Bumrungrad Genomics: Transforming Healthcare in the Era of Precision Medicine

July 25, 2022
Genetic technologies and knowledge are considered to be a rapidly advancing modern innovation. Our knowledge of genetics has progressed by leaps and bounds following the success of the Human Genome Project—one of the greatest international research projects in the history of the world, through which we were given the ability, for the first time, to decipher the complete genetic code of a human being. It is now possible to study and analyze a large number of genes in an entire genome in one single procedure, at lower costs and in faster time periods than ever before. This enables us to take information obtained from genetic testing and use it in diagnosis and treatment and, more importantly, in disease prevention and holistic healthcare at affordable, accessible prices. Bumrungrad International Hospital is the first in Asia to offer preventive use of this technology for patients and wellness-lovers alike. 

Advance Knowledge of Your Risk Factors is Key to Prevention
Genetic testing helps to detect changes or abnormalities in a person’s DNA or genetic code. The results of this type of testing can help identify risks of developing certain diseases, responses to medications, and drug allergy risks. This then makes it possible to take a more proactive role in preventing disease and guiding preventive lifestyle or behavior modifications that will reduce risk of specific conditions, while it also helps doctors choose the most effective drugs or treatment for each individual patient. Bumrungrad Hospital provides this medical innovation as part of its integrated medical care, maximizing the benefits for patients and all service recipients under Bumrungrad Genomics Innovation, with a focus on three congruent areas as follows:

1. Medical Services
2. Clinical Genomics and Precision Medicine Laboratory
3. Research and Development

     1. Medical Services: In addition to diagnostic services for the treatment of already existing genetic diseases, Bumrungrad established Asia’s first “The Preventive Genomics and Integrative Medicine Center to provide comprehensive services administered by a multidisciplinary team of doctors, including pre-test consultation; genetic testing; laboratory analysis that is certified to established standards; and the interpretation of genetic testing results, which requires an experienced geneticist. If any genetic risk factors are found, they can be referred to a specialist physician for consultation or to create the most effective treatment plan.

The benefits of preventive genetic analysis at the Preventive Genomics and Family Checkup Services Centerinclude the informed prediction of future health conditions, enabling proper planning to prevent certain serious diseases; diagnosis of hereditary disorders; indication for appropriate and personalized treatment guidelines for each individual patient; help with family planning; and reduction of drug allergy and improper dosage risksIn the past, this type of screening would have been suitable for those with a family history of cancer, heart disease, or death from unknown causes orduring exerciseHowever, genetic testing now emphasizes a proactive approach todisease prevention and the detection of risks, even in people who are in good healthTesting can be carried out on those of all ages, or even at birth, as the effects of a persons genes are with them throughout their lifeThe Preventive Genomics and Family Checkup Services Centerprovides preventive genetic testing to detect risk prior to development of the disease, covering 4 main areas

          1.1 Cancer Diseases that can be genetically transmitted, such as breast cancer, ovarian cancer, uterine cancer, colorectal cancer, prostate cancer, thyroid cancer, etc.   
          1.2 Cardiovascular Diseases, which are divided into 4 groups: cardiac arrhythmias, aortic aneurysms and ruptures, familial hypercholesterolemia, and heart failure or heart attack, all of which pose the risk of sudden death

          1.3 Prepregnancy Carrier Gene Testing in order to prevent inherited diseases that could affect offspring. In contrast to other forms of testing that offer only selective tests for specific diseases, Bumrungrad provides screening and diagnosis of congenital abnormalities from more than 300 genes associated with more than 100 congenital diseases. With our highly advanced technology, Bumrungrad has developed gene testing kits based on the relatively high incidence of certain genetic diseases in children, including the x-linked recessive gene, Down syndrome, deafness, blood diseases such as thalassemia, myasthenia gravis (muscular weakness), and other genetic conditions or disorders. We have selected the best, most suitable technology for testing and analysis, such as noninvasive prenatal testing (NIPT), which is a method of determining the risk of fetal genetic abnormalities. This test analyzes small fragments of fetal DNA, called cell-free DNA, from a maternal blood sample. This is used instead of amniocentesis, which carries a risk of miscarriage.

          1.4 Pharmacogenomics and Precision Medicine in order to predict the likelihood of allergies to certain drugs or a patient’s response to medications. It covers a wide variety of commonly used drugs such as diabetes drugs, heart medications, blood pressure medications, sleeping pills, drugs for Alzheimer’s disease, psychiatric drugs, etc. Sometimes the same drugs prescribed to different patients can yield different results or efficacies, while some patients may develop severe allergies to a certain drug. There are many factors related to any given drug or medication, but one of the most important is the patient’s own genetics, as these regulate protein functions related to drug response, thereby affecting treatment and the need for dose adjustment. The type of drug allergies that cause the most concern for doctors are severe cutaneous adverse drug reactions, or severe skin allergies, often characterized by blistering, peeling skin that looks like a burn or scald and can result in serious damage to or loss of organs or even death. Drugs that Thai people tend to have the most severe skin reactions to include sulfonamides, gout medications, and anticonvulsants, among others. In addition, we assess for possible interactions between drugs and foods or herbs, which could then cause an adverse drug response. With all of this information, a whole set of very useful data can thus be acquired comprised of: 1. the genetic effects, 2. the suitability of medication combinations, and 3. the suitability of food and diet.

2. Clinical Genomics and Precision Medicine Laboratory:
At present, Bumrungrad is utilizing Next Generation Sequencing technology with the principles of massive parallel sequencing; this involves the analysis of genetic materials, both in Bumrungrad’s own laboratory and at international laboratories cooperating with Bumrungrad. The laboratories have received accreditation from the College of American Pathologists (CAP) and certification by the Clinical Laboratory Improvement Amendments (CLIA)—international standards that ensure accuracy and consistency in the quality of diagnosis and laboratory results. Bumrungrad Hospital has a team of more than 10 doctorate-level scientists, geneticists, bioinformaticists, and data scientists working in genetics innovation. We also hold meetings that bring together a full team of multidisciplinary doctors in fields such as genetics, cardiology, and cancer, as well as a team of surgeons, radiologists, pathologists, other specialists, pharmacists, nursing professionals, and nutritionists who then jointly determine patient care guidelines across multidisciplinary fields in order to ensure a consistent and proper approach to patient care with a focus on prevention.

3. Research and Development:
While the testing kits of just 15-20 years ago may not have yielded great prediction accuracy, today, however, it must be acknowledged that due to the rapidly increasing body of knowledge, genetics specialists are able to propose which specific genes should be tested to provide high prediction accuracy in line with medical indications. In this regard, Bumrungrad’s research and development unit carefully considers and selects the appropriate genetic-testing kits which are most suitable for disease groups and offer life-long benefits for patients. Importance is also placed on preventive and effective treatment processes, ensuring patients are able to feel comfortable and at ease. This unit both conducts its own research and collaborates with a variety of other institutions nationally and internationally with the aim of continually expanding our understanding and seeking out new knowledge, including with regard to the use of artificial intelligence (AI). This means that if new genes are discovered in the future that could pose additional risk to patients of certain disease groups or drug allergies, the hospital will always keep patients informed to insure our services remain up-to-date.

Innovation Highlights
With its more than 40 years of experience, Bumrungrad Hospital has upgraded to a quaternary care hospital through the use of advanced technology and innovation in medical care, enabling the diagnosis and treatment of increasingly complex or severe diseases. The cutting-edge Bumrungrad Genomics Innovation and genetic technologies for preventative healthcare, such as genetic testing, are being put to use in our hospital to bring about changes in patient care in this new era of precision medicine. This further demonstrates the commitment of Bumrungrad to the unceasing development of our body of knowledge and the search for innovations and appropriate technologies that will allow us to deliver the highest quality treatment and care possible to our patients.

The “Preventive Genomics and Family Check-up Services Center” has now been open for one year and has received rave reviews and excellent feedback from patients, exceeding the expectations of both Thai nationals and international visitors who have traveled to receive our services. This video is just one example:

The Center can accommodate all types of service recipients, as we have genetic specialists with international training and certification from organizations such as the American Board of Medical Genetics and Genomics, specialist physicians in all fields, nursing professionals, pharmacists, medical technicians, and more than 40 multidisciplinary professionals working together under the One-Stop Service concept, thereby providing targeted, individualized, and genetically-accurate treatments. As an example, statistics show that 17-18 percent of Thai people have genetic risk factors for drug allergies, and those in this group may or may not develop said drug allergies, depending on 2 main factors: 1. They have the at-risk genes, and 2. They get sick and take drugs they are allergic to. Another group is cancer patients who, even after dose adjustment, may not respond to drugs at all. Without genetic testing, doctors would not know whether their patients were responding to treatment or not, or they would become aware only after the patient returns or relapses, thus wasting the patient’s time, finances, and opportunities for improving their quality of life.

In addition, Bumrungrad is using Trakcare as patient health information management system that links Electronic Medical Record (EMR) data throughout the entire hospital system. In cases where a doctor is prescribing medication to their patient, the system will display an immediate notification on the screen to help prevent the doctor from prescribing any drug to which the patient has allergic reactions. A portable genetic test result card can also be issued to doctors in other hospitals where the patient is receiving treatment. At Bumrungrad, we consider high quality and effective treatment administered to international standards and in accordance with the highest levels of patient safety to be of the utmost importance.

Compiled by Assistant Professor Dr. Polakit Teekakirikul
Cardiology & medical genetics consultant


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