With 24 million pregnancies per year, there is vast need and demand from Chinese couples planning their families to understand whether they carry heritable risk factors for rare and serious diseases. Our carrier screen detects known risk factors in the Chinese population for some 200 diseases.
Clinical supportive diagnosis for genetic rare disease
There are an estimated 55 million children in China with undiagnosed rare diseases. We are working with two of the largest and most prestigious pediatric hospitals – Fudan and Ruijin – to address this pressing medical need. By applying the power of our renowned rare disease diagnostics and China variant knowledgebase, we expect to rapidly accelerate the number of cases solved and improve the treatment and prospects of patients. Using our platform will further accelerate this process by leveraging the China Precision Medicine Cloud that we have launched. It enables experts to interpret sequences from patients in other parts of the country and creates a cumulative data and knowledgebase of disease variants in the Chinese population.