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What is the difference between genetic testing and genetic counseling?

Published in Genetics 4 mins read

The key difference is that genetic testing is a test that analyzes your DNA, while genetic counseling is a service that helps you understand and navigate the results and implications of that test (or the possibility of testing). One is a tool; the other is a service.

Here's a more detailed breakdown:

Genetic Testing:

  • Definition: Genetic testing involves analyzing your DNA, usually from a blood sample, saliva, or other tissue, to identify changes in your genes, chromosomes, or proteins. These changes can indicate an increased risk of developing a disease, confirm a diagnosis, or predict how you might respond to certain medications.
  • Purpose:
    • Diagnostic testing: Confirming a suspected genetic condition.
    • Predictive and presymptomatic testing: Assessing the risk of developing a disease in the future.
    • Carrier testing: Determining if you carry a gene for a recessive disorder that could be passed on to your children.
    • Prenatal testing: Screening a fetus for genetic disorders.
    • Newborn screening: Identifying genetic disorders in newborns shortly after birth.
    • Pharmacogenomics: Predicting how you'll respond to a specific medication.
    • Ancestry testing: Revealing information about your genetic origins.
  • Example: A blood test to determine if you have the BRCA1 or BRCA2 gene mutation, which increases the risk of breast and ovarian cancer.

Genetic Counseling:

  • Definition: Genetic counseling is a communication process that helps individuals and families understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. It integrates interpretation of family and medical histories to assess risk of disease occurrence or recurrence, education about inheritance, testing, management, prevention, resources, and research. It also involves counseling to promote informed choices and adaptation to the risk or condition.
  • Purpose:
    • Risk assessment: Evaluating your personal and family history to determine your risk of inheriting or developing a genetic condition.
    • Education: Providing clear and understandable information about genetic conditions, inheritance patterns, testing options, and potential outcomes.
    • Decision-making support: Helping you weigh the pros and cons of genetic testing and make informed decisions that align with your values and goals.
    • Emotional support: Providing emotional support and guidance to cope with the emotional challenges associated with genetic conditions or risks.
    • Resource navigation: Connecting you with relevant resources, such as support groups, specialist physicians, and financial assistance programs.
  • Example: Meeting with a genetic counselor to discuss your family history of heart disease, learn about genetic testing options to assess your risk, and understand how lifestyle changes can reduce your risk. The counselor would also explain the potential implications of a positive test result and provide emotional support.

Key Differences Summarized in a Table:

Feature Genetic Testing Genetic Counseling
What is it? A test that analyzes your DNA A service that provides education and support
Purpose To identify genetic variations To help you understand and adapt to genetic information
Performed by Lab technicians, geneticists Genetic counselors
Deliverable A lab report with genetic results Information, support, and guidance

Relationship Between Genetic Testing and Genetic Counseling

While distinct, genetic testing and counseling often go hand-in-hand. A genetic counselor may recommend genetic testing if your personal or family history suggests an increased risk of a genetic condition. They can then help you interpret the test results and make informed decisions about your health care. However, genetic counseling is valuable even if you don't undergo genetic testing, as it can provide you with information and support to manage genetic risks.

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