Precision medicine: exploring the impact of DNA Testing

The potential of precision medicine requires a small shift in perspective, Patrick Short, CEO and co-founder of Sano Genetics, explains in this Q&A.

Personalised genomic medicine

Precision medicine, with its focus on personalised treatments tailored to an individual’s genetic makeup, has seen remarkable progress in recent years. Clinical trials are now underway for various genetic subtypes of both rare and common diseases, on the understanding that medications utilising genetic biomarkers have a significantly higher chance of success. However, the successful implementation of precision medicine requires sufficient genetic data and willing participants to contribute that data. Engaging patient groups and recruiting participants for preclinical research studies remains a major challenge, as the necessary infrastructure for matchmaking and follow-up is still in its early stages.

In this interview Patrick Short, CEO and co-founder of Sano Genetics, sheds light on the key challenges faced during preclinical research, particularly in terms of data collection and participant recruitment. Read his thoughts about how we might overcome these challenges in finding and engaging participants effectively.

What preclinical research methods are commonly employed in precision medicine, and how do they contribute to the development of personalised treatments?

Advancements are being made in personalised medicine almost weekly. There are clinical trials underway for genetic subtypes of rare and common diseases. And that’s critical, because we know that medicines that use genetic biomarkers are two to three times more likely to succeed. However, to be able to run those clinical trials, you need genetic data and you need participants to provide that data. 

Advancements are being made in personalised medicine almost weekly. There are clinical trials underway for genetic subtypes of rare and common diseases.

Still a big problem with today’s preclinical research methods is engaging patient groups and recruiting people to take part. The infrastructure for this is only just being built; there is no blueprint for matchmaking participants to relevant studies, or for following up at a later date for studies and trials. It’s a learning process for everyone involved.

What are some of the key challenges faced during preclinical research in precision medicine, particularly in terms of data collection and participant recruitment?

When genetic datasets are too small or not representative of populations, it’s far more difficult for precision medicine researchers to do their jobs.

Part of the problem is that only a fraction of the population, as little as 1-2 percent, has been DNA tested in a healthcare setting (though more have used at-home direct-to-consumer genetic testing kits). And precision medicine studies suffer from challenges common to all clinical trials, such as poor enrolment and retention rates. An analysis of all terminated trials within the Clinical Trials Database by GlobalData in 2018 found the single highest reason for trial termination – at 55 percent of total trials – was a low enrolment rate. Around half of clinical trials are delayed due to recruitment issues, and some struggle to find any to begin the trial at all. A further 85 percent fail to continue as they cannot retain enough participants, according to Forte research.

Doctors and other healthcare professionals have very little time to devote to signposting patients to research, so we have to explore other ways to find participants and, crucially, keep them engaged. Anyone who has taken part in a clinical research study will know that the experience is lacklustre and underwhelming and you’ll likely never know the impact your contribution has had on research. That needs to change.

Reassuring participants that they will retain full control over their genetic data is also crucial, making it much more likely they will agree to be recontacted in the future for further research.

How does your team navigate these challenges to help ensure the successful implementation and advancement of personalised treatments and therapies?

Firstly, we help to make it easier for researchers to get access to genetic data that already exists, by partnering with biobanks and patient groups. We also permit people who have taken consumer DNA tests, such as with Ancestry or 23andMe, to upload their results onto our site.

Secondly, we make it easier for people to have genetic testing done in the first place, by sending them free at-home DNA testing kits that take just minutes to complete. Once the results are returned to the lab by post and registered, people are kept informed about relevant research and given the opportunity to opt in. This helps to build a wide pool of data that researchers can draw on, thus speeding up the process of getting life-saving precision medicines to market.

How does Sano ensure participant privacy and data security when individuals participate in preclinical research studies using their at-home DNA tests?

Privacy and data security are vital considerations and transparency sits at the heart of what we do. People have a right to know exactly how their data will be used from the moment their results are delivered back to the lab, so we let them know – clearly and in simple, jargon-free language – and never share someone’s data without their permission. Participants also have the power to delete their data at any time. And from a technological point of view, we use industry standard encryption mechanisms when dealing with people’s data.

Could you provide insights into the process of developing the at-home DNA tests used by Sano? What factors were considered in designing these tests to ensure accuracy and ease of use for participants?

We use FDA-approved and CE-marked DNA collection devices that have been proved and tested as the gold standard in saliva-based DNA collection devices and are widely used by pharmaceutical companies and research institutions worldwide. The technology keeps DNA stable for several months, though our logistics usually supports a 48-hour return process with pre-paid labels. We partner with world-class labs with CLIA/CAP certifications in the US and ISO certifications in the EU to provide a wide array of sequencing assays to support bespoke studies internationally within the required regulatory framework.

From Sano’s perspective, how do you envision the role of DNA tests in shaping the future of precision medicine? What potential advancements or breakthroughs do you anticipate as the field of precision medicine continues to leverage DNA testing technologies?

There are many ongoing projects that are sequencing people’s DNA, from Our Future Health, which aims to recruit five million people in the UK, to smaller scale schemes like Born in Bradford. Many of these projects are building on the ability to recontact by genotype into their infrastructure, from day one.

It’s really exciting to see these developments and the potential benefit is enormous: not only that we will be able to discover personalised treatments and cures for diseases, but detect, intervene and prevent them from developing in the first place. 

Author Bio:

Dr Patrick Short 


Patrick is the CEO and co-founder of Sano Genetics, a company accelerating precision medicine research into chronic and rare genetic diseases. 

Patrick has a PhD in mathematical genomics and medicine from the Wellcome Sanger Institute at the University of Cambridge where he focused on large-scale genome sequencing projects and rare disorders. He launched Sano Genetics in 2017, along with fellow postgraduate genomics students Charlotte Guzzo and Will Jones. To date, the company has raised $14.9 million in investor capital and received several innovation grants.