Advances in long-read sequencing and precision diagnostics are reshaping what laboratories can expect from their genomic workflows. As these technologies evolve, the need for integrated, high-performance tools has become increasingly clear – particularly for researchers working across reproductive health, oncology and emerging applications in long-read analysis.
To explore how one company is responding to these demands, Technology Networks spoke with Dr. Joanne Mason, chief scientific officer of Yourgene Health. She shared how the organization is expanding its technology portfolio, accelerating product innovation and positioning itself for the next phase of growth within the global genomics landscape.
Isabel Ely, PhD (IE):
Science Writer
Technology Networks
Isabel holds a BSc in exercise and sport science from the University of Exeter, a MRes in medicine and health and a PhD in medicine from the University of Nottingham. Her doctoral research explored the role of dietary protein and exercise in optimizing muscle health as we age.
For readers who may be less familiar, could you introduce Yourgene Health and share the company’s mission and core focus areas?
Chief Scientific Officer
Yourgene Health
Dr. Joanne Mason is the chief scientific officer at Yourgene Health, leading the development of next-generation molecular diagnostics for more than three years. At Yourgene, we focus primarily on reproductive health and precision medicine, both of which are dynamic areas of growth in the diagnostics area.
Throughout her career, Jo has been a champion of modernising diagnostics with the use of genomic technologies. Prior to Yourgene, Joanne held positions as VP Biodiscovery with Cambridge Epigenetix (now Biomodal), where she led the development of clinical epigenomic technologies, specifically in early cancer detection. Jo was also the Director of Sequencing and Sample Acquisition for Genomics England, where she 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.
Joanne often acts as an advisor and mentor for start-ups, helping to develop their business plans and secure funding and she has previously acted as an advisor on the Department of Health (DOH) Rare Disease Policy Board, Medicines & Healthcare products Regulatory Agency (MHRA) Genomics for Diagnosis Forum and UK National External Quality Assessment Service (NEQAS) – Genomics England Steering Committee, Genomics England Sequencing Advisory Board and BIA Genomics Advisory Committee.
Dr. Joanne Mason holds a PhD in molecular and cellular biology from the University of Cambridge.
Yourgene is a global molecular diagnostics business. We have a range of clinical assays, workflows and instrumentation, predominantly in the field of reproductive health and precision medicine. Our mission is to enable scientific advances to positively impact human health. Yourgene Health is part of the Novacyt Group of companies and our sister company, Primerdesign is a leader in qPCR assays for infectious disease research.
Science Writer
Technology Networks
Isabel holds a BSc in exercise and sport science from the University of Exeter, a MRes in medicine and health and a PhD in medicine from the University of Nottingham. Her doctoral research explored the role of dietary protein and exercise in optimizing muscle health as we age.
Yourgene Health has experienced several exciting developments recently, including the launch of LightBench® Discover. Could you tell us more about these updates and their significance for the company’s strategic direction?
Chief Scientific Officer
Yourgene Health
Dr. Joanne Mason is the chief scientific officer at Yourgene Health, leading the development of next-generation molecular diagnostics for more than three years. At Yourgene, we focus primarily on reproductive health and precision medicine, both of which are dynamic areas of growth in the diagnostics area.
Throughout her career, Jo has been a champion of modernising diagnostics with the use of genomic technologies. Prior to Yourgene, Joanne held positions as VP Biodiscovery with Cambridge Epigenetix (now Biomodal), where she led the development of clinical epigenomic technologies, specifically in early cancer detection. Jo was also the Director of Sequencing and Sample Acquisition for Genomics England, where she 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.
Joanne often acts as an advisor and mentor for start-ups, helping to develop their business plans and secure funding and she has previously acted as an advisor on the Department of Health (DOH) Rare Disease Policy Board, Medicines & Healthcare products Regulatory Agency (MHRA) Genomics for Diagnosis Forum and UK National External Quality Assessment Service (NEQAS) – Genomics England Steering Committee, Genomics England Sequencing Advisory Board and BIA Genomics Advisory Committee.
Dr. Joanne Mason holds a PhD in molecular and cellular biology from the University of Cambridge.
LightBench Discover was launched in July 2025. It is a high-precision 3-in-1 instrument for genomic research labs conducting long-read sequencing.
The concept for the LightBench Discover was developed following a close collaboration with PacBio®, where Yourgene Health became a PacBio Compatible Partner for the original LightBench in November 2023. As part of the product development for LightBench Discover, Yourgene Health deployed prototype instruments into the field to gather customer feedback on user experience, develop protocols and run real-world samples to assess the instruments’ performance.
The integrated single benchtop solution replaces the need for multiple instruments in labs conducting long-read HiFi sequencing, which need both large fragment analytics (larger than 20 kilobases) and DNA size selection. In addition, LightBench Discover also delivers fluorometric quantification. Researchers benefit from a cost-effective, high-performance system that enhances efficiency, whilst eliminating the need to invest in multiple instruments with separate service contracts and software platforms. The product has extended capabilities (compared to the original LightBench) for large fragment analytics up to 150 kilobases, along with size selection (powered by Ranger® Technology) and quantification functions, making it ideal for research applications utilising long-read sequencing on the PacBio Revio® or Vega™ systems.
This launch closely aligns with the company’s strategic direction of making advances in expanding our product portfolio to closely meet researchers needs. We have other instruments in the Ranger Technology portfolio, and we are committed to investing and growing this range to ensure we can bring this critical technology to many customer segments, applications and use cases.
Science Writer
Technology Networks
Isabel holds a BSc in exercise and sport science from the University of Exeter, a MRes in medicine and health and a PhD in medicine from the University of Nottingham. Her doctoral research explored the role of dietary protein and exercise in optimizing muscle health as we age.
How does LightBench Discover fit into existing laboratory workflows? Was it developed with modular flexibility in mind, or is it intended to function as a complete end-to-end solution?
Chief Scientific Officer
Yourgene Health
Dr. Joanne Mason is the chief scientific officer at Yourgene Health, leading the development of next-generation molecular diagnostics for more than three years. At Yourgene, we focus primarily on reproductive health and precision medicine, both of which are dynamic areas of growth in the diagnostics area.
Throughout her career, Jo has been a champion of modernising diagnostics with the use of genomic technologies. Prior to Yourgene, Joanne held positions as VP Biodiscovery with Cambridge Epigenetix (now Biomodal), where she led the development of clinical epigenomic technologies, specifically in early cancer detection. Jo was also the Director of Sequencing and Sample Acquisition for Genomics England, where she 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.
Joanne often acts as an advisor and mentor for start-ups, helping to develop their business plans and secure funding and she has previously acted as an advisor on the Department of Health (DOH) Rare Disease Policy Board, Medicines & Healthcare products Regulatory Agency (MHRA) Genomics for Diagnosis Forum and UK National External Quality Assessment Service (NEQAS) – Genomics England Steering Committee, Genomics England Sequencing Advisory Board and BIA Genomics Advisory Committee.
Dr. Joanne Mason holds a PhD in molecular and cellular biology from the University of Cambridge.
The LightBench Discover fits into existing long-read sequencing workflows for PacBio customers. The 3-in-1 technology provides cost efficiencies, enhances quality control, simplifies workflows and delivers high-accuracy analytics which have all been designed around researchers’ needs. It is not an end-to-end solution but it does have a capability to replace other single-use platforms in the workflow.
Science Writer
Technology Networks
Isabel holds a BSc in exercise and sport science from the University of Exeter, a MRes in medicine and health and a PhD in medicine from the University of Nottingham. Her doctoral research explored the role of dietary protein and exercise in optimizing muscle health as we age.
Yourgene Health has a strong foundation in reproductive health. How is LightBench Discover being applied to non-invasive prenatal testing (NIPT), and what impact is it having on improving clinical decision-making?
Chief Scientific Officer
Yourgene Health
Dr. Joanne Mason is the chief scientific officer at Yourgene Health, leading the development of next-generation molecular diagnostics for more than three years. At Yourgene, we focus primarily on reproductive health and precision medicine, both of which are dynamic areas of growth in the diagnostics area.
Throughout her career, Jo has been a champion of modernising diagnostics with the use of genomic technologies. Prior to Yourgene, Joanne held positions as VP Biodiscovery with Cambridge Epigenetix (now Biomodal), where she led the development of clinical epigenomic technologies, specifically in early cancer detection. Jo was also the Director of Sequencing and Sample Acquisition for Genomics England, where she 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.
Joanne often acts as an advisor and mentor for start-ups, helping to develop their business plans and secure funding and she has previously acted as an advisor on the Department of Health (DOH) Rare Disease Policy Board, Medicines & Healthcare products Regulatory Agency (MHRA) Genomics for Diagnosis Forum and UK National External Quality Assessment Service (NEQAS) – Genomics England Steering Committee, Genomics England Sequencing Advisory Board and BIA Genomics Advisory Committee.
Dr. Joanne Mason holds a PhD in molecular and cellular biology from the University of Cambridge.
The LightBench Discover is not for use in NIPT; however, our other instrument, the LightBench® Detect (also known as the QS250) – also powered by Ranger Technology – is embedded in our NIPT workflows.
By using the instrument to perform size selection prior to sequencing, it allows isolation and enrichment of the fetal fraction (FF%) from maternal blood. Enriching based on size allows us to increase FF% by at least two-fold. This can help overcome challenges of sample validity in NIPT investigations by salvaging FF% in samples that are too low to meet minimum input thresholds due to maternal DNA contamination. Eliminating failures due to low FF%, reduces the need for blood sample re-draws, meaning clinicians can get more results the first time around, thus improving clinical decision making.
This instrument has also been adopted by NIPT diagnostic lab providers for their NIPT workflows.
LightBench Detect has been shown to improve the efficacy of size selection as a means to extend storage of NIPT blood samples in EDTA vacutainers for up to eight hours. This is quite ground-breaking as it allows for a more flexible workflow and greater choice of blood collection tube for clinicians. It can enable savings on costly blood stabilization tubes and reduces unnecessary anxiety as a result of a delayed test result.
Science Writer
Technology Networks
Isabel holds a BSc in exercise and sport science from the University of Exeter, a MRes in medicine and health and a PhD in medicine from the University of Nottingham. Her doctoral research explored the role of dietary protein and exercise in optimizing muscle health as we age.
Yourgene recently achieved IVDR accreditation and launched new services such as IONA® Care+. How do these milestones reflect the company’s broader growth trajectory and ambitions within the genomics space?
Chief Scientific Officer
Yourgene Health
Dr. Joanne Mason is the chief scientific officer at Yourgene Health, leading the development of next-generation molecular diagnostics for more than three years. At Yourgene, we focus primarily on reproductive health and precision medicine, both of which are dynamic areas of growth in the diagnostics area.
Throughout her career, Jo has been a champion of modernising diagnostics with the use of genomic technologies. Prior to Yourgene, Joanne held positions as VP Biodiscovery with Cambridge Epigenetix (now Biomodal), where she led the development of clinical epigenomic technologies, specifically in early cancer detection. Jo was also the Director of Sequencing and Sample Acquisition for Genomics England, where she 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.
Joanne often acts as an advisor and mentor for start-ups, helping to develop their business plans and secure funding and she has previously acted as an advisor on the Department of Health (DOH) Rare Disease Policy Board, Medicines & Healthcare products Regulatory Agency (MHRA) Genomics for Diagnosis Forum and UK National External Quality Assessment Service (NEQAS) – Genomics England Steering Committee, Genomics England Sequencing Advisory Board and BIA Genomics Advisory Committee.
Dr. Joanne Mason holds a PhD in molecular and cellular biology from the University of Cambridge.
IVDR is so important for our clinical in vitro diagnostic tests, which is why we are committed to taking products through the IVDR process. We have already demonstrated this with our first three assays (DPYD Genotyping, Cystic Fibrosis Base and QST*R Base), achieving IVDR accreditation and we are continuing to work on the remaining portfolio.
Our corporate growth strategy shows that we are dedicated to growing the business organically via our New Product Introduction process. With a focus on three pillars, we have shown a few examples of where we have delivered:
- Reproductive Health: We expanded our NIPT service aimed at healthcare professionals with the launch of IONA Care+ expanded clinical menu.
- Precision Medicine: Our DPYD Genotyping Assay includes a range of variants to screen before prescribing 5FU chemotherapy to cancer patients to help prevent chemo-toxic reactions.
- Instrumentation: LightBench Discover was launched earlier this year, as we have already discussed.
Science Writer
Technology Networks
Isabel holds a BSc in exercise and sport science from the University of Exeter, a MRes in medicine and health and a PhD in medicine from the University of Nottingham. Her doctoral research explored the role of dietary protein and exercise in optimizing muscle health as we age.
Looking ahead, how do you envision Yourgene’s role evolving within the global genomics ecosystem over the next five years?
Chief Scientific Officer
Yourgene Health
Dr. Joanne Mason is the chief scientific officer at Yourgene Health, leading the development of next-generation molecular diagnostics for more than three years. At Yourgene, we focus primarily on reproductive health and precision medicine, both of which are dynamic areas of growth in the diagnostics area.
Throughout her career, Jo has been a champion of modernising diagnostics with the use of genomic technologies. Prior to Yourgene, Joanne held positions as VP Biodiscovery with Cambridge Epigenetix (now Biomodal), where she led the development of clinical epigenomic technologies, specifically in early cancer detection. Jo was also the Director of Sequencing and Sample Acquisition for Genomics England, where she 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.
Joanne often acts as an advisor and mentor for start-ups, helping to develop their business plans and secure funding and she has previously acted as an advisor on the Department of Health (DOH) Rare Disease Policy Board, Medicines & Healthcare products Regulatory Agency (MHRA) Genomics for Diagnosis Forum and UK National External Quality Assessment Service (NEQAS) – Genomics England Steering Committee, Genomics England Sequencing Advisory Board and BIA Genomics Advisory Committee.
Dr. Joanne Mason holds a PhD in molecular and cellular biology from the University of Cambridge.
Over the next five years, we want to ensure our tests are cost-effective, relevant and meet a clinical need. We aim to broaden access and make the clinical IVD tests that we have more inclusive of a wider population and ethnicity. For example, we are looking at expanding some of our assays to include unique variants for a particular population or rarer variants to improve diagnosis.
In general, we are very excited about our expanding precision medicine portfolio. It’s so important that we enable clinicians to give the right people the right drugs for the best possible patient outcomes. Not all testing needs to be done on a genome basis, but our tests can be really cost-effective, easily adopted in a lab and give a fast and accurate result to ensure the right decisions are made by clinicians about their patients' care and treatment.
