Cases

Next Generation Sequencing

Next generation sequencing is a new gene detection technology, which can analyze, identify and predict the possibility of having or inheriting a variety of disease through testing a person’s blood, saliva or embryonic cell. Gene sequencing technology has been used clinically from the stage of laboratory research. It is believed that gene sequencing technology may be the next technological advancement that may change the world.

Gene Sequencing Technology

Gene sequencing technology can find individual abnormal gene to prevent occurrence or treat its related illness in advance. In the latest gene sequencer, the chip replaces the traditional laser lens, fluorescent dye, etc., and the chip itself is the sequencer. The sequencer can directly detect the ion flow generated by DNA replication through semiconductor sensors. When the reagent enters the chip through an integrated fluid pathway, the reaction pores that are densely distributed on the chip have millions of micro-reaction systems immediately. This combination of technologies enables researchers to obtain genetic information within two hours. Before this invention, traditional optical sequencing technology took weeks or even months to process and was extremely costly.

Function

Gene sequencing is one method of gene detection which is also called gene spectrum sequencing. It is an internationally recognized standard for gene detection. Gene sequencing is well-known as a non-invasive prenatal genetic screening testing for Down syndrome. It only requires a peripheral blood sample from pregnant women to sequence free DNA (including free fetal DNA) in the blood and analyze the sequencing to determine whether the fetus has chromosomal abnormalities. Diseases including the common 21-pair chromosome trisomy syndrome (Trisomy-21, Down syndrome), 18-pair chromosome trisomy syndrome (Trisomy-18, Edward's syndrome), and 13-pair chromosome trisomy syndrome (Trisomy-13, Patau syndrome). In addition, gene detection can identify mutations in human genes associated with cancer.

Gene Sequencing Saves Twin Babies

In 1996, twin babies were born: a boy and a girl. However, they behaved differently from others. From the first day they were taken home, they vomited several times a day. When the twins were two years old, they were diagnosed with cerebral palsy. Under careful treatment and care, their conditions seemed stable. However, at the age of five and a half, their conditions began to worsen. The girl's eyeballs turned upward and her hands could not be placed downwards normally, while the boy vomited continuously 24 hours a day. They could not walk or speak normally. Since then, their disease relapse multiple times, but there were no available methods that could help them. In 2003, the twins, their brother and parents received a check of gene sequencing. After comparative analysis, it was found that the pathogenesis resulted from a gene mutation of reductase, which destroyed the cellular pathway of production of dopamine and two other nerve mediators.

The doctor made an accurate treatment plan immediately after finding the cause of their disease. About one month later, the twins’ conditions improved dramatically and their health became much better. This indicates how important the genetic sequencing technique is.

Gene sequencing for successful treatment of non-small cell lung cancer

In 2004 a 32 year-old male patient, with non-small cell lung cancer (NSCLC) in his right lung, had his genome sequenced. The results illustrated that he carried a mutated gene of Epidermal Growth Factor Receptor (EGFR), known as EGFR L858R mutation. Doctors used a targeted drug EGFR inhibitor, namely Gefitinib (Iressa) to treat his condition. The tumor in the right lung significantly decreased in size and his conditions improved six weeks later.

Gene sequencing for successful treatment of metastatic sarcoma

In 2013, a patient was found to have a metastatic sarcoma which is a malignant tumor. Metastatic sarcoma mainly invades connective tissue including fat, muscle, blood vessels, deep skin tissue, cartilage, tendons, ligaments and nerves etc. His genetic testing results indicated that he had a mutated gene. He was then treated with a specific targeted drug, Sunitinib malate (trade name Sutent), and re-examined using the magnetic resonance imaging (MRI), which showed that the tumor decreased significantly in size.

CHMSUN is highly interested in the potential benefits that gene sequencing technology can provide and benefit patient. This technology can be used to help doctors and scientists to diagnose and treat genetic diseases, congenital non-genetic illnesses and various forms of cancer accurately.