Section 3: The Importance and Incorporation of Genetics in Personalized Medicine
What is Genetic Testing?
Genetic testing is a test that looks at an individual's proteins, genes, or chromosomes to determine if there have been any changes or mutations in coding sequences (1). Genetic testing is important because it identify the changes within the individual's genetic information and determine whether or not the individual has a particular medical condition or even the likelihood of the individual developing a certain disease or genetic disorder. When implementing genetic testing, you are not only helping an individual reach a solution or treatment plan, but you are also making sure the solution is tailored to the patient to ensure the best possible outcome.
Genetic testing is a test that looks at an individual's proteins, genes, or chromosomes to determine if there have been any changes or mutations in coding sequences (1). Genetic testing is important because it identify the changes within the individual's genetic information and determine whether or not the individual has a particular medical condition or even the likelihood of the individual developing a certain disease or genetic disorder. When implementing genetic testing, you are not only helping an individual reach a solution or treatment plan, but you are also making sure the solution is tailored to the patient to ensure the best possible outcome.
Methods of Genetic Testing
There are various methods of genetic testing. These methods include diagnostic testing, newborn screening, prenatal testing, carrier testing, pre-implantation testing, predictive and presymptomatic testing, and forensic testing (1). Diagnostic testing is the main testing avenue for personalized medicine in that it examines the chromosomes to determine whether or not an individual has a particular disease. Genetic diagnostic testing is an extra testing step when someone may be sick to confirm whether or not the individual has a particular illness. There is not a particular age in which an individual must undergo genetic test, and patients who receive genetic testing may be infants, adults, or any age in between (1). Going through genetic diagnostic testing places more power in the hands of the individual, allowing them to get a glance into how his or her genes affect his or her health. Diagnostic testing does not account for every single gene or condition, so unfortunately, some diseases may be beyond the control of genetics (1). When studying the likelihood of developing a disease that may run in the family, it is important to look at the genes of the individual in order to try and develop the likelihood of the individual also getting the disease that runs in the family.
There are various methods of genetic testing. These methods include diagnostic testing, newborn screening, prenatal testing, carrier testing, pre-implantation testing, predictive and presymptomatic testing, and forensic testing (1). Diagnostic testing is the main testing avenue for personalized medicine in that it examines the chromosomes to determine whether or not an individual has a particular disease. Genetic diagnostic testing is an extra testing step when someone may be sick to confirm whether or not the individual has a particular illness. There is not a particular age in which an individual must undergo genetic test, and patients who receive genetic testing may be infants, adults, or any age in between (1). Going through genetic diagnostic testing places more power in the hands of the individual, allowing them to get a glance into how his or her genes affect his or her health. Diagnostic testing does not account for every single gene or condition, so unfortunately, some diseases may be beyond the control of genetics (1). When studying the likelihood of developing a disease that may run in the family, it is important to look at the genes of the individual in order to try and develop the likelihood of the individual also getting the disease that runs in the family.
Human Genome Project
The Human Genome Project was first started in 1988 by the U.S. National Academy of Science with the hopes of sequencing the whole genome of a human, and the hope to create a physical and genetic map of the genome. A genome is the full set of DNA in an organism. Luckily the initial goals of the project were met by the mid 1990s with not just a human but a mouse as well. The full sequencing of the human genome now allows scientists to use the human genome for their research and also allows geneticist treating a patient to use an individual's genetic information as an extra aid when coming to a conclusion about a particular disease or even just how that disease can be treated today. |
Genome Sequencing
Genome sequencing involves figuring out the order of the base pairs within an organism's DNA. In order to make the sequencing of the genome less taxing, the scientists involved only had to report one of the base pairs rather than both because each base had a unique complementary pair that went along with it. For example, A is paired with T and C is paired with G. Sequencing ones genome opens the flood gates to a great amount of information from your genes. A fairly recent company, 23andMe, takes advantage of genetic testing by sequencing certain sections of an individual's genome and providing them with information seen from looking at these specific sequences. Through 23andMe, individuals can receive information about their nationality and ancestral genetic makeup, and in the past, individuals could even look at the likelihood of the individual developing a particular disease. The breast cancer gene, BRAC1 is commonly used in determining the likelihood of developing breast cancer. |
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Genetic Risk Scores
Genetic risk scores are used in determining the likelihood of developing a particular disease (2). The risk score does not guarantee that an individual will develop the disease in question, but it shows the predictability. The risk score can identify whether an individual is at high risk for the disease or at a lower risk (2). When looking at a cardiovascular disease, certain bio markers are looked at to see whether an individual is at high risk for cardiovascular problems. The number of risk scores is summed up to determine whether or not problems may arise in the future. Basically, professionals are developing a report of health risks using your genes. |
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Discussion Questions
1. What are some benefits and risks when it comes to genetic testing?
2. What information does sequencing your genome tell you?
3. Why should you look at your genetic risk score for a disease?
1. What are some benefits and risks when it comes to genetic testing?
2. What information does sequencing your genome tell you?
3. Why should you look at your genetic risk score for a disease?
Sources
1. Genetic Testing. (n.d.). Retrieved March 21, 2015, from http://ghr.nlm.nih.gov/handbook/testing?show=all#genetictesting
2. Diabetes. (n.d.). Retrieved March 22, 2015, from http://diabetes.diabetesjournals.org/content/59/11/2729.full
2. Diabetes. (n.d.). Retrieved March 22, 2015, from http://diabetes.diabetesjournals.org/content/59/11/2729.full