Technologies to identify gene mutations

Today we are going to talk about how to identify a disease? Class two.

And the core for today’s talk is to identificationof the mutation which is the advantage technology to ID a personal disease. My name is Shian-Ying Sung and we are located in Taipei Medical University. The order of today’s talk, including the 1st introduction, the old technology in ID single gene mutation, new technologies in ID gene mutation, and finally, we will discuss some of the advantages and disadvantages of ID gene mutation and future gene therapies.

Current therapies are used a set of drug that are for most common disease and target to a large of understanding specific genes. However, for each individuals, the development of disease specifically for a rare and and lethal diseases. Common target are still not enough. This is due to a variation in each individual even during the disease progression. Therefore, identification of specific differences in individuals and targeting to these individual variations is a core for precision medicine and eventually will develop into a personal medicine for every single person to cure the diseases. Even the same disease could be a different strategy of the therapy due to a different person. DNA sequence is old technology to identify mutation.

DNA sequence is a process of determination the precise order of the nucleotide within DNA molecule. It including any method or technology that is used to determine the order of the 4

bases: Adenine, guanine, cytosine, and thymine, in the string of the DNA. The advantage of the rapid DNA sequence methods has greatly accelerate biology and medical research and discovery. Knowledge of the DNA sequence has become indispensable for basic biology research and numerous applied field such as medical diagnosis, biotechnology, forensic biology, virology, biological systemics. The rapid speed of the sequence attempt with a mode of DNA sequence to knowledges has been instrumental for the sequencing of a complete DNA sequence or genome of numerous type of species of life, including human genome and other complete DNA sequence or many animal, plant, and micro biospecies.

However, due to a large number of DNA information, the traditional DNA sequence technology to determine a fragment of DNA mutation is out of date. As mentioned later today, that a new technology of DNA sequence has emerged to monitor personal information and disease development. Today we will focus on 3 new technologies. First, we will focus on the whole genome sequence. Second, the whole exome sequence, and finally we will discuss about the genome wide associated studies. For the whole genome sequence during the whole genome research, collect DNA samples and then determine the identity of the 3 billion nucleotides that compose of human genome.

The very first human genome sequence is completed in 2003 as part of the human genome project which has formally started in the 1990. Today, sequence technology is much more efficient and human genome can be sequenced in a matter of days in under 10,000 US dollars. The first human genome sequence cost about 2.7 Billion US dollars. Today, most genetic test focus on only one or few genes whether than an entire genome. However, with the affording cost of the genome sequence more individuals are pursuing this option and physician can look at an entire genome to see how specific treatments for a disease will be affected by an individual unique genetics.

For example, a physician may be up to look at a gene involved in the drug metabolism but deciding the dosage of the drug. In the future, whole genome sequence may be enable everyone to develop a personal treatment plan. The advantage for the whole genome sequence

including as follows: first, creating a personalized plan to treat disease may be possible based not only on the mutation genes cause a disease but also other genes in patient’s genome. Genotyping cancer cells and understanding what genes are mis-regulated allows physicians to select the best chemotherapy and potential is most patients to less toxic treatments since the therapy is custom made. Previous unknown genes may be identified as a contributing to a disease states. Traditional genetics testing look only the common troublemaker genes. Lifestyle environmental changes that can mediate effects of the genetic tendency may be identified and then moderate. However, there are some of the disadvantage for the whole actual sequence.

First, the role for most of the genetic in the human genome is still unknown or incompletely understood. Therefore, a lot of the information from in human genome sequence is unusable at present. Most physicians are not trained to understand how to read the genome data. Therefore they are not understand what are these information meaningful. For individual, genome may contain the information that they do not want to know at present. For examples , a patient has a genome sequence performing to determine the most effective treatment plan for high blood pressures. In the process, researchers discovered an unrelated allele, assume, a terminal disease with no effective treatment to these patient. This may cause a panic to these patient.

Finally, the volume of the information contained in the genome sequence is so large, the policy and the security measures to maintain the privacy and safety of this information are still new to everyone.