What is Genetic Testing and Counseling?

An overview of genetic testing and counseling, including how tests work, when to consider them, and what results may mean.

General Health

Genetic Testing and Counseling

2025-09-27

Intro

Genetic testing and counseling help people understand their inherited risks for certain diseases. These services can confirm diagnoses, guide medical treatment, and inform family planning decisions.

Key Points

Genetic testing examines DNA for mutations or variations linked to disease.
Counseling provides support and interpretation of results.
Useful for diagnosis, risk assessment, and reproductive planning.
Tests may be predictive, diagnostic, or carrier screens.
Counseling ensures results are explained in context.

Background

Every person’s DNA carries variations. Some are harmless, while others increase the risk of disease. Genetic testing allows clinicians to detect mutations that may explain symptoms or predict future conditions. Because results can have emotional and family-wide implications, counseling is recommended before and after testing.

Causes or Mechanisms

Genetic disorders occur when changes in DNA disrupt how proteins are made. Examples include:

Huntington’s disease: caused by an expanded CAG repeat in the huntingtin gene.
BRCA1/2 mutations: linked to breast and ovarian cancer.
Cystic fibrosis: caused by mutations in the CFTR gene.

Testing and Counseling Process

Sample collection: usually saliva or blood.
Laboratory analysis: sequencing or targeted mutation testing.
Counseling session: explanation of results, risks, and next steps.
Follow-up: may involve family testing or preventive measures.

Risks / Benefits

Benefits: clearer diagnoses, proactive care, informed decisions.
Risks: emotional impact, uncertain results, privacy concerns.
Prognosis: depends on condition tested — some are preventable or manageable, others progressive.

FAQ

Q: Does insurance cover genetic testing?
A: Often yes for medically indicated tests, but policies vary.

Q: Can results affect employment or insurance?
A: Laws in some countries protect against genetic discrimination, but rules differ by region.

Q: Do I need genetic counseling for every test?
A: Not always, but counseling is strongly advised for tests with serious health implications.