Geneticist

What is a geneticist?

A geneticist (medical or clinical geneticist) is a doctor who specializes in understanding the links between our genes and our health.

Geneticists diagnose and manage genetic disorders that affect people of all ages, from pregnancy onward. In addition to working directly with individuals and families, clinical geneticists often do research that helps advance our understanding of genetic disorders. They may also take on administrative or teaching roles.

Why would someone need to see a geneticist?

There are many reasons why you’d see a geneticist. Here are some common scenarios.

You’re diagnosed with a genetic disorder

Your healthcare provider may refer you to a geneticist if you’re diagnosed with a genetic disorder. This means changes (mutations) are affecting your genes. Genetic mutations might be present at birth or develop later in life.

A geneticist is prepared to identify the genetic factors at play and help you understand what this diagnosis might mean for your children or other family members. They can also offer recommendations to your care team to keep you as healthy as you can be with that genetic disorder.

You have a family history of a certain condition

Your provider may refer you to a geneticist if a certain condition, like cancer, runs in your biological family. A geneticist can help evaluate your risk and plan a path forward. For example, they might recommend certain screenings to catch signs of cancer as early as possible. They might also recommend genetic testing to learn more about your risk.

Your child has a genetic condition

Geneticists work with adults as well as children. Some even specialize in working with kids. You may see a geneticist if your child is diagnosed with a birth defect or autism. A geneticist will help you and your family understand your child’s diagnosis, treatment options and prognosis (outlook).

You’re planning a family or pregnant

Your obstetrician or midwife may recommend you see a geneticist as part of family planning. This is especially important if you have a genetic disorder or you’re over age 35. A geneticist can help determine the chances of your baby inheriting a genetic disorder or being born with a condition like Down syndrome.

You may also see a geneticist while you’re pregnant to discuss prenatal test results or other concerns.

You have a rare disease

Geneticists diagnose and manage common genetic conditions as well as rare ones. Some conditions are extremely rare, and a geneticist may be the only provider who knows enough about your condition to help you.

What is a clinical geneticist?

The term clinical geneticist refers to a geneticist who sees patients. They have a Doctor of Medicine (MD) or Doctor of Osteopathic Medicine (DO) degree.

Most geneticists are considered clinical geneticists. But some geneticists don’t see patients and instead work primarily in labs. They might have a medical degree or a Doctor of Philosophy (PhD) degree — or both. They typically go by the title of geneticist or medical geneticist, but not clinical geneticist.

Where do geneticists work?

Most geneticists work in major hospitals and medical centers. Some work in private or group practices. A small number work exclusively in commercial labs.

Geneticists typically meet with you in person, but many are available for virtual appointments, too (telehealth). Telehealth is especially important in areas where there aren’t many — or any — geneticists available.

Most geneticists work in or near big cities, so that means many people live in areas without easy access. If you want to see a geneticist but there isn’t one near you, ask your healthcare provider about your options.

What does a geneticist do?

A typical work week for a clinical geneticist might involve:

• Doing detailed physical exams.
• Talking to people about their family history and symptoms.
• Planning and ordering genetic testing.
• Reviewing test results with individuals and their families.
• Sharing a diagnosis that may be upsetting for a person to hear — and supporting the person and their family with kindness and compassion.
• Working with other healthcare providers to coordinate care.
• Recommending treatments or strategies to manage a condition.
• Reading published articles in medical genetics to keep up with the latest research.
• Doing administrative work or teaching.
• Researching and writing articles for publication.

Not all geneticists directly see patients. Some work in labs doing behind-the-scenes tasks like:

• Running tests for genetic disorders.
• Interpreting test results.
• Creating detailed reports for healthcare providers.

What’s the difference between a geneticist and a genetic counselor?

Geneticists and genetic counselors are both genetics experts, but they have different types of training:

• Geneticists are doctors. They go to medical school and specialize in genetics.
• Genetic counselors are trained professionals who earn their master’s degree in genetic counseling. They also take an exam to earn the Certified Genetic Counselor (CGC®) credential. They can perform many of the tasks mentioned above but can’t perform physical exams or create medical management plans that aren’t published already.

Geneticists and genetic counselors work together on teams with other health professionals, including genetics nurses, dietitians and specialists in pharmacogenomics. Genetics experts also work with primary care physicians (PCPs) and other specialists (like neurologists or oncologists) to diagnose and manage conditions.

How do I become a geneticist?

To become a geneticist, you need advanced education — either medical school (to get an MD or DO) or graduate school (to get a PhD). Here are the basic steps most geneticists follow:

• Earn a bachelor’s degree.
• Attend medical school to earn an MD or DO degree.
• Complete a medical residency (in an area like internal medicine or pediatrics) and an additional fellowship in genetics or a combined residency such as pediatrics/genetics.
• Take an exam to earn board certification through the American Board of Medical Genetics and Genomics (ABMGG).

If you’d rather do research or work in a lab instead of meeting with patients, you may choose to earn a PhD instead of a medical degree. Some people earn a dual degree (MD/PhD). The exact path you take depends on your interests and professional goals. It’s a good idea to visit prospective schools and talk with faculty and students to learn more about your options.

What is a pediatric geneticist?

A pediatric geneticist diagnoses and treats genetic conditions in babies and children. They also provide education and support to families. For example, they:

• Explain details of your child’s condition in terms you can understand.
• Walk you through test results.
• Explain the chances of the genetic condition affecting other family members or future pregnancies.

You may work with a pediatric geneticist if your child was born with:

• Congenital heart disease.
• A genetic syndrome affecting their chromosomes, like Down syndrome.
• An inherited disorder like cystic fibrosis or sickle cell disease.

Pediatric geneticists complete residency training in both pediatrics and medical genetics, and they’re often board certified in both areas. 

A note from Cleveland Clinic

You might feel nervous if you’re meeting with a geneticist for the first time. But keep in mind that geneticists meet with individuals and families every day. They care about helping you understand what’s happening inside your body or your loved one’s body. They may tell you good news, or they may have to tell you news that’s difficult to hear. No matter what, geneticists are prepared to support you each step of the way with knowledge, resources and compassion.