assess the effectiveness of different treatments according to patients’ genetic abnormalities. The trial opened for enrollment in 2015 and is estimated to be completed by 2022.

Speaking on the potential that the trial offers, Doug Lowy, NCI acting director said, “NCI-MATCH is a unique, ground-breaking trial. It is the first study in oncology that incorporates all of the tenets of precision medicine. There are no other cancer clinical trials of this size and scope that truly bring the promise of targeted treatment to patients whose cancers have specific genetic abnormalities. It holds the potential to transform cancer care.”

Raising funds

Over in the UK, Cambridge startup, Repositive, recently closed a £2.5 million Series A funding round bringing the total raised by the genomic research portal to £3.3 million.

Repositive’s goal is to speed up genetic diagnostics and research by improving access to available data around the world. The start-up’s online platform unites datasets from across the world in an easy-to-use portal. Researchers can search the portal for relevant data to help speed up their research.

The Repositive platform launched in 2016 and has since amassed over 1 million data sets which is continuing to grow. The company has also partnered with healthcare giants such as AstraZeneca, Merck Group and Horizon Discovery to develop a collaborative resource for oncology research data.

Both Repositive and Sophia Genetics realise that without widespread access to data, goals such as personalised medicine and better informed decision by clinicians are unlikely to be realised in an efficient manner.

These trials are promising examples of precision medicine being thought of as an attainable goal. While cuts to the National Institute of Health (NIH) in the US shine an uncertain light on precision medicine initiatives, the importance of it cannot be understated.

Important initiatives

Take Africa for example where a drug used to treat HIV caused horrible side-effects for those with certain genetics in Zimbabwe.

In 2015⁶ the country issued a single-pill therapy for HIV called efavirenz. The drug was cheaper and easier than the previous three-drug cocktail used but it brought about a new set of problems. A gene variant found in many Zimbabweans slows their ability to break down efavirenz, causing side-effects such as hallucinations, depression and suicidal tendencies.

The argument for precision medicine can be strongly made for populations where genetic variants make treatments ineffective or harmful. Realising this are researchers from the National Human Genome Research Institute (NHGRI)7 who examined genomic data in relation to the likelihood of obesity in African populations.

The researchers found that people with genomic differences in the semaphorin-4D gene were around six pounds heavier than those without the genomic variant. The research was the first of its kind to be conducted on an African population and highlights the importance of understanding genetic differences across global populations. For instance, the semaphorin-4D genomic variant is absent in European and Asian populations, meaning people of African ancestry have an increased risk of obesity.

Advancing precision

Advancements in genomics have the potential to transform the way medicine is delivered to populations around the world. A move towards precision medicine is necessary if patients are to benefit from more effective drugs.

Sophia Genetics understands that without global access to genomic data, researchers won’t be able to quickly and efficiently gain useable insights into the molecular causes behind diseases. The company’s AI platform has recently been deployed by hospitals in Africa. This achievement is evident of the company’s goal to democratise data-driven medicine and is one more benefit to healthcare across the world. A lot of progress has been made since the completion of the Human Genome Project and the work displayed in this article shows that precision medicine is an achievable reality.

References

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