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AI-powered genetic testing

VnExpressVnExpress24/09/2023


HCM City: Integrated technology on MRI machines to support diagnosis of neurodegeneration, genetic testing, cosmetic surgery... are outstanding AI applications in medicine mentioned at AI4VN on September 21.

The solutions were presented by experts within the framework of the AI ​​Workshop with the theme "Application of artificial intelligence and big data in the field of healthcare". The AI ​​Workshop is one of the four main activities at the Vietnam Artificial Intelligence Festival (AI4VN 2023).

At the beginning, Mr. Lee Byung Jun - Head of Vuno Global Business Development discussed the presentation "Enhancing proactive care capabilities with AI". He stated that the demand for healthcare is increasing every day, leading to a shortage of doctors and nurses. Technology and AI will become the solution, meeting the needs in the healthcare industry. In more specific analysis, Lee Byung Jun described that technology will create non-invasive methods to diagnose diseases, monitor disease progression more effectively, and increase accuracy in emergency cases.

“There are three standards that medical AI software must adhere to: reliability, usefulness, and efficiency,” he stressed.

Mr. Lee Byung Jun opens the AI ​​Workshop on health. Photo: Ha An

Mr. Lee Byung Jun opens the AI ​​Workshop on health. Photo: Ha An

As a practical example, Vuno has a Brain MRI solution that can aid in the diagnosis of neurodegenerative diseases, provide quantitative data on brain segmentation, compare patient brain atrophy data with the normal population, and provide brain atrophy reports.

Another solution is Med-DeepBrain AD, which automatically detects white matter hyperintensities. This information aids in diagnosing neurodegenerative disorders such as Alzheimer's disease, and compiles it into reports for users to proactively monitor their health.

AI is also used in chest X-rays. Vuno integrates software directly into the X-ray machine and upgrades it to be CPU compatible. The device is currently installed in laser clinics and small hospitals in Korea, supporting more accurate and efficient daily assessments.

At the end of his presentation, Mr. Lee Byung Jun said that metadata is exploding, and using information generated by AI will help more patients access quality medical care in real time. At the same time, experts can make decisions more accurately and effectively.

"Vuno wants to go further, calculate the level of medical problems, thereby bringing appropriate upgrades and reasonable treatment to patients. We also wait for your cooperation," he emphasized.

Next, Dr. Hoang Hong Tham, Head of GeneStory Product Research and Development Department, analyzed "Application of AI in genetic testing in Vietnam". She shared how to collect and analyze data through AI, listed and introduced some genetic analysis methods using AI such as GeneStoryAI, GRUD, Spark4VCF (in Vietnam) or 23andme, Invitae (in the US)...

Dr. Hoang Hong Tham introduces AI-based genetic testing solutions. Photo: Ha An

Dr. Hoang Hong Tham introduces AI-based genetic testing solutions. Photo: Ha An

GRUD is a fast and reference-free genotyping method for low-cost genotyping platforms. The model is based on the Generative Adversarial Networks (GAN) architecture, which consists of two networks: Generator and Discriminator. The Generator is a deep network that generates unobserved genotypes based on the input variant. The Discriminator discriminates the genotype generated using the haplotype reference table to determine whether the genotype is real or fake.

Next Generation Sequencing was used to analyze blood samples from 33 patients with HBOC (hereditary breast and ovarian cancer) syndrome in Vietnam. HBOC is a hereditary breast and ovarian cancer syndrome that increases the risk of certain types of cancer, with an earlier age of onset than the average of the population.

By analyzing the survival rate between the incidence of breast and ovarian cancer in the combined family group, the study has the potential to contribute to solutions to improve public health.

At the end of the workshop, Dr. Hoang Hong Tham and Associate Professor Dr. Nguyen Truong Thinh - Director of the Institute of Intelligent and Interactive Technology, UEH discussed how to apply AI and big data to Vietnamese healthcare.

Associate Professor, Dr. Nguyen Truong Thinh answered many questions from the audience. Photo: Ha An

Associate Professor, Dr. Nguyen Truong Thinh answered many questions from the audience. Photo: Ha An

Discussing this trend, both experts agreed that AI is widely used in the medical and healthcare fields, especially in diagnosis, risk prediction, and finding appropriate treatment methods. AI and robots also help automate the nursing and healthcare process. "AI and Big Data play a big role in patient care," Dr. Tham affirmed.

Regarding the question: Can AI replace the role of doctors in patient care, Associate Professor, Dr. Nguyen Truong Thinh said that it is possible, but only partially. For example, diagnosis, prediction, and providing some treatment methods. But there are things that require human intervention, such as surgery...

When talking about AI applications in medicine, Mr. Thinh said that the Institute of Intelligent and Interactive Technology has collaborated with scientists at Pham Ngoc Thach University of Medicine to apply AI in the field of cosmetic surgery. This technology predicts the face before surgery, helping to recreate the original face of patients with deformed parts of this part. Meanwhile, GeneStory has launched many products to serve the medical industry, both in disease prevention and treatment, for example, gene analysis to screen for cancer, gene decoding to see if children have milk allergy. Both experts believe that gene decoding can personalize the treatment process.

Discussing challenges, Dr. Hoang Hong Tham said that each new field faces certain challenges. In the medical field, the most difficult problem is the lack of highly trained personnel. She cited that at GeneStory, employees mainly graduated from biotechnology and information technology, but still need a lot of time to self-study when working. The second challenge is how to train doctors and medical staff to understand and use new technology. Finally, the budget for research. To address these challenges, GeneStory strengthens cooperation with partners, closely following the series of products that have been launched on the market.

Both experts agree that data collection is currently a major barrier. Data standardization is not simple and requires the cooperation of many parties to have transparent and accurate information.

To promote AI applications as well as digital transformation, both experts proposed solutions: building infrastructure, training human resources, increasing investment in research. The most important thing is the cooperation of many parties, combining strengths from many fields so that AI becomes a strength for the medical - health care industry.

AI4VN 2023, with the theme "Power for Life", will take place at Riverside Palace, 360D Ben Van Don, District 4, Ho Chi Minh City. The festival is directed by the Ministry of Science and Technology, organized by VnExpress newspaper in coordination with the Information and Communication Technology - Faculty - Institute - School Club (FISU). During the two days of organization, the event is expected to attract 2,000 people.

Minh Tu - Hoang Anh

AI supports genetic testing - 3


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