Genetic testing is a valuable medical tool for assessing a variety of inheritable diseases, conditions, and cancers. The ability to diagnose patients prior to the onset of symptoms can help to reduce the severity of symptoms and improve quality of life.
Can genetic testing aid in disease prevention?
Changes (mutations) in your genes that may cause illness or disease can be revealed by genetic testing. Although genetic testing can provide useful information for diagnosing, treating, and preventing disease, it has limitations.
Examining your DNA, the chemical database that contains instructions for your body’s functions, is part of genetic testing. Changes (mutations) in your genes that may cause illness or disease can be revealed by genetic testing.
Although genetic testing can provide useful information for diagnosing, treating, and preventing disease, it has limitations. For example, if you are healthy, a positive genetic test result does not always imply that you will develop a disease. On the other hand, in some cases, a negative result does not guarantee that you will not develop a specific disorder.
Speaking with your doctor, a medical geneticist, or a genetic counselor about what you plan to do with the results is an important step in the genetic testing process.
Sequencing of Genomes
When genetic testing does not result in a diagnosis but a genetic cause is suspected, some facilities offer genome sequencing, which is a process that analyzes a sample of DNA taken from your blood.
Everyone has a unique genome, which is made up of the DNA in all of their genes. This complex testing can aid in the identification of genetic variants that may be related to your health. Typically, this testing is limited to only looking at the protein-encoding parts of DNA known as the exome.
Why is it done?
Genetic testing is important in determining the risk of developing certain diseases, as well as screening and, in some cases, medical treatment. Different types of genetic testing are performed for various reasons:
* Diagnostic examination. If you have symptoms of a disease that could be caused by genetic changes, also known as mutated genes, genetic testing can determine whether or not you have the suspected disorder. Genetic testing, for example, may be used to confirm a diagnosis of cystic fibrosis or Huntington’s disease.
* Predictive and presymptomatic testing. If you have a family history of a genetic condition, genetic testing before symptoms may reveal whether you are at risk of developing that condition. This type of test, for example, may be useful in determining your risk of certain types of colorectal cancer.
* Carrier evaluation. If you have a family history of a genetic disorder, such as sickle cell anemia or cystic fibrosis, or if you belong to an ethnic group that is predisposed to a particular genetic disorder, you may want to have genetic testing before having children. An expanded carrier screening test can detect genes linked to a wide range of genetic diseases and mutations, as well as determine whether you and your partner are carriers for the same conditions.
* Pharmacogenetics. If you have a specific health condition or disease, genetic testing may help you determine which medication and dosage will be most effective and beneficial for you.
* Prenatal screening. When you’re pregnant, tests can detect some types of genetic abnormalities in your baby. Down syndrome and trisomy 18 syndrome are two genetic disorders that are frequently tested for during prenatal genetic screening.
Traditionally, this is done by looking at blood markers or through invasive testing such as amniocentesis. A newer test known as cell-free DNA testing examines a baby’s DNA through a blood test performed on the mother.
* Newborn examination. This is the most widely used type of genetic testing. All states in the United States require newborns to be tested for genetic and metabolic abnormalities that cause specific conditions. This type of genetic testing is important because if the results reveal a disorder such as congenital hypothyroidism, sickle cell disease, or phenylketonuria (PKU), care and treatment can begin immediately.
* Preimplantation genetic testing. This test, also known as preimplantation genetic diagnosis, may be used if you are attempting to conceive a child through in vitro fertilization. The embryos are examined for genetic flaws. In the hopes of achieving pregnancy, normal embryos are implanted in the uterus.
Genetic testing during pregnancy
If you’re pregnant or planning to become pregnant, genetic testing can give you a better understanding of your own and your baby’s health.
Some tests can detect medical conditions in babies while they are still in the womb. Others examine their DNA to see if they are predisposed to certain genetic diseases. Even before pregnancy, genetic carrier screenings can examine the mother’s and father’s genes to determine the likelihood that their child will be born with a genetic disorder.
Most of the tests are optional, but they can help you make health decisions and prepare for your baby’s arrival.
Pregnancy screenings can provide valuable information before the birth of your child. Genetic screenings, for example, can determine your baby’s risk of certain birth defects. Down syndrome, trisomy 18, spina bifida, and other birth defects are examples of this.
Genetic testing risks
In general, genetic tests pose little physical danger. Blood and cheek swab tests are virtually risk-free. Prenatal testing, such as amniocentesis or chorionic villus sampling, does, however, carry a small risk of pregnancy loss (miscarriage).
Emotional, social, and financial risks can all be associated with genetic test. Before having a genetic test, discuss the risks and benefits with your doctor, a medical geneticist, or a genetic counselor.
If you’re really decided, at 24Genetics, they will deliver your test kit to your home and take care of everything, regardless of where you live.