Online Tool Could Help Users Find Possible Causes of Their Symptoms

Online Tool Could Help Users Find Possible Causes of Their Symptoms
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ThinkGenetic is set to release a version of its online interactive tool to help in the diagnosis of Fabry disease as part of upcoming pilot initiatives by Takeda Pharmaceutical.

The initial pilot programs, to be released this year, will also include versions of the diagnostic tool, called SymptomMatcher, for other chronic conditions such as Gaucher disease and Hunter Syndrome.

“Disease awareness and diagnosis are two very critical steps in addressing the needs and treatment of patients with Rare Metabolic Diseases like Fabry, Gaucher and Hunter,” Marie Gray, an executive at Takeda, said in a press release. “The Takeda teams in GEM [Growth and Emerging Markets] are motivated and excited to roll-out our disease awareness pilots in 2021.”

Takeda’s pilot program, which began in Taiwan, was designed to educate patients about Fabry and Gaucher disease through easy-to-use online landing pages. The pilot program also introduced specific versions of the SymptomMatcher diagnostic tool for those medical conditions.

The tool uses artificial intelligence to determine if seemingly unrelated signs and symptoms could be the result of an underlying, undiagnosed genetic condition. It uses plain language and a simple question-and-answer format to guide users through the online process. Users answer general questions about themselves and their health, then enter the symptoms they’re experiencing. Then the SymptomMatcher finds genetic diseases that might explain some or all of the presented symptoms.

“Providing interactive, patient-focused tools empowers individuals and families to understand possible underlying causes of their medical issues and effectively discuss them with their healthcare providers,” said Dawn Laney, genetic counselor and co-founder of ThinkGenetic. “This is a critical element to shortening the diagnostic odyssey.”

After the first pilot program in Taiwan, Takeda is expanding the initiative to five countries: Mexico, Argentina, Brazil, Turkey, and Russia.

“This collaborative undertaking not only supports important educational initiatives in genetics but also harnesses the power of innovative technology to decrease the diagnostic odyssey,” said Dave Jacob, CEO of ThinkGenetic. “This partnership initiative can help provide a way for patients and healthcare providers to work together and uncover possible causes of health issues due to an underlying genetic component.”

Diana holds a PhD in Biomedical Sciences, with specialization in genetics, from Universidade Nova de Lisboa, Portugal. Her work has been focused on enzyme function, human genetics and drug metabolism.
Total Posts: 7
Ana holds a PhD in Immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. She graduated with a BSc in Genetics from the University of Newcastle and received a Masters in Biomolecular Archaeology from the University of Manchester, England. After leaving the lab to pursue a career in Science Communication, she served as the Director of Science Communication at iMM.
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Diana holds a PhD in Biomedical Sciences, with specialization in genetics, from Universidade Nova de Lisboa, Portugal. Her work has been focused on enzyme function, human genetics and drug metabolism.
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