Genomics Medicine Center

Genomics Medicine Center

The Human Genome Project, launched in 1990 and completed 13 years later in 2003, was a stupendous undertaking by an international team of scientists to sequence the 3 billion base pairs of human DNAs, identifying and mapping all the genes that make up the entire human genome with the project price tag of 2.7 billion USD. The rapid advances in DNA sequencing technology drop the cost of whole genome sequencing to under 1000 USD with a turnaround time of 1-3 days. These advances make it economically viable for genetic diagnostics to enter clinical practice and open the door to personalized medicine, with treatments tailored to personal genetic profiles. Integration of genetic basis of disease knowledge with individual genomic data informs comprehensive healthcare management, encompassing risk prediction, disease diagnosis, personalized treatment planning, and precise prediction of genetic disease transmission from parents to their offspring and disease risk analysis in fetuses as early as the first week of gestation.
 
Genomic medicine benefited from the revolutionary breakthrough in DNA sequencing technology. It transforms healthcare from 'treatment after disease onset' to 'preventive intervention before disease manifestation' through DNA sequencing and bioinformatic analysis, enabling early identification of disease predisposition at its source. Furthermore, genomic medicine promotes personalized medicine, addressing individual patient needs while sustainably reducing long-term healthcare costs.

An exemplary case of leveraging genomic medicine to prevent and mitigate the risks of genetic diseases that captivated global attention is that of the renowned actress Angelina Jolie. She underwent genetic testing and discovered she carried a mutated BRCA1 gene, which significantly increases the risk of developing breast and ovarian cancers. The gene testing result indicated that she had an 87% lifetime risk of breast cancer, akin to her mother, who passed away from the disease at age 56. To reduce this substantial risk, she chose to undergo a preventive double mastectomy (prophylactic mastectomy), which successfully lowered her lifetime breast cancer risk to just 5%. Later, she also underwent an ovariectomy (removal of the ovaries and fallopian tubes), as the BRCA1 mutation also increased her risk of ovarian cancer. Her decision exemplifies how genetic information can effectively inform decisions to prevent disease and safeguard health.

The application of genomic medicine knowledge, which involves understanding the structure and function of DNA, plays a pivotal role in various aspects of healthcare, including:

• Family planning encompasses genetic screening before conception, prenatal testing for fetal abnormalities, and assisted reproductive technologies.
• Risk assessment for future diseases such as cancer, cardiovascular diseases, and type 2 diabetes.
• Diagnosis of genetic disorders such as thalassemia, muscular dystrophy, and chromosomal number abnormalities like Down syndrome. 
• Personalized medicine. Genetic testing aids in tailoring treatment plans, including selecting and dosing medications to suit the unique genetic profile of individual patients.
• Preventive health planning. Genetic risk identification allows for proactive measures such as lifestyle modifications, regular screenings, or preventive surgeries, such as for individuals with BRCA gene mutations.

At MedPark Hospital, we leverage personalized medicine to deliver comprehensive healthcare solutions that address every dimension of health.

Why Genomics Laboratory at MedPark Hospital? 

• Internationally Recognized Medical Specialist Team: Providing expert care and consultation in genomic medicine by highly experienced specialists with international accreditation. These specialists collaborate seamlessly with other relevant medical professionals to ensure efficient, accurate, and timely diagnoses.
• Genetic Analysis by Skilled Technicians: Skilled genomics technicians with extensive experience in genomic laboratories conduct genetic testing and reporting. Certified by the Medical Technology Council, they bring over 20 years of expertise in Next-Generation Sequencing (NGS) technology. Additionally, they serve as consultants to the World Health Organization (WHO) on In Vitro Diagnostic Assessment. 
• Comprehensive Pre- and Post-Test Counseling: Provided by specialized registered nurses in genomic medicine who have undergone extensive training and hold certifications as qualified genetic counselors. They deliver accurate and appropriate information to support informed decision-making regarding genomic medical services.
• International Standard Laboratories: We design our laboratories meticulously following Unidirectional Flow principles to minimize contamination risks. We maintain environments that adhere to biosafety standards and are in the process of obtaining ISO 15189, ISO 15190, and CAP (College of American Pathologists) accreditations.
• International Collaboration: Partnering with Northwestern Medicine at Northwestern University, Illinois, USA, to develop world-class laboratories for cancer genomic testing, encompassing both prevention and treatment.
• Cutting-edge Technology for Precise Results: Implementing Next-Generation Sequencing (NGS) technology enables comprehensive, detailed, and rapid DNA and RNA sequencing, complemented by advanced bioinformatics and AI systems to analyze large-scale data, ensuring precise diagnostics while maintaining stringent personal data security protocols.
• Clear and Easy-to-Understand Genetic Test Reports: Enabling effective family planning, health management, and disease treatment with optimal outcomes.

Diseases and Disorders

• Genetic mutations of underlying various diseases, such as thalassemia, cystic fibrosis, and muscular dystrophy. Whereas Down syndrome stemming from chromosomal aneuploidy can profoundly impact health.
• Personalized genetic health risks for specific malignancies such as breast and ovarian cancers, cardiovascular diseases like coronary artery disease, and neurological disorders including Alzheimer's and Parkinson's diseases.
• Pharmacogenomics is the discipline of identifying genetic variations that influence drug metabolism and medication clinical effects. For instance, patients with mutations in the CYP2C19 gene may exhibit altered responses to specific antibiotics. The application of pharmacogenomic knowledge enhances treatment efficacy while minimizing side effects.
• Disease insights provide a deeper understanding of disease mechanisms at the molecular level, such as the pathophysiology of type 2 diabetes.

Genomic Medicine Diagnostic Services

• Genetic testing for family planning helps couples or individuals planning to have children understand the risk of passing on genetic disorders to their offspring. These tests are pivotal in identifying the risks of various conditions arising from genetic or chromosomal abnormalities. Popular and highly accurate tests include:
  • NIPT (Non-Invasive Prenatal Testing) involves genetic screening for chromosomal abnormalities in the fetus through simple maternal blood testing for circulating fetal DNA. NIPT significantly reduces the risk of missing conditions such as Down syndrome and other chromosomal disorders while minimizing the likelihood of miscarriage.
  • PGT-A (Preimplantation Genetic Testing for Aneuploidy) can screen and diagnose chromosomal abnormalities in embryos before transferring into the uterus. This step is a crucial component of in vitro fertilization (IVF) for infertile couples.
• Additional advanced diagnostic services will be available to enhance the comprehensive care provided through personalized medicine. These include hereditary cancer screening, gene panel testing, pharmacogenomics, and genome sequencing for personalized medicine.

Expertise

• Analyze genetic information to develop more precise and personalized treatment plans, including tailoring medication types and dosages to each patient. This approach optimizes treatment efficacy, reduces side effects, and accelerates recovery.
• Devise treatment strategies for complex diseases using genetic information, enabling the identification of risk factors at an early stage. The approach facilitates the design of highly effective treatment plans for genetic disorders requiring specialized care.
• Plan long-term patient care using genetic data while collaborating with specialists across various fields, ensuring that evolving complex diseases receive continuous and appropriate management.
• Utilize gene sequencing technologies integrated with clinical-based research to drive innovative diagnosis, analysis, and development of novel treatment approaches, fostering the advancement of personalized therapies and enhancing the quality of life for patients in the future.