Genetic Testing: Its Effects on Disease Diagnosis, Prevention, and Treatment

By: Ellen Choe

 Imagine being able to use DNA to diagnose an unborn baby’s disease from a pregnant

mother. Well, in today’s society it is possible through DNA testing. Genetic testing, specifically,

has become a popular method of examining DNA, having previously been primarily

biochemically focused. Deoxyribonucleic acid, or DNA, is a molecule that carries genetic

information. Genes, which are made up of DNA, are in the form of a code which is made up of

adenine (A), guanine (G), cytosine (C), and thymine (T) that give instructions for the creation of

a certain protein. If a protein is made incorrectly, it can cause health problems and lead to

diseases and conditions. The genetic information found in DNA also includes the transmission of

inherited traits. These inherited traits allow for paternity testing, solving criminal investigations,

ancestry mapping, and, most recently and importantly, genetic testing. Genetic testing is a type

of test that identifies changes chromosomes, genes, and proteins. There are many different types

of genetic tests that could be done: clinical, diagnostic, presymptomatic, carrier, prenatal,

newborn, pharmacogenomic, and research genetic. All of these types of tests are done for

differing purposes and have different benefits for patients. Though genetic testing has recently

become more popular, it is also a very controversial subject as some believe there are many

problems with it; however, there are many pros to using it as well. Genetic testing is a beneficial

method of testing because it allows for diagnosing conditions, the formation of better

preventative measures, and the creation of tailored treatment plans.

DNA can be used to diagnose symptoms through genetic tests. More specifically, it is

called a diagnostic test, which is done to find the cause of a disease or symptom. It is also used to

identify, confirm, or rule out possible genetic or chromosomal conditions. Though many diseases

have many factors to their cause, “diseases such as Huntington’s disease, cystic fibrosis, sickle

cell anemia, Tay-Sachs disease and Down syndrome are purely genetic” (Steakley). These
diseases are passed down from parents to children, outside factors having no impact on the

disease. For Huntington’s disease, an inherited progressive neurological disorder, a blood test

will indicate the presence of a mutant huntingtin gene. This mutant gene repeats its base

sequence “CAG” fourty to more than sixty times, rather than the normal eleven to twenty-nine

times, which results in clumping in the brain and nearby nerve cells dying. In a cystic fibrosis

patient, there must be two mutated copies of the cystic fibrosis transmembrane conductance

regulator (CFTR) gene inherited, one from each parent. Because it is a recessive gene, it will

only appear if both parents have passed down the mutation. In sickle cell anemia, two abnormal

hemoglobin genes are inherited, one from each parent, which causes the body to produce

hemoglobin SS. For Tay- Sachs disease, it is caused by mutations in the HEXA gene, whose job

is to provide instructions for making the enzyme beta-hexosaminidase A. The disruption of this

enzyme creates a buildup of a fatty substance called GM2 ganglioside, which leads to the

destruction of neurons in the brain and spinal cord. Down Syndrome occurs when an every cell

in an individual’s body has a full or partial extra copy of chromosome 21. So instead of having

46 chromosomes, 23 from each parent, they have an extra. For the most part, all of these diseases

and conditions can only be truly diagnosed through testing for mutations in genes or

chromosomes. This need demonstrates the necessity and importance of genetic testing for

diagnosing conditions.

Genetic testing is also beneficial in creating better preventative plans. In order to

determine if an individual has genetic predisposition to a disease, or is more at risk or prone to

getting a disease, there is a presymptomatic genetic test. Presymptomatic tests are used before

you have symptoms to figure out how at risk you are for the future. A person’s genes are tested

for certain diseases to see what their risk is for that disease based on their family history;
however, both genetics and behavior are factors. For babies, prenatal tests and newborn screens

can be done to determine if the baby will have a disease. Also, parents can test if they are carriers

of a DNA variants, or genetic variations, that could be passed down to their children, through

carrier tests. People who are found to be higher at risk are more susceptible to having the disease

in the future, though it does not mean that people who are at low risk or normal risk will not get

it and should not be careful. People who are found to be at higher risk of certain types of cancers

including “breast cancer, hereditary non-polyposis colon cancer, familial adenomatous polyposis,

and prostate cancer” are able to implement “risk management strategies . . . years before cancer

develops, with the potential to reduce mortality” (Marteau and Lerman). With the knowledge of

higher risk, the individual is able to change their lifestyle specifically to try to prevent getting the

disease. For example, people who have a family history of breast cancer and are at higher risk

usually are advised to be more vigilant in getting their mammography exams and some even get

a mastectomy to reduce their risk. Another example are smokers who are at high risk of getting

lung cancer. It was found that “[s]mokers who had genetic testing showed positive changes in

perceptions of risk and beliefs about quitting” (Marteau and Lerman). Another disease that has

many preventative measures that can be taken to reduce risk is Type 2 diabetes. Speaking of

preventative measures people at risk of Type 2 diabetes can take, Steakley says, “If one has two

or three of the genes that predispose them to Type 2 diabetes, they should watch their weight,

exercise regularly and have their blood glucose measured routinely” (Steakley). By watching

their weight, exercising on a regular basis, and getting their blood glucose checked, a person can

reduce their risk and, at the very least, not add to it. By testing their genes, a person is able to

discover what diseases they have a genetic predisposition to and, in turn, create a strategy of

prevention that will specifically modify their lifestyle in order to reduce their risk.
 Through genetic testing, a plan of treatment can be made to meet every individual’s

needs based on their DNA. There is a type of genetic test called the Pharmacogenomic test that

uses a person’s DNA variants to determine the best medication and dose for the individual.

Genetic testing can be done to determine whether or not an individual is more likely to get

addicted to opiates. It is important to “identify individuals who have the potential to develop

aberrant drug use both prior to prescribing opioids and while actively undergoing this

treatment” (Meshkin). If a patient is more likely to get addicted to opiates, their treatment could

be changed to reduce the risk and have a safer outcome. Explaining the role genetics has on

deciding on drug prescriptions, Meshkin says, “Genetic studies suggest, however, that patients

with certain gene variants may require less morphine equivalent doses to achieve the same

analgesic response as wild type patients, obviously dependent on which opioid is utilized. In

addition, drug tolerance is associated in part with how medications interact and are metabolized

and genetic testing may provide information about the activity of enzymes involved in drug

metabolism” (Meshkin). Genetics have an effect on tolerance of drugs as well as the amount

needed to achieve a certain response. It varies from patient to patient. Describing her personal

experiences with adjusting her medication to her genetics, Steakley says, “I am a type 2 diabetic

and by knowing the alleles of my specific genes that are associated with my disease, I have been

able to tailor my drug regime to best fit my genetic situation. It has also permitted me to

eliminate some of the more expensive diabetic drugs I really did not need and now I use only less

expensive generic drugs” (Steakley). By knowing the specific genes that are related to her Type

2 diabetes, she was able to specify her treatment to personally fit her. This specification allowed

her to understand which drugs were the most effective in working, and she now knows exactly

which ones she needs, which saves her money as she does not have to try different types to see
which one works the best. By knowing the specifics of the genes associated with the disease, the

individual is able to specify their treatment plan to what best fits their genes, as determined by

genetic testing.

DNA testing is being used in many ways in society currently. It is being used as forensic

evidence, to determine paternity, to find family trees, and for genetic testing. Genetic testing is

beneficial in that through it, doctors can diagnose patients based on their symptoms or

chromosomes and genes, individuals can implement prevention methods to reduce risk of

disease, and treatment plans can be specified to a patient to create the most effective plan of

medical care. As technology advances, genetic testing will continue to become more important in

health care and diagnosing diseases and conditions. People need to find out for themselves what

they are at risk for and how to prevent or treat it; what they do not know might kill them.
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