Top 25 Medical Genetics And Genomics Specialists Across the US
Verified from CMS provider data, updated monthly. Click any provider to see credentials, insurance acceptance, and patient resources.
What is a Geneticist?
Learn about this specialty, training requirements, and when to schedule a visit.
A geneticist is a physician who specializes in medical genetics and genomics, diagnosing and managing hereditary conditions, chromosomal disorders, and genetic syndromes. These specialists interpret genetic tests, provide genetic counseling, and develop personalized treatment plans based on a patient's genetic makeup. Medical geneticists work across the lifespan, from prenatal diagnosis to adult-onset hereditary conditions, and collaborate with genetic counselors to help patients and families understand their genetic risks and options.
Training and Qualifications
Becoming a geneticist requires extensive education and training:
- 4 years of medical school to earn an MD or DO degree
- Completion of a primary residency (often pediatrics, internal medicine, or OB/GYN)
- 2-year fellowship in medical genetics and genomics
- Total of 13-14+ years of education and training beyond high school
- Optional subspecialty training in clinical biochemical genetics, clinical molecular genetics, or laboratory genetics
Board Certification: American Board of Medical Genetics and Genomics (ABMGG). Certification requires completing an accredited residency or fellowship and passing comprehensive examinations. Subspecialty certifications available in clinical biochemical genetics, clinical cytogenetics, clinical molecular genetics, and laboratory genetics.
When Should You See a Geneticist?
You should consider seeing a geneticist if:
- You have a family history of hereditary cancer syndromes (BRCA, Lynch syndrome)
- You are planning pregnancy and want carrier screening for genetic conditions
- Your prenatal screening or ultrasound shows concerning findings
- Your child has developmental delays, birth defects, or dysmorphic features
- You have been diagnosed with a rare disease requiring genetic confirmation
- You need pharmacogenomic testing to optimize medication selection
- Multiple family members have the same medical condition suggesting hereditary cause
- You want to understand your risk for conditions like Huntington's disease
Key Facts
Common Conditions Treated
Geneticists are trained to diagnose and treat a wide range of conditions. Here are some of the most common conditions that geneticists help patients manage.
Hereditary Cancer Syndromes
Inherited genetic mutations that significantly increase cancer risk, including BRCA1/2, Lynch syndrome, Li-Fraumeni syndrome, and familial adenomatous polyposis.
Key Symptoms
Treatment Approach
Geneticists perform comprehensive cancer risk assessments, order and interpret genetic testing, coordinate enhanced screening protocols, discuss risk-reducing surgeries, and facilitate testing for at-risk family members.
Chromosomal Disorders
Conditions caused by abnormalities in chromosome number or structure, including Down syndrome, Turner syndrome, Klinefelter syndrome, and chromosomal deletions or duplications.
Key Symptoms
Treatment Approach
Geneticists diagnose chromosomal conditions through karyotype and microarray analysis, provide prognostic information, coordinate multidisciplinary care, and offer recurrence risk counseling for future pregnancies.
Prenatal Genetic Conditions
Genetic evaluation during pregnancy including abnormal screening results, ultrasound findings, or known family history of genetic conditions.
Key Symptoms
Treatment Approach
Prenatal geneticists interpret screening results, perform diagnostic procedures (amniocentesis, CVS), provide detailed genetic counseling about findings, and help families make informed decisions about pregnancy management.
Rare Genetic Diseases
Uncommon inherited conditions often requiring extensive diagnostic workup, including metabolic disorders, connective tissue disorders, and neurodegenerative conditions.
Key Symptoms
Treatment Approach
Geneticists utilize whole exome or genome sequencing to identify rare genetic variants, connect families with condition-specific resources and research opportunities, and develop personalized management plans.
Pharmacogenomics
Using genetic information to predict medication response, optimize drug selection, and minimize adverse reactions based on inherited variations in drug metabolism.
Key Symptoms
Treatment Approach
Geneticists interpret pharmacogenomic test results, provide recommendations for medication selection and dosing based on genetic variants in drug metabolism genes, and help clinicians optimize therapeutic outcomes.
Genetic Counseling for Family Planning
Pre-conception and prenatal counseling for couples concerned about hereditary conditions, carrier screening, and reproductive options.
Key Symptoms
Treatment Approach
Geneticists provide carrier screening, calculate recurrence risks, discuss reproductive options including IVF with preimplantation genetic testing, and support families through complex decision-making processes.
Inherited Cardiovascular Conditions
Genetic heart conditions including hypertrophic cardiomyopathy, familial hypercholesterolemia, arrhythmia syndromes, and connective tissue disorders affecting the heart and blood vessels.
Key Symptoms
Treatment Approach
Cardiovascular geneticists coordinate genetic testing, identify at-risk family members, guide surveillance protocols, and help implement preventive measures including lifestyle modifications and medications.
Neurogenetic Disorders
Inherited conditions affecting the nervous system including Huntington's disease, hereditary neuropathies, muscular dystrophies, and spinocerebellar ataxias.
Key Symptoms
Treatment Approach
Neurogenetics specialists diagnose inherited neurological conditions, provide predictive testing with appropriate counseling, coordinate multidisciplinary care, and connect families with clinical trials and emerging therapies.
Important Note
This list represents common conditions but is not exhaustive. Geneticists treat many other conditions related to their specialty. If you're experiencing symptoms or have concerns, consult with a qualified geneticist for a proper evaluation.
What to Expect During Your Visit
Understanding what happens during your appointment can help you feel more prepared. Here's what you can typically expect when visiting a geneticist.
Your First Visit
- Detailed three-generation family history (pedigree) construction
- Review of medical records, previous genetic testing, and imaging
- Physical examination looking for features of genetic syndromes
- Discussion of genetic testing options, limitations, and implications
- Explanation of inheritance patterns and recurrence risks
- Genetic counseling addressing emotional and psychological aspects
- Initial consultation typically lasts 60-90 minutes
Diagnosis & Testing
- Chromosomal microarray analysis to detect copy number variations
- Single-gene testing for suspected specific conditions
- Multi-gene panel testing for conditions with genetic heterogeneity
- Whole exome sequencing (WES) for undiagnosed conditions
- Whole genome sequencing (WGS) when WES is non-diagnostic
- Metabolic testing including enzyme assays and biochemical markers
- Prenatal diagnostic testing via amniocentesis or chorionic villus sampling
Treatment Options
- Development of personalized surveillance protocols based on genetic diagnosis
- Coordination of multidisciplinary care with relevant specialists
- Genetic counseling for patient and at-risk family members
- Connection with patient advocacy groups and support resources
- Discussion of emerging therapies and clinical trial opportunities
- Pharmacogenomic-guided medication management
- Reproductive counseling and planning for future pregnancies
Tip for Your Visit
Bring a list of current medications, previous test results, and questions you want to ask. Writing down your symptoms—when they occur and what affects them—helps your geneticist provide accurate diagnosis and effective treatment.
How to Choose the Right Geneticist
Finding the right healthcare provider is important for your health and peace of mind. Here are key factors to consider when selecting a geneticist.
Credentials to Verify
- Board certification by the American Board of Medical Genetics and Genomics (ABMGG)
- Completion of an ACGME-accredited medical genetics residency or fellowship
- Active, unrestricted medical license in your state
- Subspecialty certification if specific expertise needed (biochemical, molecular, cytogenetics)
- Affiliation with academic medical center or genetics clinic
- Membership in American College of Medical Genetics and Genomics (ACMG)
Important Considerations
- Experience with your specific condition or family history concern
- Access to comprehensive genetic testing including whole exome/genome sequencing
- Availability of certified genetic counselors as part of the team
- Insurance acceptance and understanding of genetic testing coverage
- Participation in rare disease research and clinical trials
- Turnaround time for genetic test results and follow-up
- Telemedicine options for patients in areas without local genetics services
Quick Tip
Don't hesitate to schedule consultations with multiple geneticists before making your decision. The right fit isn't just about credentials—it's also about feeling comfortable and confident in your care.
Cost and Insurance Information
Understanding the costs associated with seeing a geneticist can help you plan for your healthcare needs.
Average Costs (Without Insurance)
Initial Visit
$300-$600 (comprehensive genetic consultation)
Follow-up Visit
$150-$300
Common Procedures
Note: These are estimated average costs and can vary based on location, provider, and specific services required.
Insurance Coverage
- Most insurance covers genetic consultation when medically indicated
- Genetic testing coverage varies significantly by insurance plan and indication
- Prior authorization often required for comprehensive genetic testing
- Many labs offer financial assistance programs for uninsured or underinsured patients
- Preventive genetic testing (like BRCA for high-risk individuals) often covered under ACA
- Some direct-to-consumer tests are not covered by insurance
Medicare Information
Medicare covers genetic testing when medically necessary, including BRCA testing for individuals meeting specific criteria and pharmacogenomic testing for certain medications. Coverage for broader genomic sequencing varies by Medicare Administrative Contractor and clinical indication. Genetic counseling by certified genetic counselors is covered under Medicare Part B when ordered by a physician.
Money-Saving Tips
- 1Always verify your geneticist is in-network before scheduling
- 2Ask about self-pay discounts if you don't have insurance
- 3Inquire about payment plans for expensive procedures
- 4Get prior authorization when required to avoid claim denials
- 5Use FSA or HSA funds for eligible medical expenses
Questions to Ask Your Geneticist
Being prepared for your appointment helps you get the most out of your time with your doctor. Here are important questions to consider asking a geneticist.
What type of genetic testing do you recommend for my situation?
What are the possible results and what would each mean for me?
How will this genetic information affect my medical care?
Should my family members consider genetic testing?
What are the limitations of the testing you recommend?
How do you protect the privacy of my genetic information?
Are there clinical trials or research studies I might qualify for?
What happens if testing doesn't provide a clear answer?
How will genetic testing be covered by my insurance?
What support resources are available for my condition?
Pro Tip
Write down your questions before your appointment and bring them with you. Don't hesitate to take notes during your visit or ask for written instructions.
When to Seek Emergency Care
Know when symptoms require immediate attention versus a scheduled appointment.
While most conditions can wait for a scheduled appointment with a geneticist, certain symptoms require immediate emergency care. Go to the emergency room or call 911 if you experience:
- Newborn with suspected metabolic crisis: poor feeding, lethargy, seizures, unusual body odor - may indicate inborn error of metabolism requiring urgent treatment
- Acute porphyria attack: severe abdominal pain, neurological symptoms, dark urine - requires immediate medical intervention
- Malignant hyperthermia episode during anesthesia in patient with known susceptibility - life-threatening emergency
- Signs of acute decompensation in known metabolic disorder - requires emergency metabolic management
- Sudden cardiac symptoms in patient with known inherited arrhythmia syndrome - may indicate life-threatening arrhythmia
EMERGENCY
Call 911 or nearest ER
URGENT
Doctor or urgent care
NON-URGENT
Regular appointment
Geneticist vs. Other Specialists
Understanding the differences between medical specialists helps you choose the right provider for your needs.
Geneticist vs. Genetic Counselor
A medical geneticist is a physician who can diagnose and treat genetic conditions, order and interpret tests, prescribe medications, and manage complex medical issues. A genetic counselor has a master's degree and focuses on patient education, risk assessment, and psychosocial support. They often work as a team, with the geneticist handling medical management and the counselor providing detailed counseling and support.
Geneticist vs. Oncologist
Oncologists diagnose and treat cancer using chemotherapy, immunotherapy, and other treatments. Medical geneticists with expertise in cancer genetics focus on identifying hereditary cancer risk, genetic testing, and prevention strategies. Patients with hereditary cancer syndromes often see both specialists - the geneticist for risk assessment and the oncologist for cancer treatment.
Geneticist vs. Maternal-Fetal Medicine Specialist
Maternal-fetal medicine specialists manage high-risk pregnancies including those with suspected fetal abnormalities. Medical geneticists provide specialized expertise in interpreting genetic test results, diagnosing genetic syndromes, and counseling about inheritance and recurrence. They often collaborate when genetic conditions are suspected during pregnancy.
Not sure which specialist you need?
Your primary care physician can help determine the right specialist for your condition and provide a referral if needed.
Sources & References
Information about geneticists is sourced from peer-reviewed medical literature and authoritative organizations.
Last updated: March 2026
Read our editorial standardsFind Medical Genetics And Genomics Specialists by City
Browse medical genetics and genomics specialists in top cities across the United States
Frequently Asked Questions
Common questions about medical genetics and genomics specialists
What is the difference between a geneticist and a genetic counselor?
A medical geneticist is a physician (MD/DO) who diagnoses and treats genetic conditions, can prescribe medications, and manages complex medical aspects of hereditary diseases. A genetic counselor has a master's degree in genetic counseling and specializes in educating patients about genetic risks, helping interpret test results, and providing emotional support. They often work together as a team to provide comprehensive genetic care.
How long does genetic testing take?
Turnaround time varies by test type. Single-gene tests typically take 2-4 weeks. Multi-gene panels take 3-6 weeks. Whole exome or genome sequencing can take 8-16 weeks. Prenatal testing results may be expedited. Some pharmacogenomic tests can be completed in days. Your genetics team will provide specific timelines based on the tests ordered.
Will genetic testing affect my insurance?
The Genetic Information Nondiscrimination Act (GINA) prohibits health insurers and employers from discriminating based on genetic information. However, GINA does not cover life insurance, disability insurance, or long-term care insurance. It's important to discuss these considerations with your genetic counselor before testing.
Should my family members be tested if I have a genetic condition?
This depends on the specific condition, inheritance pattern, and whether actionable interventions exist. For conditions like hereditary cancer syndromes, testing at-risk relatives can be lifesaving by enabling enhanced surveillance and prevention. Your geneticist can help determine which family members should be offered testing and facilitate this process.
What if genetic testing doesn't find a cause for my condition?
A negative or inconclusive result doesn't rule out a genetic cause. Current testing cannot detect all genetic variants, and our understanding of the genome continues to evolve. Reanalysis of existing data as knowledge advances, additional testing, or research studies may eventually provide answers. Your geneticist can discuss next steps and research opportunities.
Medical disclaimer: This content is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you have a medical emergency, call 911. Our editorial standards