- How genes work
- Where specific genes are located
- How genes contribute to disease
- How diseases run in families
- How we can test for genes that might be harmful and cause disease because they are not functioning the way that they should
Geneticists play an important role in the diagnosis and management of a genetic disorder. They also give information to patients and family members about genetic conditions.
In general, geneticists focus on research or seeing patients. Some geneticists do both. A geneticist who meets with patients to evaluate, diagnose, and manage genetic disorders is a doctor with special training in genetics, also called a clinical geneticist.
- Meet with and examine patients
- Order appropriate genetic tests
- Diagnose and help manage genetic conditions
- Figure out a family’s risk for genetic conditions
A clinical geneticist can refer you to other medical specialties, if needed. The American Board of Medical Genetics (ABMG) certifies doctors in genetics.
On the other hand, research geneticists focus on research. They perform experiments to learn more about our genes. Then, they think about their results and what they can teach us about genes and disease. Research geneticists also may study the use of genetic technologies. A research geneticist studies:
Prenatal genetic counselors work with couples who are thinking about having a child or couples who are already expecting a child. They work with families to assess a baby's risk for having a genetic condition.
Pediatric genetic counselors work with children and their families. Usually these children have:
- A known or suspected genetic condition
- A birth defect
- An abnormal newborn screening result
- A physical or developmental delay
Genetic counselors also work with adults to understand their risks for certain health conditions.