Most people are carriers for at least one genetic condition, meaning that any individual might need the help of a genetic counsellor a few times throughout their lifetime.
Last month, UK-based Sano Genetics launched Light the Way, an online support platform offering genetic testing and counselling for people suffering from motor neurone disease (MND) or with a family history of the condition.
As the demand for genetic testing and counselling booms, new approaches such as AI are being utilised to address the shortage of genetic counsellors.
Digital genetics company Igentify’s digital genetic assistant (DGA) uses AI to power genetic counselling. It develops personalised multimedia content to explain genetic test results and consent processes to patients digitally. The platform – which integrates with labs and healthcare providers – automates parts of the counselling workflow, from scheduling tests to automatically generating reports.
Co-founder and CEO Dr Doron Behar says Igentify’s platform can address the growing demand for clinical genetic testing: “The demand for clinical genetic testing is skyrocketing. In today’s market, we have over 27 million annual clinical genetic tests that are being done globally. But for all of these, we have only 7000 genetic counsellors available worldwide.”
Behar explained that many people would prefer an automated video instead of a face-to-face appointment, due to waiting lists, and healthcare providers having a limited time for each patient. This is supported by data from Igentify’s expanded carrier screen (ECS) study (NCT04248504).
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By GlobalDataThe ECS study evaluated the DGA in 225 couples undergoing ECS via the Thermo Fisher Scientific CarrierScan. Results demonstrated that the system saved traditional face-to-face or telephonic counselling in 73% of couples who were not carriers of a mutation in the same gene. Out of these, only 5.4% requested face-to-face counselling. In addition, patient survey responses showed that 90% of patients preferred digital results.
The AI genetic consultancy raised $10.5m in a 2019 funding round led by life sciences venture fund aMoon and crowdfunding platform OurCrowd. Founded in 2016, Igentify has partnered with companies such as Illumina and Thermo Fisher Scientific for its DGA.
AI is expected to drive the next industrial revolution, according to a report on GlobalData’s Medical Intelligence Center. Analysts estimate the total AI market will be worth $1tn by 2030, up from $103bn in 2023.
“You simply don’t have enough personnel to explain about the booming of knowledge in medicine to follow up on patients and so forth. We are here to pioneer and be part of this revolution,” concluded Behar.