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Diagnostics Biochemistry and molecular biology, Profession

You, Me, and Molecular P

With our knowledge and understanding of the molecular world growing ever deeper, there has never been a greater pull towards molecular diagnostics. In light of this, we spoke with Joanne Mason to explore next-generation diagnostics in reproductive health and precision medicine.

Could you tell us about your career to date?

Throughout my career I have been a champion of diagnostic modernization through genomic technologies. Prior to Yourgene, I held positions as VP Biodiscovery with Cambridge Epigenetix (now biomodal), where I led the development of clinical epigenomic technologies, specifically in early cancer detection. I was also the Director of Sequencing and Sample Acquisition for Genomics England, where I managed the delivery of samples and whole genome sequencing for the 100,000 Genomes Project – the first demonstration that genome sequencing at scale within a healthcare setting can positively impact health outcomes for rare disease and cancer patients.

I often act as an advisor and mentor for start-ups, helping develop their business plans and secure funding. And I have previously acted as an advisor on: the Department of Health’s Rare Disease Policy Board; the Medicines & Healthcare products Regulatory Agency’s Genomics for Diagnosis Forum; and the UK National External Quality Assessment Service’s Genomics England Steering Committee.

I also hold a PhD in Molecular and Cellular Biology from the University of Cambridge.

What is the goal of Yourgene Health?

To be a trusted provider of molecular diagnostics, facilitated through our technical expertise, innovation, and our global partnerships. Our mission is to enable scientific advances to positively impact human health. Today, we focus on reproductive health and precision medicine.

How did you get involved in the specialty of molecular diagnostics in reproductive health?

Yourgene, in its earliest form, was established in 2013. Its sole aim was to build a regulated kitted product that a lab could use to perform non-invasive prenatal testing (NIPT) – a next-generation sequencing-based workflow. Our Founder, Stephen Little, spotted a gap in the market: NIPT had emerged in the US and China the year before, but all testing was done centrally in superlabs, with long turnaround times of 14 days for a result. When Yourgene launched that very first CE-IVD product for NIPT, it provided a big change in prenatal screening. Labs were able to set up their own NIPT service locally, helping to reduce waiting times for anxious expectant parents down to numbers as low as three days.

Based on our experiences with NIPT, we started to offer a broader range of screening and diagnostic tests across the reproductive lifecycle, including newborn and carrier screening for cystic fibrosis, assays for pregnancy loss, male factor infertility, and aneuploidy analysis. 

We are now also working in the field of precision medicine, applying our technologies and expertise to this cutting-edge application that is helping make a significant impact on patients’ health. 

Why has the demand for molecular diagnostics never been higher?

I would be more specific and say that demand is higher than ever for molecular diagnostics that offer fast, accurate, and actionable clinical results for patients. 

More broadly, huge advances in technologies and testing have allowed for earlier diagnosis of disease, especially in cancer, which enables improved patient outcomes. There is a big focus on oncology, particularly within the NHS in the UK, which has shown improved methods of early screening and monitoring for disease progression or recurrence.

Molecular diagnostics for precision medicine, a field called pharmacogenomics, which enables the right drug for the right patient is now making a real difference in clinical practice – not only in the emergence of companion diagnostic tests, such as EGFR tests for lung cancer drugs like gefitinib (Iressa), but also in the routine testing of variants in the DPYD gene to prevent chemotoxic reactions to 5-FU chemotherapy. These can be simple, cheap tests that give results in four hours, while saving lives by preventing toxic reactions to medicines. 

How would you describe the current molecular diagnostics landscape?

Molecular diagnostics is one of the fastest growing markets – it is an ever-evolving landscape where new medically relevant discoveries are made constantly. There are challenges around the regulatory landscape with laboratory-developed tests and in vitro diagnostic products, but it is a highly competitive market. 

It is also a very attractive market to be in, delivering real medical value to multiple stakeholders: doctors, patients, healthcare systems, payors, and hospitals. Reimbursement is a key factor in different markets where tests are covered by public health systems, such as the NHS in the UK, or health insurance in the private payor market. 

Since the emergence of COVID-19 testing during the pandemic, the patient understands more about the different testing options. Generally, the general public has high expectations and patients are more informed and aware.

How are you adopting digital technologies?

Molecular diagnostics offers a digital transformation to traditional pathology by adding molecular content to a pathologist’s toolkit. These improvements allow us to give the best diagnosis and ensure the most appropriate treatment paths for patients. 

The use of AI and bioinformatics for the automated interpretation of screening test results with clinical recommendations has shown significant advantages for labs. Applying these technologies helps identify new markers and refine algorithms, providing in-house specialists with an enhanced toolkit for the interpretation of complex sequencing or genetic results. The ability to use digital tech to provide labs with an end-to-end solution to not only run but interpret these test results and make clinical decisions on the basis of the data is a huge advance for laboratory and genetic medicine.

What is the future for molecular diagnostics?

Traditionally, molecular diagnostics has been used in life science research, infectious disease testing, and cancer diagnostics. But the molecular diagnostic market is expanding into new areas, such as companion diagnostics, liquid biopsy, direct-to-consumer, and more. The future of molecular diagnostics shows a path toward personalized healthcare, precision medicine, and predictive healthcare.

Advances in technology developments and the speed of adoption is growing at an unprecedented rate. It won’t be one single thing, but a mixture of different advances, here are some that I think will have a major impact on the future of molecular diagnostics:

  • Larger panels, exomes, and even genomes for more complex diseases and cases that are difficult to diagnose
  • Earlier testing. More-sensitive assays that can find disease in its earliest form, enabling faster treatments and improved patient outcomes
  • More democratized testing. Less of a central lab approach and more routine molecular testing locally, enabling faster results
  • More accessible tests. We may see an increase in patients researching online and demanding the highest quality assays
  • Further advances in genetic diversity. There are big initiatives to have globally inclusive populations to make tests more accurate for everyone
  • Improvements in sample type. More non-invasive tests and less solid sample/tumor sampling that is dangerous and hard to acquire from patients. Liquid biopsy is taking us one step closer to transform diagnosis, prognosis, and the future of cancer treatments
  • Increased use of machine learning and AI in testing and test development 
  • Multimodal tests that integrate DNA, RNA, epigenetics, and proteomics to give us a more complete understanding of disease.

Is there any particular type of testing or technology that you are particularly excited about?

The increasing use of long-read sequencing in discovery and research gives us access to areas and features of the genome that were difficult to access with shorter reads. 

Epigenetics is also vital in helping us identify disease earlier. Indeed, epigenetics has already shown its potential utility in oncology screening assays, enabling the earlier detection of the cancer through liquid biopsy. The etiology of cancer is highly complex, involving both environmental and hereditary influences. The ability to target epigenetic regulators provides a wider resource of potential therapeutic options for this disease and others too.

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About the Author
George Francis Lee

Deputy Editor, The Pathologist

Interested in how disease interacts with our world. Writing stories covering subjects like politics, society, and climate change.

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