Glossary
Genetic Counselor Terms & Vocabulary
15 essential genetic counselor terms with plain-English definitions: the vocabulary you’ll hear in training and on day one.
Key genetic counselor vocabulary
These 15 terms come up constantly in genetic counselor training, on the job and in interviews. Knowing them helps you follow instructions, document accurately and sound prepared.
- Autosomal dominant
- One copy causes the trait.
- Autosomal recessive
- Two copies needed.
- BRCA
- Genes linked to breast and ovarian cancer.
- Carrier
- Has one copy of a gene change.
- Cascade testing
- Testing relatives.
- Exome sequencing
- Testing protein-coding genes.
- Germline
- Inherited DNA.
- Informed consent
- Agreement after understanding.
- Pathogenic
- Disease-causing.
- Pedigree
- A family tree showing conditions.
- Penetrance
- Chance a gene causes disease.
- Prenatal screening
- Testing during pregnancy.
- Somatic
- Acquired DNA changes.
- Variant
- A change in DNA.
- VUS
- Variant of uncertain significance.
Practice these terms
Test yourself with the free Genetic Counselor practice test: it includes vocabulary questions built from this list. For a complete course, see Genetic Counselor training.
Browse terms from every career in our career glossary.