People often turn to genetic testing to investigate possible health conditions that run in families or even explore their own family history and heritage.
With advancements in technology, genetic testing is becoming more precise and more affordable than before. This opens it up to a wider range of people seeking answers to questions about their health and family.
This article will describe the clinical and research purposes of genetic testing, the health conditions it may help detect, and what you may want to consider when talking with your healthcare team about this type of testing.
Genetic testing can also measure results of gene changes, like an RNA analysis of a gene’s expression. It may analyze and measure the specific makeup of a certain gene, in order to help better identify the particular genetic makeup that might be shared with others or signal a possible health concern.
There are many uses for genetic testing. It can help people plan for the future by telling them the likelihood of developing a specific health condition.
It can also be used to help diagnose rare genetic conditions or to get information for better
People may opt to have genetic testing done during pregnancy to rule out specific hereditary conditions, such as Down syndrome or potential problems with the unborn child’s number of sex chromosomes.
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Genetic testing can also be used to broadly trace one’s ancestry and ethnicity or to provide information about biological parents and close relatives.
Clinical genetic testing aims to find out about any likelihood of an inherited genetic condition in a particular person and/or their family. These results are added to the medical record, and they can help inform people about the best course of treatment or prevention.
Research genetic testing, on the other hand, occurs when genetic testing is done on a person who volunteers for a clinical trial. The testing is done as part of a research study.
The outcomes of research-based genetic testing aren’t available to the participants or their doctors. The outcomes are also not added to anyone’s medical record, because they’re simply to help inform the research study.
People won’t personally benefit from this type of genetic testing, and it can’t be used to make individual diagnoses. But it does contribute to research.
Genetic testing isn’t required during pregnancy. But many people opt for it to rule out any life threatening conditions to the fetus or other chromosomal conditions, such as Down syndrome, trisomy 18 (Edwards syndrome), or trisomy 13 (Patau syndrome).
There are certain factors that may increase someone’s likelihood to opt for genetic testing, including:
- having certain hereditary conditions that you don’t wish to pass onto your children
- being 35 years or older, which is medically considered a “geriatric pregnancy”
Advanced maternal age increases the likelihood that the fetus may have chromosomal irregularities, and having genetic testing on the fetus can rule those out.
Genetic testing is available for the following types of cancer:
- breast cancer
- ovarian cancer
- colon cancer
- thyroid cancer
- prostate cancer
- pancreatic cancer
- melanoma (skin cancer)
- kidney cancer
- stomach cancer
Getting genetic testing for cancer can help you predict your risk of developing a certain type of cancer, but it doesn’t predict that you will or won’t develop any type of cancer.
It may, however, find out if you have genes that may pass an increased cancer risk onto your children (the BRCA gene for breast cancer, for example).
Even someone who has a high likelihood of developing breast cancer if they have the BRCA1 or BRCA2 variant may never develop the disease. Also, someone who doesn’t have these gene mutations may go on to develop breast cancer in their lifetime.
Having access to that information may help you make informed decisions about healthcare procedures and genetic testing to detect possible cancers.
Genetic testing can’t detect or help diagnose all conditions, such as autism. However, genetic testing can be used to help predict or assess one’s risk for
The following conditions can be genetically tested in utero:
- cystic fibrosis
- Tay-Sachs disease
- sickle cell anemia
- Down syndrome and other chromosomal irregularities
- spina bifida
- Turner syndrome
- Von Willebrand disease
- Duchenne muscular dystrophy
While there’s no genetic test for diabetes, children who have a sibling with type 1 diabetes may opt for an antibodies test that measures the antibody response to insulin, the islet cells in the pancreas, or to an enzyme called glutamic acid decarboxylase (GAD).
High levels indicate that a child has a higher likelihood of developing type 1 diabetes, but it doesn’t guarantee that they’ll develop type 1 diabetes.
Talk with your doctor if you’re interested in getting genetic testing either for you or your children. If you’re pregnant, you may want to opt for genetic testing for your baby, especially if any of the previously mentioned conditions run in your family.
Genetic testing can either be done at home with a saliva sample or in a laboratory, with a small blood sample.
In pregnant people, genetic testing is usually done via amniotic fluid through amniocentesis, or the placenta, through chorionic villus sampling (CVS).
Testing can also be done directly on the embryo during in vitro fertilization (IVF). Results can take a few weeks after samples are drawn.
You should consider genetic testing if there’s a particular condition that runs in the family and you might be concerned about it materializing in your life.
Additionally, you may consider genetic testing if you want to learn what the risk is for a future pregnancy or to see if you’re a carrier of a genetic condition (or if your child is a carrier or has a genetic condition themselves).
It can guide treatment and prevention planning for you and your family, especially when it comes to cancer.
People who are at higher risk for having a child with a genetic condition may opt for genetic testing. This includes:
- people who have genetic conditions in close relatives
- parents who already have a child with a genetic condition
- pregnant people over age 35 who have received an abnormal prenatal screening test and want further testing
- people who have had two or more miscarriages
- people who delivered a stillborn baby with a genetic condition diagnosed at birth
People may also opt for genetic testing for simple peace of mind if their risk tolerance is low. Talk with your doctor or a genetic counselor if you want more information or if you feel that genetic testing is appropriate for you or your children.
Genetic testing is used for both research and clinical reasons, and it can be used to help trace family lineage as well as possible health conditions, including cancer.
While genetic testing isn’t required during pregnancy, some people who are pregnant may consider it to evaluate the possible risk of health conditions that can be passed on to a child.