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UK-based SME with innovative genetic carrier screen offering the technology to end users for testing and feedback

Country of Origin: United Kingdom
Reference Number: TOUK20190701002
Publication Date: 1 July 2019

Summary

A UK-based SME has developed an innovative genetic screening technology, in collaboration with an academic partner, testing for 5000 genetic diseases in carriers enabling couples to take informed action when planning a pregnancy. The SME is looking for clinical partners, such as Genetic or IVF clinics, who want to offer the technology to their patients. It is expected that the partnership will be in the form of a commercial agreement with technical assistance or a technical cooperation agreement

Description

Every year many couples are confronted with the unexpected birth of a sick child due to a genetic disease. Genetic disorders can vary in severity - while some, such as cystic fibrosis, are relatively common and well-recognised, others are rare and confined to a handful of families worldwide. Nevertheless, they can be  severely debilitating and costly. 

Genetic testing is currently available to a couple for a very limited number of genetic conditions and often this is not offered until after the birth of a sick child.

A UK-based SME has developed a novel carrier screening technology based on whole exome sequencing. This technology enables couples to be tested for all known (>5000) genetic conditions when planning a pregnancy. Therefore, the risk of having a child suffering from a genetic condition is largely eliminated.

The SME is looking for partners to help them pioneer the technology in their clinical practice. They would therefore like to partner with Genetic clinics, in vitro fertilisation (IVF) clinics, gynaecology and other related clinics who currently outsource genetic testing. The SME is particularly interested in clinical practices who deal with high-risk couples (e.g. previous family history of genetic disease, history of consanguinity, etc.) It is envisaged that the partnership would be in the form of a commercial agreement with technical assistance or a technical cooperation agreement.

Advantages and Innovations

The UK-based SME's genetic screening technology has the following advantages:

1. Will allow end users to offer a bespoke, pioneering technology to their customers
2. Is one of the most extensive carrier screens available on the market, screening for >5,000 known Mendelian syndromes.
3. Tailor-made PGD (Pre-implantation Genetic Diagnosis) can be designed for each couple based on the results of the test.
4. Bespoke prenatal diagnosis can be designed for each couple for every ensuing pregnancy.
5. The analytical algorithm has been co-developed with a bioinformatics department in a renowned academic institution in the UK

Stage Of Development

Available for demonstration

Stage Of Development Comment

The product is available for clinical use. UK accreditation is currently under progress.

Requested partner

The UK-based SME is looking to partner with genetic clinics, in vitro fertilisation clinics (IVF) and gynaecology clinics as well as other clinics that currently outsource genetic testing. The SME will offer their testing services to the partner and will expect the partner to provide feedback on performance to enable further development.

The SME is particularly interested in working with partners who deal with genetically high risk couples or couples from ethnic minorities.

It is envisaged that the partnership will take the form of a commercial agreement with technical assistance or a technical cooperation, dependent on partner circumstances.

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