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Read more...Rare diseases can be hard to diagnose because, as the name suggests, they're uncommon: while they may have specific symptoms, both doctors and patients may not know to even look out for them.
That is where a service like Ubie can be especially useful: the Tokyo-based company has developed an AI-based symptom tracking platform to help guide patients to their correct treatment option, as well as an AI-powered patient intake product that allows physicians to know what the problem is they're treating before they ever see the patient.
Among the diseases Ubie has created a Symptom Checker for are Cushing’s Disease (CD) and Cushing’s Syndrome (CS). CD is caused by a pituitary tumor that signals the adrenal glands to release too much of the hormone cortisol, while CS can be caused by numerous sources including a tumor in the adrenal gland or lung, certain steroid shots and medications, alcoholism, or severe depression.
In order to validate its Symptom Checker, and to make sure its AI tool can effectively screen for Cushing’s, the company announced a partnership with Cushing’s Support and Research Foundation (CSRF) on Monday in order to help guide undiagnosed patients to the right clinical care
Founded in 2017, Ubie's data and technology is based around over 50,000 peer-reviewed international publications and a real time Artificial Intelligence model, allowing the company to have disease and symptom coverage with over 1,100 medical conditions and 3,500 question data types in its Clinical Database.
The company's symptom checker asks patients around 20 questions about their symptoms to discover related diseases and provide more detailed actionable health information. Patients can detail their symptoms, such as headache, cough, or throat swelling, as well as their disease, such as migraine, or gastritis. They can also simply state which part of their body hurts, or what specialty they need.
The questionnaire takes a total of three minutes, after which Ubie's AI-powered system will generate a free report on possible causes, as well as when to see a doctor, what is causing those symptoms, treatment information, and a guide on how to access appropriate medical care.
"Ubie’s AI Symptom Checker is continuously updated to improve its disease prediction abilities. We’ve trained the algorithm on over 50,000 medical papers, but what separates Ubie from other disease prediction platforms is our belief that AI works better when partnered with humans," Kota Kubo, co-founder and co-CEO of Ubie, told VatorNews.
"We have multiple layers of human input. First, we have a panel of over 50 specialists that review the prediction pathway for each disease to ensure accuracy. Second, we are connected to more than 1,500 healthcare providers organizations, which creates a feedback loop that ensures our AI learns and adapts based on real world outcomes."
Additionally, Ubie recently launched its Checkup platform, which is designed to help patients once they reach a diagnosis. Checkup helps patients track and improve their conditions by recording key measurements, providing reminders for medications and doctor appointments, and helping patients communicate with their providers.
The platform allows patients to easily share updates and important health information with doctors to ensure their health and medication are being properly managed, and to flag any issues that may necessitate emergency care.
Cushing's disease
CS is the more common form of Cushing's, impacting about 40 to 50 per million per year in the US, while CD affects about 10 to 15 people per million in the US annually. While they affect less than 70 million people combined, both sources of the disease can cause complications such as high blood pressure, bone loss, weight gain, change in appearance, fatigue, anger, brain fog, and even type 2 diabetes.
Cushing’s also has one of the highest rates of depression for a medical disorder, with between 50 to 70% of cases and, if left untreated, it can be fatal.
"High cortisol alters your glucose metabolism, your whole system, and nothing's going right. You have a lot of Gi problems all the time, almost no matter what you put in. So, it just doesn't feel good at all. It hurts, it's uncomfortable, it feels very toxic, you've also got this very poundy high blood pressure thing happening, which just feels you're always nervous and tense," Leslie Edwin, President of CSRF, told VatorNews in an interview.
"You always just feel something's about to happen, you're angry all the time, you're real fast to rage. It's just endless, physically and mentally, all over, top to bottom, because you have cortisol receptors in every part of your body. So, it just hits you everywhere. Everything you are and have and look at is just altered."
CD is caused by a tumor, most commonly found on the pituitary gland, though it can also be found on the lung or the adrenal gland, which causes too production of ACTH, an adrenocorticotropic hormone that's created in the pituitary gland, which tells the adrenal glands to make cortisol.
Currently, there are three tests to check for elevated cortisol levels: a bedtime saliva test, a 24 hour urine test, and the dexamethasone suppression test, which measures whether cortisol secretion by the adrenal gland can be suppressed; together, these three tests have a 94% accuracy rate over time.
"If you've got a tumor on your pituitary, or tumor in your lung, it's making ACTH, so it's just flooding your system with ACTH. It's telling your adrenal glands, 'go crazy, make so much cortisol.' Then, sometimes, the ones in the adrenal glands actually produce cortisol themselves, so it says that ACTH isn't really needed. So, that's the way you can measure that," Edwin explained.
Diagnosing with AI
One of the biggest problems is that it can take anywhere from months to years for patients to get a diagnosis of Cushings as they test these cortisol levels; meanwhile, the patient has to deal with the physical and mental and emotional toll of the disease.
Thanks to Ubie's Symptom Checker, though, patients can be referred to a specialist much more quickly, just by filling out their questionnaire and telling it what their symptoms are.
"If a patient goes to a doctor they might find they have high blood pressure and maybe they're starting to have diabetes, so the doctor puts them on a diet and tells them to come back with a food diary, but that's not helpful," Edwin said.
"But, if a patient is able to enter more than just these super basic symptoms, meaning the things that are really weird, like if a patient can put in things like, ‘I'm gaining weight. I'm greasy, I can't sleep, I’m pissed off all the time,’ if it can hear what you're saying and it can learn, it can say, ‘I know when patients start asking these questions to ask them about these things, too.’ So, that's the future of helping people get diagnosed faster."
Given that Ubie’s AI reacts differently to every patient, depending on the symptoms they report, the company is able to fine tune it platform on a disease-specific level, Kubo explained. That lets the AI improve the way it presents potential symptoms, using language accepted by patient communities, and addressing the way specific symptoms present.
"In addition to this, we know that AI disease prediction and diagnosis has a great impact in rare diseases. So, we wanted to enhance our platform in rare diseases to help deliver better outcomes," he said.
"Similar to our work with providers, we knew that the best way to develop our platform would be to work with real world patients who could give us feedback and insights that would allow us to fine tune our AI to a specific disease."
Currently, the partnership between CSRF and Ubie involves helping craft the questions and the language around what they ask patients, so they can sure that the questions are accurate, and also not offensive. For example, since Ubie is a Japanese company, when translated to English a term came out as “round tummy” or “fat tummy” which CSRF immediately flagged as something that needed to be fixed.
"When Ubie approached us, they had a good beginning, but we saw a lot of things immediately we were like, ‘this needs to be worded differently, and you need these 30 additions.’ So, at first, it was trying to figure out how exactly we could work together but they were very responsive to listening to us and sometimes they would propose things and we would just chop it up and just be, like, ‘no, no, no, not this. This, this and this, you got to trust us, we're patients, we have this credit behind us'," said Edwin.
"We're learning all about the value of translation, how to get it right for medical terms. Across the board, anytime you try to go from one to the other, like when we’d try to translate something from English to anything else, it sounds so stupid to that native speaker, because we just use some wiki translator."
This is especially important because rare diseases aren't going to fit a very standard pattern like some of the really well known diseases, meaning it's really important to connect with a group like CSRF for these types of diseases to understand the nuances.
By partnering with organizations like CSRF, Ubie is able to incorporate the voice of the patient into the platform, said Kubo.
"We’ve refined the tool to frame the questionnaire in more patient-centric language to help patients better declare their symptoms. As with most AI, the output is only as good as its input. By providing better patient self-identification, the tool can more accurately guide patients. We’ve also workshopped the educational content that is presented to patients with a Cushing’s prediction to optimize guidance around taking action and equipped them to have informed conversations with their providers," he said.
"We’re now working on a validation study where diagnosed patients are using our system to test its accuracy. Once going through our Symptom Checker, the patient advocates will note if we provided an accurate diagnosis, give us insights into uncommon symptoms we may have missed, and ensure that the path to disease prediction is trouble free for potential future diagnoses."
The main goal of the partnership is to factilitate a shorter diagnosis time for patients with Cushings, and Ubie will measure success in two ways: first, it wants to see an increase in patients receiving a Cushing’s prediction that correlates with an actual diagnosis by their provider.
"This is achieved through increases in overall accuracy and care-seeking behavior. If we can improve the algorithm, help patients better self-identify and improve content that helps patients take better action, we’ll get there," Kubo said.
Second, Ubie is providing links to CSRF resources for those who do receive a potential diagnosis of Cushing’s, and it looking to see that it is delivering potential patients to the right resources and the support they need to help ease their journey.
This partnership with CSRF is also jusy the beginning for Ubie, as the company plans to enter into similar agreement with organizations that specializes in other rare diseases going forward.
"Our work with the Cushing’s Support and Research Foundation is the first in a series of collaborations that will help us shorten patient journeys to diagnosis, while also providing them with useful disease information that can help patients who have been searching for answers," said Kubo.
"Our goal is to continue to work with groups across a variety of diseases, as we view patients as an important part of developing an AI that connects directly with other patients. Every disease presents a unique patient journey, and incorporating patient voices helps us capture nuances that may be missed from aggregate data. We don’t have any partnerships we can name at the moment, but typically we’d look to partner with any organization representing a symptomatic rare disease."
(Image source: ubiehealth.com)
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