Simple blood samples test as many as 200 diseases for newborns
Why people who take the same medicine have different reactions ——some have no allergic reaction at all while some others might develop a rash? Studies show that it might have something to do with your genes. As of February 2020, statistics conducted by Taiwan Drug Relief Foundation indicated that certain drug hypersensitivity reaction are connected with genes from studies of Allopurinol, a medicine used to lower levels of uric acid in blood, and Carbamazepine, used primarily in the treatment of epilepsy and neuropathic pain. Both medicines are associated with HLA-B*5801 and HLA-B*1502, two alleles that have been associated with adverse drug reactions. These alleles are seen in higher frequency by as much as 10% in Han people, many times higher than Caucasians. Thanks to advances in precision medicine, now we can identify the genes associated with drug hypersensitivity reaction via genetic testing for newborns, making it possible to take necessary precaution once the baby is born.

A mortality rate is up to 50%: Severe hypersensitivity reaction is associated with mutated gene!
If one develops rash, throat or mouth ulcers, sore throat, swollen lips or fever after taking medicine, these symptoms can be highly suspected to be drug hypersensitivity reaction. Once stopping taking the medicine, most people will see the symptoms clear up. However, a small number of people are not so lucky. They might experience burning eyes or trouble swallowing, or even blisters. Some find out they are suffering from Steven-Johnson Syndrome (SJS) after going to the doctor, the risk of death with SJS might up to 10%. For those suffering from the more devastating disorder of toxic epidermal necrolysis (TEN), they might experience large areas of skin lesion, mouth ulcer or ulcer in the eye. The reported mortality rate is as high as 50%.

Dr. Dino Tsai (蔡昌霖) of Dianthus MFM Clinic pointed out the 6 symptoms of drug allergy include: rash, ulcer, pain, hives, swelling and fever. Drug hypersensitivity reaction can be mild but sometimes severe. Some might develop skin rashes, itches or ulcer, and some reactions might even lead to death. Usually, people only find out they have drug hypersensitivity reaction after actually taking the medicine. Those carrying specific genotype that might inducing serious adverse drug reactions.

Taiwanese have a higher chance of carrying specific genotype that predispose to Drug Hypersensitivity Reaction
Genetic testing helps ensure medicine safety!
A study about genes associated with SJS and TEN, published in the international medical journal Nature Medicine, shows that Asians have a higher chance of carrying specific genotype that predispose them to SJS and TEN than Caucasians. Chia-Cheng Hung (洪加政), who received a doctoral degree from Graduate Institute of Medical Genomics and Proteomics of National Taiwan University, said that in the United States and Europe, every 2 to 3 people out of a million have SJS, while every 8 people out of a million in Taiwan have SJS. That means there are new cases appearing averagely every 2 days. With advances in pharmacogenomics over the past decades, the associations between many genes and severe drug hypersensitivity reaction have been confirmed. As a result, U.S. Food and Drug Administration (FDA) advises patients from Asian ancestry to have genetic testing before taking certain medicine to ensure medicine safety.

Association between genes that predispose to drug hypersensitivity reaction and certain medicines:

As reality-of-life TV Series" Wake Up": malignant hyperthermia is difficult to be predicted
Once being discovered, diagnosed and treated early, many patients suffering from pediatric diseases can recover soon. The improvement of diagnosis and surgery in recent years in Taiwan also shows that the disorders can be treated using medicine or surgery. Dr. Tsai said he had met parents who have allergic reactions to anesthetic medications and consulted him because they didn’t want the same thing happening to their baby. Allergic reaction to anesthetic medications can be mild but sometimes severe. In the television drama, Wake Up, a patient developed malignant hyperthermia. It was one of the most severe scenarios of drug allergy. The patient might have muscle cramps, shortness of breath, heart arrhythmia and other symptoms, and will likely die if not treated promptly. Malignant hyperthermia is hard to be predicted and usually develops suddenly during surgery. The symptoms change rapidly, making it difficult to treat the patients promptly.
 

Dr. Tsai also pointed out that while Dantrolene can be used to treat malignant hyperthermia, it still requires early detection with enough doses given in time to increase the chances of survival. In most cases, the defective gene that puts one at risk of malignant hyperthermia is inherited. If people can anticipate the risk if they carry such defective genes, it will give them time to take precautions. Therefore, Dr. Tsai urged people who have such family medical history to have genetic testing so precautions can be taken.

A single test to detect 200 diseases and protect the health of newborns
Dr. Tsai said that in the past, people were in a passive position —— they could only deal with drug hypersensitivity reaction once it happened or took tests in an indirect way. When they did learn about it, it was often too late. However, with advances in precision medicine nowadays, genetic testing can discover potential allergic reaction to medicine, even on newborns, allowing parents to be better prepared.

Dr. Hung said that currently most genetic testing for newborns can only test hearing impairment and central nervous system disorders. Now, there are companies that combine Next-Generation sequencing (NGS) technology and genetic testing for newborns and drug hypersensitivity reaction through blood samples to test as many as 208 genes, 200 diseases and learn about reaction to medicine in advance. The tests will prevent drug hypersensitivity reaction and provide as many as 12 categories of genetic testing for diseases, allowing parents to learn more about the health of their babies. Genetic testing for newborns is unlike regular health checks in that you only need to do it once. Learn about the health risks for your children in advance will make your babies healthy and help parents become better prepared.