Genetic Testing

What is Genetic Testing?

Genetic testing is a medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can give you information about your chances of developing certain illnesses or diseases.

Genetic tests can determine if you carry genes that may cause illness or disease in your children. Genetic tests are also for individuals who have a family history of a certain condition, and families can decide to take these tests to understand their chances of developing it.

Genetic tests can also confirm or rule out a diagnosis. They can help determine the best treatment plan or detect gene-related risks of diseases in a family.

In some cases, genetic testing can predict how well someone would respond to certain medications.

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Reasons for Genetic Testing

Genetic testing can be used for the following reasons:

Determining the chances of inheriting a genetic disorder from parents
Identifying changes in genes that may cause or increase the risk of certain diseases
Screening adults to identify genetic risks for certain diseases, such as breast or ovarian cancer
Diagnosing a disease, such as Huntington’s disease or cystic fibrosis
Screening embryos for genetic defects before implantation in assisted reproductive technologies.
Determining the effectiveness of medications used to treat certain genetic disorders.
Monitoring a patient's health to reduce the chances of future medical problems or prevent disease

Types of Genetic Testing

Doctors use several types of genetic tests to diagnose, manage, and treat a variety of medical conditions.

The most common types of genetic tests are:

Carrier testing: This test identifies if an individual carries a gene that could be passed on to their children.
Diagnostic testing: This test identifies genetic conditions or disorders in individuals who are experiencing symptoms.
Predictive and pre-symptomatic testing: Shows if an individual is at risk of developing a genetic condition before symptoms appear.
Prenatal testing: This test identifies any potential genetic changes in a baby before birth.
Newborn screening: A baby is tested shortly after birth to check for conditions such as cystic fibrosis or sickle cell anemia.

When Should I Decide to Get a Genetic Test?

Your doctor can help you decide if a genetic test is right for you based on the following:

Your symptoms
Medical history
Health history
Family history

You can take a test if you are considering having children in the future. This helps to know if there are changes in certain genes that could cause a disease and be passed to future generations.

Who Might Want to Get Genetic Testing?

Genetic testing can be beneficial for a variety of people.

Those with a family history of genetic disorders
Those who may have already been diagnosed with certain medical conditions who would benefit from additional information
Couples who are considering having children

Genetics Specialists Near You

Genetics Doctors

Where Can a Person Go to Get Genetic Testing?

Genetic testing is available through many healthcare facilities including primary care doctors, medical centers, and specialty clinics.

Many states offer public health services that provide genetic testing for qualifying individuals, such as those with certain inherited conditions.

Types of Genetic Testing Results

Positive result: The test confirms the patient does have a genetic change that can cause a disease.

Negative result: A negative genetic test result means that the patient does not have a change in the gene or genes that were tested. This doesn’t necessarily mean the patient is completely free of the risk of developing an inherited disorder in the future.

Uncertain result: A uncertain test result means there is not enough evidence of whether a change in a gene could possibly cause a disease.

How Can you Prepare for Genetic Testing?

If possible, you should collect detailed family members' medical history. Provide information about the medical conditions in the family to your health care team so they can determine which tests are best suited for you.

A physician may then recommend a blood test or imaging studies to help rule out certain conditions before undergoing a genetic test.

How is Genetic Testing Administered?

Genetic testing involves a DNA sample of cells from your body. Physicians send the sample to a laboratory for analysis.

Common samples are taken from a blood sample, saliva sample, or cheek swab.

The laboratory will then extract the DNA from the sample and analyze it for gene variants associated with certain conditions.

Should I Get Genetic Counseling?

Genetic counseling is useful if you are at a higher risk of carrying a genetic condition. Genetic counselors are specially trained healthcare professionals who can help you understand your risk factors and options for testing and treatment.

They can also provide support and guidance in making decisions about how to manage any potential high risks. They will spend time with you to discuss your personal and family history, understand your concerns, and provide education about genetic conditions.