Genetics and Genomics

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About Genetics and Genomics

Genetics and Genomics at UMMC provides comprehensive genetic testing, counseling and consultation to patients diagnosed with, or suspected of having, an inherited condition. Our team is dedicated to evidence-based, compassionate and comprehensive clinical care. Our team includes a medical doctor/clinical geneticist, genetic counselors, nurse practitioner and registered nurse.

Genetic Counseling and Screening

We identify people who may have genetic conditions based on their personal and/or family history. Then we provide pre- and post-testing counseling. This includes screening and management recommendations based on family history and/or genetic test results.

Genetic Testing and Management

Because genetic testing can be complex, our team helps people understand what options to consider. We discuss appropriate genetic testing options, provide counseling on results and educate patients about the genetic impact on their personal and family health. Our team uses appropriate clinical guidelines and best practices for testing and health management. We also help identify family members who are at risk and are appropriate to test.

At UMMC, we are committed to making genetic testing as accessible and affordable as possible. Based on your insurance coverage, we work with trusted laboratories offering financial assistance programs to help make testing costs manageable.

The Genetics and Genomics team:

  • Identifies individuals who may have inherited conditions based on personal and or family history
  • Performs genetic screening or testing
  • Performs pre- and post-testing genetic counseling
  • Discusses screening and management recommendations based on test results
  • Offers condition-specific clinics for patients receiving care for diagnoses with genetic implications

The Difference Between Genetics and Genomics

Genetics focuses on specific genes and how they affect health. Genomics, on the other hand, looks at all of your genes together and how they interact with each other and the environment.

Think of genetics as reading one chapter of a book (like one specific gene), and genomics as exploring the entire library of books (your genome) to understand the broader story of your health. Both approaches help personalize care to meet your unique needs. And both services are available at UMMC.
An illustration of a DNA strand in glowing blue on a black background.

Genetics

To illustrate the role of genetics, consider the individual TTR gene. It plays a part in making a protein that helps transport substances in the blood. In about 3.4% of African Americans, a specific change (mutation) in the TTR gene can lead to a condition called hereditary cardiac amyloidosis. This condition causes abnormal proteins to build up in the heart, potentially leading to heart problems. Genetic testing can identify this mutation, helping to assess risk and guide care.

A representation of the human genome, illustrated by an anatomical figure of the human body surrounded by a swirl resembling DNA strands.

Genomics

Genomics examines the information as part of a bigger picture. In the case of hereditary cardiac amyloidosis, instead of focusing only on the TTR gene, genomics studies your entire genetic makeup to uncover other factors that may influence your heart health or your response to heart treatments.

Genetics and Genomics at UMMC

Services

Genetic Clinics

A smiling woman wearing a headset.

Making an Appointment

In most cases, your physician will need to schedule your appointment with our team. This can be a specialist who has specific questions about your care related to genetic testing. Or, if you have already been diagnosed with a genetic condition, you can ask your primary care doctor to make an appointment.

Once a patient is established with us, we can help family members if they are interested in genetic screening. An established patient’s family members can reach out to our office directly for an appointment.

Meet Our Specialists