What Is a Geneticist?

What Is a Geneticist?

A geneticist is a medical physician who specializes in caring for persons with hereditary disorders. He or she often works with a patient’s healthcare team to diagnose and treat conditions with known genetic factors. In complex, multifactorial cases, the geneticist oversees the entire medical process—from ordering tests and gathering data, to making a diagnosis and treatment plan, to managing and evaluating care.

Geneticists are extensively educated, completing four years of medical or osteopathic school, a multi-year residency in internal medicine or pediatrics, and additional years of training in their specialty. Before practicing, they are licensed and board-certified, and they maintain certification through ongoing training and testing.

What Does a Geneticist Do?

Geneticists diagnose and treat a wide range of hereditary conditions. In managing disease, a geneticist often acts as the “point person” for patient care. Oversight involves the following steps:

  • Meeting and examining patients.
  • Ordering and administering genetic testing.
  • Interpreting results and sharing them with patients and families.
  • Diagnosing the medical condition and its stage of development.
  • Evaluating treatment options and selecting the most effective response.
  • Coordinating care with other members of the medical team.
  • Managing and evaluating the course of treatment.

Not all geneticists work directly with patients. Some focus on laboratory or academic research to advance knowledge of how genes influence health. Geneticists can be found in hospital, university, corporate and private-practice settings.

What Types of Geneticists Are There?

  • Clinical biochemical genetics
  • Clinical genetics and genomics
  • Laboratory genetics and genomics
  • Medical biochemical genetics
  • Molecular genetic pathology
  • Pediatric genetics

Most geneticists hold MD or DO degrees, but some earn PhDs with an emphasis on research and teaching.

When Should You See a Geneticist?

  • A family history of a medical condition with a known genetic component.
  • Personal diagnosis of a heritable condition.
  • A loved one diagnosed with a heritable condition.
  • Development of a rare health disorder.
  • Family planning or pregnancy considerations.

Geneticists often have deeper expertise in rare conditions than primary-care physicians and can help assess risks of passing disorders to children.

What Can I Expect at My Visit to a Geneticist?

The geneticist will perform a physical exam, review symptoms and family history, and create a pedigree (family tree) to look for disease patterns. Genetic testing is discussed and arranged when you understand its benefits and limitations. If testing reveals an inherited condition, the geneticist explains treatment options, coordinates specialty care, prescribes medications and addresses both physical and emotional aspects of the diagnosis.

If you’re experiencing symptoms or have a concerning family history, the Baptist Health medical-genetics team is ready to help. For more information, visit our Genetic Counseling page or call 859-260-4419.

Geneticist FAQ

What do geneticists do?

Geneticists are medical doctors who diagnose and treat patients with heritable health conditions. This specialty has grown rapidly as medical science has advanced our understanding of human genetics.

What is the difference between a clinical and a medical geneticist?

Both are physicians, but clinical geneticists interact directly with patients and families. Despite the name, medical geneticists mainly work in laboratories performing analysis and research, with little direct patient contact.

Is a geneticist the same as a genetic counselor?

No. A geneticist is a doctor with an MD or DO who specializes in inherited medical conditions. Genetic counselors are master’s-prepared professionals certified in genetic counseling who perform many of the same non-medical services and may work independently or under the supervision of a geneticist.