Whole exome analysis is now in routine practice at Manchester. In one case it has helped clinicians to predict renal disease in a patient who presented with retinal disease, and the patient had a successful kidney transplant as a result.
Dr Ramsden says the cost of genetic testing has come down dramatically, resulting in a ten-fold increase in tests since 2012. This has generated a huge amount of data that needs to be analysed. “Instead of sequencing one gene in a patient, we are looking at gene panels of 170,” he explains.
“Sapientia has allowed us to scale our operation to accommodate this explosion in genomic analysis. It offers us an opportunity to collate the information, do the analysis, and then make decisions within a single piece of software. It makes the whole system far more efficient.”
He gives the example of a baby with congenital cataracts: “In the past a baby with neurological problems would first see a paediatrician, then a neurologist, and if there’s ophthalmic problems they’ll see the ophthalmologist. Now on day one we can look at a panel of genes that cause cataracts and not worry about all the other biochemical tests that take a long time and cost the NHS a lot of money. It has radically changed the experience for patients.”
It’s not only ophthalmology where Sapientia is proving its worth: the same technology is used for metabolic disease and cardiac disease.
Dr Ramsden says: “A lot of pathologies are progressive, so when they first appear they’re not typical. It may be difficult for a clinician to make an accurate diagnosis until it has progressed to the full-blown disease. Whole exome analysis allows us to make that diagnosis much earlier.”
Dr Ramsden explains that the Human Genome Project has created a valuable resource by providing various methods of analysing variants. “What Sapientia does is give us a format: it is a web-based tool where we can take our data, compare it to what’s out there in the world, and support the clinicians to come up with a diagnosis.
“We now find ourselves in a multidisciplinary team (MDT) sitting in a room with surgeons, geneticists and scientists. The technology does not presume a particular diagnosis so we look at the genetics and the clinician comes to us with a range of symptoms, then we piece together a diagnosis. Sapientia has dramatically changed the way we operate.”