The power of genomics at GOSH

Genomic testing for rare and inherited disease began at GOSH in 1985, with around 700 samples being processed that year. Over the subsequent decades’ advances in genomic technologies, increasing clinical adoption and the establishment of the NHS Genomic Medicine Service have transformed the scale and scope of activity undertaken by the laboratory.

During 2025/26 the GOSH Genomics Laboratory produced around 40,000 genomic reports for patients and families around the country. Our laboratory is also one of only two NHS laboratories that delivers highly specialised prenatal genomic testing services, including Non-Invasive Prenatal Diagnosis (NIPD) and Foetal Exome Sequencing.

GOSH also hosts the North East Thames Regional Clinical Genetics Service. The service serves a population of approximately 4.5 million people across North East London and Essex, whilst also supporting several specialist referral pathways extending beyond its immediate geographical catchment.

At GOSH, we deliver clinically-driven, fully accredited genomic testing at scale. Available for international partners, our testing services operate within the governance and quality standards of the NHS, meaning that partners and patients can be confident that every test is safe, robust and actionable. This scale and expertise underpins resilience, rapid turnaround and the ability to adopt cutting edge technologies quickly and safely.

We have extensive scientific expertise, advanced laboratory infrastructure, and seamless integration between research and clinical care.

Shaping the future of genomics

We work with industry, academic and clinical partners to develop and deliver next-generation genomic technologies. These collaborations help bring innovations from research into real-world clinical use, ensuring patients benefit sooner.

Lyn Chitty ultrasound scan

Prenatal genomic testing

GOSH is a global leader in prenatal genomics, pioneering safer ways to diagnose genetic conditions before birth.

Today, we continue to expand testing to support more families, enabling earlier diagnosis, informed decision-making and improved planning and support.

Researcher in lab

Rare and inherited diseases

As a national hub for rare and inherited disease genomics, GOSH provides one of the UK’s broadest testing portfolios.

We use advanced genomic technologies, including whole genome sequencing, to identify underlying causes of conditions, guide clinical management and support families with clearer answers.

Kidney tumour under a microscope

Cancer genomics

Through our partnerships, children and young people benefit from leading expertise in cancer genomics.

From tumour profiling to emerging technologies such as liquid biopsy, genomic testing supports more accurate diagnosis, targeted therapies and personalised treatment pathways.

Genomic testing for your private patients

We work closely with referring clinicians to ensure the right genomic test is used at the right time - supporting better outcomes and reducing unnecessary delays.

We offer:

  • Access to HCPC-registered clinical scientists
  • Participation in multidisciplinary team meetings (MDTs)
  • Specialist forums such as molecular tumour boards
  • Clear, clinically actionable reports