NEW TECHNOLOGY FOR GENETIC DIAGNOSTIC IN VIET NAM

For the first time in Vietnam, Illumina BeadArray – Infinium technology, based on Single Nucleotide Polymorphism (SNP) has been successfully implemented. This is an important milestone in using genetic technology for diagnostic of genetic diseases, personalized medicine and the rising healthcare standard of Vietnamese.

The technology is based on Illumina BeadArray – Infinium which uses Single Nuleotide Polymorphisms (SNP). The HumanCytoSNP-12 BeadChip is a powerful whole-genome scanning panel designed for efficient, high-throughput analysis of genetic and structural variations that are relevant to human diseases.

Compared with Array Comparative Genomic (ACG) technology, the HumanCytoSNP-12 BeadChip, which has 3 times the power, about 300.000 SNPs targeting regions and a resolution up to 62 kb, will overcome the limits of ACG and also be able to identify triploidy, maternal cell contamination, low low-level mosaic embryo, loss of heterozygosity (LOH), etc.

This technology is currently used widely with extensive application in prenatal, postnatal and cancer diagnostic. With a detection rate up to 15%, chromosomal microarray has been recommended as a first-tier clinical diagnostic for individuals with fetal abnormal ultrasound, multiple congenital anomalies, unexplained developmental delay/intellectual disability or autism spectrum disorders. This is also the recommendation of American College of Obstetricians and Gynecologists (ACOG) and The Society for Maternal-Fetal Medicine.

High-throughput Illumina HumanCytoSNP-12 BeadChip

In Vietnam, for cases that required prenatal diagnostics, usually old diagnostics tests are used (karyotype và prenatal BoBs) with many limitations, including low detection rates of 6% (karyotyping by chorionic villus sampling) and 3% (karyotyping by amniocentesis). This implies that there is a major ratio of abnormal fetus not diagnosed due to the limits of diagnostic technology.

Microarray identifies extra 6% of small abnormalities and 50% of stillbirth cases

Microarray helps physicians identify and extra 6% of small abnormalities that old methods will miss. In addition, microarray also helps identify abnormalities in stillbirth samples for more than 50% of cases.

Besides Illumina BeadArray, Illumina’s TruSight One Expanded technology – which sequence and analyze around 6700 genes related to human genetic diseases are also being implemented in Vietnam. The results of these new technologies will enable new screening, diagnostic and therapeutic solutions for genetic diseases.

As the official representative of Illumina – the world’s leading compay in the field of gene sequencing, Biomedic Scientific Materials Joint Stock Company has been collaborating with research centers, healthcare organizations to bring the latest technology solutions used in disease research, drug development and molecular diagnostics.

The successful implementation of these two technologies is an important milestone in using genetic technology for diagnostic of genetic diseases, personalized medicine and the rising healthcare standard of Vietnamese. With the criterion of becoming a pioneer in providing molecular biology tests in Vietnam, Biomedic has been making efforts to support domestic customers in deploying the most advanced technology applications in researches. , laboratory, obstetrics and gynecology, oncology, infectious diseases and criminal examination.