What Information Can You Learn From Genetic Testing?
What Is Genetic Testing?
Genetic testing looks at specific markers to determine a person’s risk of developing diseases. Getting a genetic test can help your doctor:
- Find the cause of your disease/symptoms;
- See if you’re at risk of developing future diseases;
- Inform you whether or not a disease could be passed down to your children;
- Find the best treatment;
- Provide better counseling.
What exactly happens after a person submits their DNA sample?
- DNA Is Prepared: The lab gets the DNA and preps it for testing.
- DNA Is Sequenced: Depending on the type of test, there is a possibility that the lab will put the sample on a machine called a DNA sequencer. This machine reads the DNA and collects data known as short “reads” that represent a tiny portion of the total DNA sequence. Sequencing tests read the DNA, scanning for any mutations in the DNA strands. These test scans can provide detailed information about specific genes and DNA variants.
DNA Is Analyzed: Computers put together all of the information that has been acquired up to this point and compares the DNA sample to a human reference genome. The lab will then get a report that lists any variants in the DNA.
Types of Genetic Testing
Genetic testing is conducted in many ways and for many different reasons including:
- Carrier testing: Used to identify those who carry a single copy of a gene mutation that, when present in two copies, causes a genetic disorder such as sickle cell disease.
- Diagnostic screening: Used to identify a specific genetic disorder in someone based on their symptoms, like Down syndrome.
- Forensic testing: Uses DNA to identify a person for legal cases for example, identifying human remains. It can even be used to figure out the paternity of a child.
- Newborn screening: This is done right after birth to identify genetic disorders that can be treated early on in life, like the cystic fibrosis heel prick test in the UK.
- Predictive testing: Used to detect genetic mutations associated with disorders that appear later in life, such as breast cancer, female or male pattern baldness. .
- Pre-implantation testing: This form of testing is available for couples who are at risk of having a child with a genetic or chromosome disorder, such as Huntington’s disease.
- Prenatal testing: This type of testing is offered during pregnancy if the baby has an increased risk of developing a chromosomal or inherited disorder.
Benefits of Genetic Testing
Purchasing the top DNA test kits has increased in popularity because they are helping people feel more informed about their genetic makeup and giving them the results they’ve been waiting to hear, whether they be positive or negative. The reason behind why someone needs the kit will vary along with the results they’re looking for. Aside from providing their clients with answers, genetic testing has many benefits.
Ancestry and Ethnicity
If you aren’t sure about where your family comes from, taking a DNA test might help. They often allow their users to learn about their ethnic background, where their family came from, and in some cases, different people from the past that they may be related to. Learning about your ethnic background can spark conversation about your family history and teaches you about your family’s past that you never knew.
Genetic predisposition is the increased chance of developing a disease or conditions due to the presence of one or more gene mutations and/or a family history that indicates an increased risk. This can cover everything from heart disease, to weight gain, or balding. However, even though it may be a genetic predisposition, preventing hair loss is possible. It is important to note that a predisposition is not an exact diagnosis, and that further testing may be done to better clarify results.
Genetic testing can help with the detection of disease within a person, both early on in life and later. In fact, the Food and Drug Administration (FDA) approved DNA tests for 10 different diseases:
- Parkinson’s disease;
- Late-onset Alzheimer’s disease;
- Celiac Disease;
- Alpha-1 antitrypsin deficiency;
- Early-onset primary dystonia;
- Factor XI deficiency;
- Gaucher disease type 1;
- Glucose-6-Phosphate Dehydrogenase deficiency;
- Hereditary hemochromatosis;
- Hereditary thrombophilia.
Drawbacks of Genetic Testing
Even though genetic testing has multiple benefits, it’s important to be aware of the drawbacks that are bound to follow.
Genetic discrimination is when people are discriminated against based on their genetics. Some fear that when they participate in genetic testing this may happen to them. These fears might also persuade people not to participate in genetic studies or testing that is necessary to continue to develop new tests. The Genetic Information Nondiscrimination Act was created in 2008 to prevent this from happening.
May Not Be Accurate
The most common question that is asked in regards to genetic testing is their accuracy. Since DNA test companies don’t release their data, scientists aren’t able to evaluate their accuracy and validate their testing methods. Experts are torn when it comes to believing the results — some do, and some don’t.
When you provide a company with your DNA you are providing them with your genetic code. Understandably, this can be nerve wracking. There have been a few cases of security breaches with big-name genetic test sites, resulting in millions of people having their identity and associated genetic data compromised. Some people also might question the security of their family’s secrets and whether or not someone else is able to steal their identity using their DNA.