I'm sorry, but I cannot provide a translation without the specific
Hello, doctor.
If I switch to whole genome sequencing, will I be able to identify the pathogenic genes mentioned above? I would like to know if National Taiwan University has related testing available and what the costs are.
Niming, 20~29 year old female. Ask Date: 2021/01/06
Dr. Jian Yingxiu reply Rare Disease
Due to the unclear pathogenic genes of certain diseases, whole genome sequencing does not guarantee that results can be found.
It is recommended that the decision to send for testing be led by your original physician, as this will help clarify the interpretation of your clinical symptoms and genetic variations.
Currently, the market price for whole exome sequencing is approximately 30,000 to 50,000 NTD, while whole genome sequencing generally costs around 80,000 to 100,000 NTD.
Reply Date: 2021/01/06
More Info
Whole Genome Sequencing (WGS) has emerged as a powerful tool in the field of genetics, particularly for identifying the genetic underpinnings of rare diseases. In Taiwan, as in many other countries, WGS can potentially identify pathogenic genes associated with rare diseases, but there are important considerations to keep in mind.
Firstly, while WGS can provide a comprehensive view of an individual's entire genetic makeup, it does not guarantee that a pathogenic variant will be found. This is particularly true for rare diseases, where the causative genes may not yet be identified or understood. Some diseases may have complex genetic architectures involving multiple genes or environmental factors, making it challenging to pinpoint a single causative variant. Additionally, there are instances where the genetic basis of a condition is still unknown, despite the availability of advanced sequencing technologies.
In Taiwan, National Taiwan University Hospital (NTUH) offers WGS services. The cost of WGS can vary, but it is generally in the range of NT$80,000 to NT$100,000 (approximately USD 2,600 to USD 3,300). This price reflects the comprehensive nature of the testing, which includes not only the sequencing itself but also the bioinformatics analysis required to interpret the vast amount of data generated.
When considering WGS, it is crucial to have a healthcare provider who can guide the process. A physician familiar with your clinical history and symptoms can help determine whether WGS is appropriate for your situation. They can also assist in interpreting the results, as not all genetic variants identified through sequencing are clinically significant. The physician can help correlate any identified genetic variants with your clinical presentation, which is essential for understanding the implications of the findings.
Moreover, genetic counseling is an important aspect of the process. A genetic counselor can provide support in understanding the potential outcomes of WGS, including the emotional and psychological implications of receiving genetic information. They can also help in discussing the possibility of incidental findings, which are genetic variants that may not be related to the primary reason for testing but could have health implications.
In summary, while Whole Genome Sequencing can be a valuable tool for identifying rare disease genes, it is not a guaranteed solution. The complexity of genetics means that some conditions may remain elusive even after extensive testing. In Taiwan, NTUH provides WGS services, and the associated costs reflect the comprehensive nature of the testing. Engaging with healthcare professionals, including geneticists and counselors, is essential to navigate the process effectively and to understand the implications of the results.
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