what is it?
Genome Sequencing is a new powerful tool used for detecting hidden genetic risks for a range of rarer health conditions. Recently, it has proven to be particularly helpful in detecting neurological illnesses in children.
how does it work?
Genome Sequencing works by first sequencing all of the patient's genes, and thus systematically searching for disease-causing mutations that may be present. It involves a technique known as electrophoresis (the motion of charger particles in a fluid due to the influence of an electric field). In this way, it is a useful method in diagnosing illnesses.
how is technology incorporated into it?
As stated above, the process of Genome Sequencing employs a technique called electrophoresis to separate pieces of DNA that differ in length by only one base. (http://www.genomenewsnetwork.org/resources/whats_a_genome/Chp2_2.shtml)
Until three decades ago, the process of reading electrophoresis gels was always read by person. In this way, it often risked human error as well as being slow and tedious. Nowadays, automatic sequencing machines are utilised to do the job. Being much quicker and more reliable, they can produce a rough draft of a sequence in a few hours, much more faster than a human could!
Until three decades ago, the process of reading electrophoresis gels was always read by person. In this way, it often risked human error as well as being slow and tedious. Nowadays, automatic sequencing machines are utilised to do the job. Being much quicker and more reliable, they can produce a rough draft of a sequence in a few hours, much more faster than a human could!
in what ways will it contribute to our society?
Until recently, the Genome Sequencing test was fairly costly and often used as a last resort option for testing for disease. Now, these tests are more affordable, and demand has increased. According to Baylor College of Medicine, the demand for Genome Sequencing has soared- when the trial program began in November 2011, scientists there were analysing 5 to 10 DNA sequences a month. More recently, they have been doing over 130 analyses a month.
Evidently, with more people utilising Genome Sequencing, there is a greater likelihood of understanding and diagnosing the health conditions that exist today. The test is transforming the lives of patients and families who until now, had often spent months and years searching for answers. With Genome Sequencing tests now developed, the diagnosis could potentially open a better avenue of life for sufferers.
It must be realised that Genome Sequencing is not the ultimate solution for detecting disease. The test only finds a genetic flaw in about 30% of cases. About 3% of people end up with a better management of their disorder and 1% are able to get treatment with a major benefit from Genome Sequencing.
Despite this, Genome Sequencing is another modern advancement in medical technology that holds some promise for people who suffer from rare neurological diseases. Even if there is no treatment for a certain patient, their families are able to identify the cause of the illness and better manage their condition. From there, it is very possible for a prognosis to be made. Another benefit is that families may also learn if subsequent children may be at risk of the same or similar neurological disorder.
Evidently, with more people utilising Genome Sequencing, there is a greater likelihood of understanding and diagnosing the health conditions that exist today. The test is transforming the lives of patients and families who until now, had often spent months and years searching for answers. With Genome Sequencing tests now developed, the diagnosis could potentially open a better avenue of life for sufferers.
It must be realised that Genome Sequencing is not the ultimate solution for detecting disease. The test only finds a genetic flaw in about 30% of cases. About 3% of people end up with a better management of their disorder and 1% are able to get treatment with a major benefit from Genome Sequencing.
Despite this, Genome Sequencing is another modern advancement in medical technology that holds some promise for people who suffer from rare neurological diseases. Even if there is no treatment for a certain patient, their families are able to identify the cause of the illness and better manage their condition. From there, it is very possible for a prognosis to be made. Another benefit is that families may also learn if subsequent children may be at risk of the same or similar neurological disorder.