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The workshop was attended by the medical staff of Hong Ngọc Hospital.
Representing GENTIS, Nguyen Thi Huyen, MD.MSc. - a senior researcher and genetic consultant at GENTIS Genetic Counseling Center, participated in the workshop.
At the workshop, Nguyen Thi Huyen, MD.MSc. presented a detailed report on the expanded thalassemia testing package developed by GENTIS.
Ms. Nguyen Thi Huyen began the workshop by providing a detailed explanation of the pathogenesis of hemoglobinopathies and common thalassemia mutations in the Vietnamese population.
Dr. Nguyen Thi Huyen provided a detailed presentation on Thalassemia.
Thalassemia is the most common single-gene genetic disorder in the world. According to a 2008 report by the Thalassemia International Federation and WHO, an estimated 7% of the global population carries the thalassemia gene, and over 330,000 children are born with severe forms of the disease each year.
In Vietnam, the prevalence of the thalassemia gene is estimated to be as high as 12%, with over 12 million carriers. Thalassemia affects people from all provinces and ethnic groups across the country. Currently, there are over 20,000 people living with thalassemia and requiring lifelong treatment, and approximately 8,000 new cases are diagnosed each year, including around 2,000 severe cases and 800 fetal deaths due to fetal hydrops. (According to statistics from the Vietnam Thalassemia Association)
In order to help gene carriers be proactive in controlling and preventing Thalassemia, especially Thalassemia major as well as building a healthy community, GENTIS launches an expanded Thalassemia testing package to help detect mutations related to alpha thalassemia and beta thalassemia.
Mutations detected:
The information about the testing package generated significant interest among the attending physicians.
The doctors showed great interest in the content of the testing package.
In response to MSc. Hoang Thi Thuan's question about the percentage of detected mutations compared to the total number of reported mutations, Ms. Nguyen Thi Huyen stated that:
“The mutations detected by GENTIS's expanded thalassemia testing package account for 97-98% of all thalassemia carriers. Additionally, GENTIS is currently researching and refining the process to develop a test that can detect even more alpha thalassemia mutations.”
The medical team's inquiries received comprehensive and specific advice.
Moreover, Dr. Huyen provided detailed and clear answers to all the questions raised by the medical team. GENTIS's expanded thalassemia testing package is an advanced test that utilizes Illumina's next-generation sequencing (NGS) technology to enhance the detection of rare mutations that are not included in traditional testing packages. The doctors unanimously agreed that this testing package is a valuable tool for both clinicians and patients in screening for this dangerous genetic disease.
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Thalassemia (congenital hemolysis) is the world's most common monogenic disorder. It is estimated that in the world, about 7% of the population currently carries the disease gene, over 330,000 children born annually suffer from the disease. In Vietnam, according to a report by the National Institute of Hematology and Blood Transfusion, all 63 provinces/cities and 54 ethnic groups have people carrying the disease gene. The numbers on the situation of congenital hemolytic disease in Vietnam are really alarming. It is estimated that about 14 million people carry the disease gene across the country (accounting for about 13%).
You should take an expanded thalassemia test for health screening today
According to statistics from the Vietnam Congenital Hemolysis Association, there are more than 20,000 patients who need treatment, of which 44% are children (<15 years old). Currently, more than 20,000 people with thalassemia need lifelong treatment and about 8,000 more children are born with thalassemia annually, of which about 2,000 are severely ill and about 800 cannot be born due to hydrops fetalis.
In addition, thalassemia is also a genetic disease with the highest incidence, a severe prognosis and requires large treatment costs. In fact, it also shows that the cost to prevent thalassemia is much smaller than the cost of treatment with outstanding efficiency.
Therefore, screening for thalassemia is necessary for everyone, especially those with a family history of the disease, which should be done right from the premarital stage. In case the couple unfortunately carries the disease gene, the doctor should advise on healthy childbirth measures to move towards ending the situation of the child being born with the disease and gradually reducing the inheritance rate of the disease gene in the community.
In order to help disease gene carriers be proactive in controlling and preventing thalassemia, especially severe thalassemia as well as building a healthy community, GENTIS has launched an expanded thalassemia test package to help detect gene mutations related to alpha thalassemia and beta thalassemia.
Screening Scope:
Note: A negative result does not exclude samples carrying duplication/deletion mutations or intels greater than 4 nucleotides.
At GENTIS, the expanded thalassemia test uses Illumina's NGS next-generation gene sequencing technology to enhance the specificity, sensitivity, and accuracy of the test. This is a technique that is considered the gold standard because it will help determine exactly whether you carry the alpha thalassemia or beta thalassemia gene. From there, it supports doctors in diagnosing and treating diseases effectively and providing reasonable reproductive advice.
In addition to the expanded thalassemia test package, GENTIS is currently providing 3 thalassemia test packages to help reduce the burden on many families, as well as society and have suitable options for the next generation to be healthy:
In order to serve customers with advanced tests, GENTIS always invests in complete, modern facilities, ready for research as well as product improvement. Not only that, GENTIS is also proud to own a team of highly qualified, skilled staffs who are passionate and knowledgeable about technological and technical advances and constantly updating new knowledge of the industry in the world. In particular, GENTIS always has a Scientific Council with experts who are experienced researchers to "increasingly improve the physical and intellectual quality of Vietnamese people".
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Notably, the reports were divided into multiple sessions with diverse topics, catering for the interests of doctors and experts. This provided issues and solutions to help address treatments in the medical field in general and reproductive health in particular.
As a sponsor, GENTIS showcased a booth to introduce delegates to advanced prenatal screening services such as NIPT-GenEva, PGT-M detecting over 100 single genes, and more. Through the symposium, GENTIS brought its testing services closer to experts and doctors nationwide to best support them in the fields of assisted reproduction, obstetrics, and pediatrics.
Remarkably, GENTIS continues to invest in high-tech equipment combined with a team of top experts, delivering valuable genetic tests to customers and partners. In addition, GENTIS has professional genetic counselors to provide the best advice and information on testing.
During the symposium, the GENTIS booth welcomed hundreds of doctors and experts who visited to learn about genetic tests. GENTIS also expressed gratitude by giving small gifts to delegates who participated in the minigame.
With a deep commitment to improving the health and well-being of Vietnamese people, GENTIS will continue to research and develop its genetic testing services, contributing to the advancement of genetic testing and the overall growth of the medical field.
Let’s look back at the impressive images of GENTIS at the 24th Vietnam - France - Asia - Pacific Obstetrics and Gynecology Conference!
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GENTIS is proud to have been accompanying the symposium over the years. In 2024, GENTIS is honored to be one of the main sponsors, partnering with Tu Du Hospital and contributing to the success of the symposium.
As a sponsor, GENTIS will introduce testing products related to assisted reproduction, obstetrics, and pediatrics, notably the PGT-M test, NIPT GenEva, and newborn screening. Additionally, visitors to the GENTIS booth will receive hundreds of valuable gifts.
The event will take place from May 9-10, 2024, at Riverside Palace Conference Center, 360D Ben Van Đon, Ward 1, District 4, Ho Chi Minh City. Don’t miss the opportunity to attend the 24th Vietnam - France - Asia - Pacific Obstetrics and Gynecology Conference on May 9-10, 2024!
GENTIS looks forward to welcoming and collaborating with esteemed doctors and experts at the conference
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Sharing about the significance of the PGT-M test with couples who are expecting children and want to perform IVF, Assoc.Prof.Tran Van Khoa, PhD.MD. said: "PGT-M is one of the most effective, most active, and earliest preventive screening measures to prevent genetic diseases. PGT-M is also a hope for couples who are unfortunate enough to carry the disease gene and are at risk of bearing a child affected."
Pham Dinh Minh, PhD. added: "Currently, most genetic diseases, especially those caused by genetic mutations, still have no treatment, if any, the price is also very high, difficult to access, causing burdens for patients' families and society. Therefore, screening and prevention of these diseases has become very important."
It can be seen that the advancement of gene sequencing technology has brought advanced solutions that greatly help the preimplantation screening process, and PGT-M is one of the most effective and outstanding solutions.
Both Assoc. Prof. Khoa and Dr. Minh agreed that: "PGT-M is a difficult test, requiring investment in advanced scientific technologies and equipment to ensure accuracy." With a laboratory system that meets ISO 13485:2016, ISO 15189:2012 standards, along with modern machines equipped with the latest technologies, GENTIS is one of the few testing centers that can perform qualified PGT-M tests, ensuring high accuracy and optimal turnaround time. From there, it helps to screen for monogenic genetic diseases effectively and provide maximum support for reproductive support purposes.
"To ensure the most accurate PGT-M test results, it is necessary to have a combination of clinicians, genetic consultants, embryologists and testing labs. GENTIS has established the Genetic Counseling Center to support clinicians and embryologists to use and understand the test in the best way" - Dr. Minh emphasized.
"Genetic counseling is often carried out in clinics, hospitals, and centers by geneticists and assisted reproductive doctors. Genetic counseling revolves around the exchange between doctors and patients, in order to provide information for doctors to identify general and genetic risks, evaluate, consider, select appropriate tests, and find out the underlying cause of the disease. The most important thing is that the genetic counseling process must ensure that three factors are accurate, complete and most suitable for the patient. The ultimate goal is that patients can participate in the treatment process and make treatment decisions that are suitable for their family circumstances," added Nguyen Thi Huyen, MSc.MD..
In addition, Dr. Huyen and experts also answered a lot of questions from the audience about monogenic genetic diseases. These are all valuable knowledge that is summarized and explained in the most understandable way for everyone.
Hopefully, the sharing of experts in the talk show will help doctors and nurses working in the field of assisted reproduction gain a lot of useful updated knowledge. At the same time, it brings a new hope to couples who unfortunately carry the disease gene and are looking forward to having children.
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The keynote speaker of the event was Specialist level 1 Tran Thi Thanh, MD., Deputy Head of the Obstetrics Department at Thai Binh Hospital. At the event, Dr. Thanh shared detailed information about the two childbirth methods (vaginal birth and C-section), providing expectant mothers with a comprehensive overview. This helped them choose the birth method most appropriate in terms of physical health for both the mother and the fetus."
According to obstetrics experts, vaginal delivery offers more benefits to both mother and baby compared to C-section. Therefore, doctors always encourage healthy pregnant women to have a vaginal delivery.
Just in cases where pregnant women have medical conditions that inhibit a vaginal birth, it is necessary to follow the advice of a specialist to ensure a healthy mother and baby. Regardless of the chosen birth method, mothers need to cooperate well with doctors during labor to ensure a smooth and safe delivery. Additionally, Dr. Thanh also emphasized the significance of newborn screening tests for babies.
Currently, newborn screening is considered the most efficient method for early abnormalities detection, allowing timely intervention to prevent complications and damage. Additionally, this test also increases survival rates, diminishes the impact of diseases, and helps prolong patient lifespan. Simultaneously, it helps to save healthcare costs by enabling early detection.
Not only did the workshop provide mothers with solid knowledge from Dr. Thanh, but it also served as a warm and intimate gathering where mothers could share their inner thoughts and hidden feelings through daily stories around their pregnancy journey. Notably, expectant mothers were able to directly ask questions and receive answers from the doctor. Hopefully, this valuable knowledge will empower mothers to feel more confident in caring for themselves and their babies.
In addition, when attending the workshop, mothers also had the opportunity to receive appealing gifts from the hospital, GENTIS and other brands. Coming to the program, GENTIS has brought valuable gifts to bring joy and meaningfulness to parents. These include adorable teddy bears and a 50% discount voucher for a newborn screening test covering 83 diseases, covering 5 center diseases (congenital hypothyroidism, G6PD deficiency, congenital adrenal hyperplasia, phenylketonuria, galactosemia), Hemoglobinopathies, as well as 77 metabolic disorders.
GENTIS would like to express our sincere gratitude to High-Quality General Hospital of Thai Binh for allowing us to partake in this meaningful event. We hope that with the speaker’s sharing, mothers would be more confident in their journey to welcoming their babies, while also having a better understanding of the importance of newborn screening. We look forward to continued support from you.
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Precision medicine and personalization are revolutionizing the field of ART. This approach offers numerous benefits, enabling us to treat the right patient, at the right time, with the right drug, at the right dose. As a result, it minimizes unwanted side effects and reduces unnecessary trials.
Moreover, precision medicine and personalized medicine also help to reduce treatment time and costs for patients. Patients are actively involved in their own treatment process, gaining a better understanding of their condition and participating in selecting more suitable treatment options. Additionally, the shifting from treatment to prevention, in other words, personalized medicine helps us prioritize prevention over cure.
The core of these methods lies in genetic testing. Due to advancements in technology, genetic testing has become increasingly integrated with precision medicine, making it an indispensable part of the field of assisted reproduction. Genetic testing plays a crucial role in all stages of the reproductive process, including testing related to parents, embryos, during embryo transfer, prenatal screening and diagnosis, as well as newborn screening and postnatal diagnosis.
In reproductive medicine, genetic testing is particularly conducted for three main purposes. These are identifying the causes of infertility, detecting genetic diseases that may be passed on to the child, and optimizing assisted reproductive technology (ART). Depending on the specific condition, patients may need to undergo testing at any stage of the reproductive process.
GENTIS applies the latest devices and technologies in gene sequencing to deliver valuable tests to our customers.
In Vietnam, GENTIS is a pioneer in the research and development of genetic tests for the personalization of infertility treatment. GENTIS boasts modern laboratories equipped with Next-Generation Sequencing (NGS) technology, providing accurate results for our customers.
Currently, GENTIS offers a comprehensive ecosystem of genetic tests for screening, diagnosis, and personalized medicine in the field of assisted reproduction. This includes tests for parents, embryos, the embryo transfer environment, and maternal and fetal health.
Among the notable tests are PGT-A/SR, PGT-M, PGT-Max1, ASEM Test, Karyotype, Thalassemia, Thrombophilia, Fertiscan, Ultragen, AZF, Sperm DNA, Genratest, Antiphospholipid, NIPT-basic/Geneva, and newborn screening, ... In addition to providing genetic tests, GENTIS has established a Genetic Counseling Center to support clinicians and reproductive centers in accurately and effectively interpreting test results.
The Importance of Genetic Counseling in the Genomics Era
MSc. Nguyen Thi Huyen, M.D (R&D Specialist at GENTIS), stated: "In the Genomics era, genetic counseling is involved in all stages of the human reproductive process, from pre-pregnancy, pre-embryo transfer, prenatal, to postnatal stages. Specifically, genetic counseling helps assess the risk of genetic diseases and evaluate and determine genetic patterns for appropriate indications.
Additionally, genetic counseling aids in interpreting genetic results, assessing genetic risks for future generations, and evaluating screening in relatives. It also provides information on the benefits/limitations of genetic tests to clinicians, facilitating discussions and helping to determine more appropriate treatment options."
MSc. Nguyen Thi Huyen, M.D (GENTIS), presented at the Scientific Conference and the 2nd Congress for the 2024-2029 term.
Additionally, genetic counseling plays a crucial role in educating and supporting patients, helping them better understand their condition and make informed decisions. More importantly, it assists patients in accessing other necessary medical services when needed.
Despite its importance in the Genomics era, geneticists still face many challenges when advising patients. For instance, they must explain risks to patients who might then reconsider or lose the opportunity for embryo transfer, and they encounter limited consensus and guidelines on managing results, monitoring pregnancies after test results, and screening relatives. They also face challenges in optimizing costs and time for patients.
Therefore, it is essential to have a coordinated approach involving the expertise of clinical physicians, embryologists, laboratory technicians, and geneticists. Additionally, collaboration with obstetricians and gynecologists is necessary for optimal pregnancy management, and with pediatricians and geneticists for postnatal care.
Despite these challenges, the current achievements indicate that precision medicine and personalization are the future of the medical field, influencing genetic counseling and treatment by physicians. To stay abreast of these developments, GENTIS continuously invests in the latest gene sequencing systems for testing and assisted reproduction, aiming to research, develop, and apply genetic analysis technology in precision medicine.
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