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The program was organized with the aim of providing and conveying accurate medical information to the audience and to directly connect with the audience, especially the partners and customers. It also seeks to pursue the promotion of health protection and care awareness among the people. The talk show was done in the form of an online consultation on the official GENTIS Fanpage and the talk show was later aired on other online channels like YouTube etc,...
The Talk show “Genetic Counseling – Discussion with Experts” about “Guidance of Newborn Screening for Hemoglobinopathy Testing and Result Analysis.” with the presentation of Tran Thi Mai Chi, MD.PhD. and Pham Dinh Minh, PhD.
In the view of the WHO, approximately 8 million children are born annually with some birth defects. Of them, hemoglobinopathies are the most widespread type of genetic diseases across the world, although 7% of the population has the gene of the disease.
Understanding the importance of diagnosing and screening for hemoglobinopathies, GENTIS was honored to have two leading experts in pediatrics and genetic testing join this genetic counseling and expert discussion program:
- Tran Thi Chi Mai, MD. PhD.: Head of the Department of Biochemistry, Vietnam National Hospital of Paediatrics and Head of the Department of Medical Technology, Hanoi Medical University
- Pham Dinh Minh, PhD.: Director of R&D center , GENTIS
During the show, Dr. Mai has provided useful insights about hemoglobinopathies and newborn screening of these disorders. She stressed that newborn screening for hemoglobinopathies is very important for identification of affected infants. These are acquired disorders that are inherited and result in either the abnormal synthesis or abnormal structure of the hemoglobin chain.
During the show, Tran Thi Chi Mai, MD., PhD. has provided useful insights about hemoglobinopathies and newborn screening for these disorders.
Screening facilitates early detection, enabling doctors to implement appropriate diagnostic and treatment strategies. This helps minimize complications and improves the quality of life for affected children. For children diagnosed with hemoglobinopathies, doctors would provide genetic counseling to families to assist with family planning for future pregnancies.
Furthermore, newborn screening for hemoglobinopathy ] helps identify individuals who may be carriers of the disease gene. Genetic testing for these individuals empowers them to make informed decisions about marriage and family planning to prevent having children with the condition.
Answering a question from Dr. Linh about the need for gene analysis after a positive newborn screening result, Dr. Mai explained, "All cases with positive screening results require genotype analysis for confirmation. For cases where the disease is detected after screening and gene analysis, parents are recommended to undergo genetic testing as well."
Hemoglobinopathies are autosomal recessive disorders, so when a child is diagnosed, it means both parents are carriers. Therefore, genetic testing for parents is crucial for family planning purposes, offering hope for healthy children in subsequent pregnancies."
Pham Dinh Minh, PhD. shared the outstanding advantages of the newborn screening test for hemoglobinopathy at GENTIS.
Dr. Pham Dinh Minh highlighted, "GENTIS specializes in advanced testing, and we strive to provide our partners and customers with the highest test quality, giving doctors and families greater peace of mind in diagnosis and treatment. In addition to newborn screening for hemoglobinopathy, GENTIS offers a comprehensive genetic testing ecosystem to support the birth of healthy babies, including PGT-M for Thalassemia, Hemophilia, and more."
Dr. Minh emphasized that technology is paramount in determining test quality and accuracy. GENTIS has invested in a High-Performance Liquid Chromatography (HPLC) system from Bio-rad, USA, which offers 100% sensitivity for several major variants and ensures high accuracy. This enables GENTIS to meet testing demands in terms of turnaround time, cost-effectiveness, and delivering optimal value to doctors and clients.
Beyond quality, GENTIS prioritizes post-test counseling. For complex cases, GENTIS provides support from leading genetics and heredity experts, such as Tran Thi Chi Mai, MD. PhD., to address concerns and provide in-depth consultations.
GENTIS hopes that the valuable information shared by the two experts on "Guidelines for Testing and Analyzing Results of Newborn Screening for Hemoglobinopathy" will address the questions of doctors and the audience. GENTIS is committed to organizing more meaningful programs to deliver beneficial knowledge to medical professionals and valued customers.
