A geneticist is a doctor who specializes in medical genetics. Medical genetics doctors study genes and how they affect health. They help diagnose and treat conditions caused by changes in a person’s genes. They work with people who have genetic disorders or inherited diseases and research ways to prevent or treat these conditions. Medical genetics specialists are trained to understand how genes play a role in health and disease. They work in hospitals, clinics, or research labs, and may focus on specific areas like cancer genetics or prenatal genetics.   

A genetic counselor helps people understand how their genes may affect their health. They often explain the risks of genetic conditions and help families make decisions about genetic testing. A medical geneticist is a doctor who diagnoses and treats genetic disorders. While both professionals work with genetics, their roles are different. Genetic counselors provide support and information, while medical geneticists focus more on diagnosing and treating genetic disorders. 

There are several types of medical geneticists: 

• Clinical geneticists work directly with patients to diagnose and manage genetic conditions. 

• Molecular geneticists study genes at a molecular level, often in a lab setting. 

• Biochemical geneticists focus on metabolic disorders caused by changes in genes. 

• Cancer Geneticist: Specializes in genes related to cancer and helps patients understand their risk. 

Medical genetics is the broader field that studies how genes affect health. Clinical genetics is a branch of medical genetics that focuses on diagnosing and treating people with genetic disorders. A clinical geneticist works directly with patients to find out if their symptoms are caused by genetic conditions and help them manage their health. Medical genetics includes research and lab work, while clinical genetics focuses on patient care, working closely with individuals and families affected by genetic conditions. 

A geneticist may perform a variety of tests to help diagnose genetic conditions. The specific tests will depend on your symptoms and family history. Common tests include: 

• Blood tests: Used to analyze DNA or chromosomes for changes. 

• DNA sequencing: Looks at the exact order of your genetic code to detect mutations. 

• Chromosomal analysis (karyotyping): Examines the structure and number of chromosomes to find abnormalities. 

• Biochemical tests: Checks for abnormal levels of proteins or enzymes that may indicate a genetic disorder. 

• Prenatal genetic testing: Looks for genetic conditions in an unborn baby, often using amniocentesis or chorionic villus sampling (CVS). 

At your first appointment, expect the geneticist to ask detailed questions about your medical history and your family’s health history. They may perform a physical exam to look for any physical signs of a genetic condition. You’ll also discuss possible testing options and what they can reveal. The geneticist may explain the testing process, the potential results, and what steps you may need to take based on the findings. You’ll also have the chance to ask questions and learn how genetic testing might affect your treatment plan or family planning decisions. 

There are various reasons why you may want to see a specialist, such as: 

• Your primary care provider recommends it. 

• Your condition requires expert knowledge and specialized care. 

• Your symptoms persist or worsen despite treatment. 

• You need specialized testing or procedures. 

• You want a second opinion.  

It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

You can find a Geneticist in any of the 10 largest U.S. cities by clicking below:

Geneticist near New York, NY
Geneticist near Los Angeles, CA
Geneticist near Chicago, IL
Geneticist near Houston, TX
Geneticist near Phoenix, AZ
Geneticist near Philadelphia, PA
Geneticist near Atlanta, GA
Geneticist near Boston, MA
Geneticist near Dallas, TX
Geneticist near San Jose, CA

MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Geneticist search results page. 

Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

Prepare for your appointment by gathering the following items: 

• Copies of medical records (dating back at least one year) 

• Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 

• Family history of disease 

• List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 

• Allergies to medications, food, latex, insects, etc.  

• List of questions and concerns 

• Your insurance card 

You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

Here are some sample questions: 

• Can you explain in simple terms what this condition is and how it’s treated? 

• What symptoms or side effects should I watch for? 

• What tests will be involved, and when can I expect results? 

• Are there other specialists I need to see? 

• What’s the best way to reach you if I have follow-up questions? 

MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

Look for the filter feature on the left side of the Geneticist search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

Cystic Fibrosis
Down Syndrome
Duchenne Muscular Dystrophy
Fragile X Syndrome
Hemochromatosis
Hemophilia A
Hemophilia B
Huntington Disease
Marfan Syndrome
MELAS Syndrome
Pompe Disease
Sickle Cell Disease
Spinal Muscular Atrophy (SMA)
Tay-Sachs Disease
Thalassemia
Turner Syndrome

Look for the filter feature on the left-side of the Geneticist search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

Reviewed on: 11/07/24  

By: MediFind Medical Staff 

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