Next Generation DNA Sequencing Technology in Malaysia

Ion-S5XL-Front-10in.jpgAn Interview with Dr. Mohamed Saleem (M.Sc Haematology, PhD Genetics), Genetics Laboratory Manager, GenomixLAB™


Can you tell us more about GenomixLAB™ and NIPT?

GenomixLAB™ focuses on chromosome evaluations and gene sequencing. Our laboratory is equipped with a complete bench of the latest state-of-the-art Next Generation Sequencing (NGS) machines including ION S5 XL Semiconductor Sequencer, Personal Genome Machine (PGMTM) and Ion-Chef from Thermo Fischer Scientific. In fact, we are the first company in this region to deploy ION S5 XL machine.

Non-invasive prenatal testing (NIPT) marketed as Non-invasive Chromosome Evaluation (NiCE™) is a chromosomal test offered by GenomixLAB™ to study

the presence of an abnormal number of chromosomes (aneuploidy) in the foetus of a pregnant mother. We offer NiCE™ testing in three formats. That is you can choose to test only the three most common chromosomal abnormalities including trisomy chromosome 21 (Down’s syndrome), trisomy 13 (Patau’s syndrome), trisomy 18 (Edward’s syndrome) and sex chromosome aberrations; or one can choose to test for aneuploidy in all the 23 pair of chromosomes. These two modes of testing can also be complemented with a third option of screening for 8 or 20 microdeletion syndromes in the foetus, including DiGeorge, Prader_Willi and Angelman to name few.   

What type of sample is needed for NiCE™ testing and how long does it take for reports to be available?

We require about 10mL of blood from the expecting mother at 10 weeks gestation collected into special blood collecting tube provided by the GenomixLAB™. Since samples are analysed locally here in Malaysian without the need to sent to overseas for testing, results will be available in not more than 10 calendar days. NiCE™ test is more than 99% accurate.

Apart from NIPT, what else do you all do?

In addition to the NIPT test, we also perform other genetic tests, such as BRCA 1 and 2 genes testing for early onset breast cancers risk assessment, Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) for chromosome and genetic disorder screening on IVF embryos, and many more.

If this is only a screening test and claimed to be more than 99% accurate, why then do one need to do a diagnostic test such as Amniocentesis or CVS in the unlikely situation where the NIPT result turns out to be positive?

Although the NiCE™ test is 99% accurate, all NIPT tests in the market remain screening test for clinical purposes. Therefore, before any intervention is decided on a positive NIPT results, a repeat chromosomal aneuploidy testing on an amniocentesis or CVS (Chorionic Villous Sample) is required to confirm the foetal diagnosis.

Does GenomixLAB™ offer the confirmatory testing on amniocentesis or CVS?

Yes GenomixLAB™ offers this service for our NiCE™ screen positive patients and for other referred patients as well.

You mentioned something about sex chromosomes earlier. Does this mean that you can assist the parents to determine the gender of the baby? Yes we can! NiCE™ test will determine the presence of the Y chromosome. If Y-chromosome was detected, the foetal gender will be regarded as male, whereas its absence denotes the baby is a female. Females carry two X chromosomes and lacks Y chromosome, whereas males carry both X and Y chromosomes.

How do you see this trend in Malaysia?

In Singapore, we were told that 80% of pregnant mothers are opting for NIPT today to avoid any future problems. In certain other countries, it had been included in the antenatal screening panel to carry out such tests as compared to the more conventional triple tests.

In Malaysia, the awareness of NIPT has not reach to a level where people can openly accept it. This is largely due to affordability of the test as well. Just like cord blood stem cell banking when it first started, the awareness is very low and not many people could appreciate the importance of keeping their precious baby’s cord blood stem cells. Today, almost all private hospitals carry out this procedure as it only takes 5 minutes to do this.

Similarly, NIPT is non-invasive and 100% safe for both the mother and her precious baby.  It gives the mother the peace of mind knowing the status of her baby as early as 10 weeks into her pregnancy. It is our yearn to see that this service that we are offering can come down to a level of affordability to all pregnant mothers one day as more and more pregnant mothers decide to choose this screening test. Like most services, as the volume of test goes up, the cost of screening will go down. Right now, many players are sending the samples to laboratories in overseas but we hope that they can trust our service as we do not compromise on the level of quality and standards since we benchmarked our service to those laboratories in Taiwan where they have a reputation of high standards in genetic testing.

CONTACT US FOR MORE INFORMATION
TEL : (+6) 03 6157 2299 • FAX : (+6) 03 6157 2223 • EMAIL : enquiry@genomixlab.com
ADDRESS : No. 47-3A, Level 3, Jalan PJU 5/12, Dataran Sunway, Kota Damansara,
47810 Petaling Jaya, Selangor DE, Malaysia
http://www.genomixlab.com

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