The Disruptors: Congenica is cutting diagnosis waiting times

Founded after a ground-breaking medical research project, digital health start-up Congenica is on a mission to reduce diagnosis waiting times for patients with genetic disorders. Now an exclusive supplier for the UK's national genomic healthcare service, co-founder Dr Nick Lench tells us how they got here.

Please provide a short explanation of your business.

Congenica is a digital health company. We provide software and services for the interpretation of genomic data enabling clinicians to provide a diagnosis for patients with genetic disorders.

For patients and their families, having a diagnosis can help to ease the great emotional burden, allow access to support groups and care, and can eliminate the need for further tests.

What was the opportunity you identified that led to the launch of your business?

The Deciphering Developmental Disorders project was a ground-breaking research project led by the Wellcome Sanger Institute, analysing genomic data from nearly 14,000 children with developmental delay, as well as their parents.

The project pioneered the use of large scale computational analysis to diagnose genetic disorders within a national clinical genetics service. During the study, software was developed to enable the identification and interpretation of DNA sequence variants. This technology was licensed to Congenica and the company has successfully developed a commercial software product that is now the exclusive clinical decision support software for the UK National Genomic Medicine Service. The software is also used extensively by international customers and national genome programmes.

How did you use invention and innovation to disrupt the market?

Previously, genetic testing was performed on a single gene at a time. A genetic test would be undertaken based on the patient’s clinical presentation and best guess diagnosis — but this approach was costly, time-consuming and often wouldn’t result in a definitive diagnosis.

Now testing interrogates every gene in a single test, using whole genome sequencing. It’s transformed genetic testing by significantly increasing the chance of a successful diagnosis and within a reduced time.

What were the challenges you faced along the way and how did you learn from them?

We learned that everything takes longer and requires more resources than you think – so to build in contingency!

What has been your proudest moment so far?

Being appointed as the exclusive provider of clinical decision support software to the NHS’s Genomic Medicine Service, and transforming the lives of patients by providing an accurate and timely diagnosis.

If you were starting from the beginning again, what would you do differently?

I’d be even more ambitious!

What’s your advice to anyone launching a disruptive start-up?

Assemble an expert team with the drive, knowledge and experience to deliver. And wherever possible you should collaborate with experts and key opinion leaders and operate to the highest professional standards.

What are your plans for the future?

Developing our international customer base and becoming the world-leading clinical decision support software for inherited and de novo genetic diseases; to establish the company as a major player in oncology and somatic mutation identification and analysis.