Health Library

What Is Genetics?

Genetics (jeh-NET-iks) is the medical specialty that studies how human traits and characteristics pass from one generation to the next.

What Is a Geneticist?

A geneticist (jeh-NET-eh-sist) is a doctor who specializes in the study of genetics and family traits.

Why Would Someone Need One?

A pediatrician might refer someone to see a geneticist about a:

• birth defect (such as a cleft lip or cleft palate)
• family history of a genetic condition
• possible problem found during newborn screening
• medical problem with an unknown cause such as hearing loss
• problem with growth and development, learning, or behavior

Geneticists diagnose and treat many conditions. These include:

• muscular dystrophy
• skeletal dysplasias (dwarfism)
• craniofacial abnormalities (such as in Treacher Collins syndrome)
• Down syndrome
• cystic fibrosis
• chromosome problems (such as Turner syndrome)

They also do:

• testing for genetic conditions
• genetic counseling
• gene therapy

What Is Their Training?

A geneticist’s training usually includes:

• 4 years of pre-medical education at a college or university
• 4 years of medical school — a medical degree (MD) or doctor of osteopathic medicine (DO) degree
• 2–3 years of training in a pediatric residency program
• 2 years of training in a genetic residency program

They also may do a fellowship in a subspecialty area (for example, molecular genetics or medical biochemical genetics). A “fellow” is a doctor who undergoes more specialty training after completing medical school and a residency.

Good to Know

The Human Genome Project, which finished in 2003, was the complete mapping and understanding of all the genes of human beings. This will help geneticists and other researchers use information from DNA to develop new ways to treat, cure, or even prevent many diseases.