A Brief Overview
- More than 1,000 genetic tests are available. Whether to test is voluntary, and families can consider how the testing might impact social and emotional well-being.
- Genetic testing is available at various ages and stages through the lifespan. Read on for information about options from pre-birth through adulthood.
- A directory from the National Society of Genetic Counselors provides a place to seek information and support.
- The Genetic Information Nondiscrimination Act (GINA) protects individuals from genetic discrimination. The National Human Genome Research Institute, (NHGRI) provides information about GINA.
Genetic testing can provide information about changes in chromosomes, genes, or proteins that might impact a person’s health, development, or ability to respond to certain medical treatments. Testing is available from pre-birth throughout the lifespan.
A genetic test can confirm or rule out a suspected genetic condition or determine whether someone might develop a medical condition or pass on a genetic disorder to a child. More than 1,000 genetic tests are currently in use, and more are being developed.
Testing is voluntary and personal. Families can discuss with providers whether information found through testing might help with choice-making or whether the testing might cause stress. A geneticist or genetic counselor can provide guidance about the pros and cons of the test and discuss the social and emotional aspects of testing.
According to the National Institutes of Health (NIH), the three common methods for genetic testing include:
- Molecular tests, which look for markers that might identify small variations or mutations in the structure of a person’s cells.
- Chromosomal tests, which analyze whole chromosomes to see if large genetic changes, such as an extra copy of a chromosome, may cause a genetic condition.
- Biochemical tests, which analyze proteins to determine any abnormalities that might indicate a genetic disorder.
Genetic testing often involves a small blood sample or a cheek-swab that is sent to a medical lab for analysis. A medical provider or genetic counselor usually shares and interprets the results. Patients also can ask for lab results to be mailed directly to the home.
When deciding about genetic testing, families generally start with a reason to wonder if there might be a problem. A child may have a medical diagnosis, or someone else in the family may have suffered from a condition related to a genetic abnormality. Regardless of the reason, families may face choices at various ages and stages of the development. Here are a few examples of genetic tests that parents may consider:
Preimplantation Genetic Diagnosis (PGD)
PGD is provided when a mother chooses to become pregnant through a process of in-vitro fertilization, when the egg and sperm are introduced outside the woman’s body. The resulting embryo can be tested to ensure that only embryos free of genetic disorders are implanted into the woman’s womb.
Genetic testing on the baby can be done inside the mother’s womb. Amniotic fluid or tissue is collected from the fetus. Because the tests introduce a potential for miscarriage, mothers often discuss risks and reasons for wanting the information before choosing.
The most common type of genetic testing is newborn screening. Typically, a baby’s heel is pricked within a day or two after birth. The blood sample can reveal genetic disorders that might be treatable early in life. Follow-up testing is sometimes needed for development of a care plan.
When a person is ill and doctors struggle to determine the cause, genetic testing can sometimes assist with diagnosis. Genetic information may impact the course of ongoing treatment.
If a family member has been diagnosed with a genetic disorder, other relatives may wish to be tested to identify any risk. For example, certain genetic markers indicate a tendency toward a specific cancer or heart condition. Finding a gene that increases the chances of developing a disease may help patients make medical or lifestyle decisions.
Certain families or ethnic groups carry genetic markers for specific impairments. If both parents carry a marker, they may pass it on to their children. Knowing this through testing can inform parenting decisions.
Genetic markers can provide information about how certain medications are metabolized. Knowing how a person might respond to medications removes some of the guesswork. Genetic testing is increasingly common for individuals with mental health diagnoses.
Research Genetic Testing
By studying how genetics impact health and development, researchers expand knowledge about what can happen and how the medical field might respond.
What are the costs?
Basic genetic testing can cost $100-$2,000. A more complex diagnosis can cost more. Whether insurance pays may depend on whether the test is being recommended by a provider. Most policies cover newborn testing.
Test results may arrive in a few weeks or take several months. Prenatal tests generally are completed more quickly. A genetic counselor or medical provider can provide more precise detail about expected costs and timing.
Some people worry that genetic testing could impact healthcare coverage. The Genetic Information Nondiscrimination Act (GINA) intends to protect individuals from genetic discrimination. The National Human Genome Research Institute, (NHGRI) provides information about this law.
According to the Institute, “Many Americans fear that participating in research or undergoing genetic testing will lead to being discriminated against based on their genetics. Such fears may dissuade patients from taking genomics-based clinical tests or volunteering to participate in the research necessary for the development of new tests, therapies, and cures. To address this, in 2008 the Genetic Information Nondiscrimination Act (GINA) was passed into law, prohibiting discrimination by employers and health insurers.”
Emotional costs of genetic testing can be complex. Finding out the results of a genetic test can cause anxiety, anger, guilt, or depression. A genetic counselor can help with decision-making. A directory from the National Society of Genetic Counselors provides a resource for finding support.