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Rare Diseases February 2019

Pioneering service to expand genetic testing


Gemma Chandratillake

Education and training lead at the east of England Genomic Medicine Centre and Trustee, Cambridge Rare Disease Network

A ground-breaking new service is poised to transform diagnosis and care for people living with genetic rare diseases in England.

The NHS Genomic Medicine Service, which was announced last September, will provide healthcare professionals with a directory of available genetic tests in a bid to speed up diagnosis and deliver more personalised medicine.

Patients will also be offered the opportunity to participate in a national programme of data collection and research that could inform future treatments and care pathways.

Gemma Chandratillake, Trustee of Cambridge Rare Disease Network, said access to this new technology currently varied across the country, and that this was compounded by a general lack of knowledge around genetic testing and rare diseases.

Cutting the diagnostic odyssey short

“Because there is a lack of awareness of rare diseases, patients can spend a long time being passed from doctor to doctor before they get a diagnosis.

“People call it the diagnostic odyssey – the continuous frustration of going from medical appointment to medical appointment, but never really knowing what’s going on.”

The new service hopes to change all that. Doctors will be able to look up a patient’s symptoms, and the directory will tell them which tests are needed. These will then be carried out at one of seven new genetic testing “hubs” across the country.

“We hope it will speed up diagnosis, because without a diagnosis it is difficult to let people know what to expect and also what the chance is for other children in the family to be affected. Diagnosis unlocks things people need like education and support,” said Chandratillake.

100,000 Genome Project looked at DNA of 85,000 people

The service has been made possible by the 100,000 Genome Project, which sequenced the DNA of more than 85,000 people. This huge database of genetic information will now be expanded thanks to the option to participate in research made possible through the new genomic medicine service.

The possibilities are transformative, said Chandratillake, who is currently educating healthcare professionals on the new system in her role as Education and Training Lead at the East of England NHS Genomic Medicine Centre.

“By putting huge numbers of people together, you could identify genes that cause conditions no one even knew about before,” she said, adding that the small number of people living with any one rare disease often made it difficult to conduct meaningful clinical trials.

“In the future, researchers who want to do a clinical trial will be able to apply to access a ready-assembled cohort of participants.”

And as the service gathers more information on how genetic rare diseases affect people over time, it will inform standards of care.

The project will help families affected by rare diseases

“In many cases, we don’t know the full range of a condition or what life looks like for families going forward. But this data will offer a better idea of the things to look out for, and how they can affect the patient journey.”

Ultimately, the service will help the NHS deliver quality care to the one in 17 people who lives with a rare disease, she concluded.

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