Samples and genetic counseling & Using results in care decisions

Samples and genetic counseling

Tests commonly use blood or cheek swabs; other samples may include saliva, skin, or amniotic fluid. A laboratory selects methods to investigate the question. Clinical, research, and direct-to-consumer testing have different contexts. Genetic counselors explain options, limitations, benefits, and results. Interpretation can involve emotional, social, and financial consequences as well as medical information, which makes informed discussion important before and after testing. Increased risk may lead to earlier or more frequent screening, monitoring, or health-behavior changes.

Using results in care decisions

Increased risk may lead to earlier or more frequent screening, monitoring, or health-behavior changes. Results can also inform reproductive choices or medicine selection through pharmacogenomic testing. These uses depend on the question, reliability, and meaning of the result. Counseling helps weigh benefits and uncertainty. Testing is not automatically useful for every situation, and an apparently simple result may still require clinical interpretation before changing care.

Key concepts

DNA variants and sequencing

Genetic tests identify changes in DNA, often called variants.

Risk is not a certain prediction

Testing can help diagnose disease, identify carrier status, or estimate increased risk.

Samples and genetic counseling

Tests commonly use blood or cheek swabs; other samples may include saliva, skin, or amniotic fluid.

Using results in care decisions

Increased risk may lead to earlier or more frequent screening, monitoring, or health-behavior changes.

References

• MedlinePlus en español — DNA and Genetic Testing