Genomic Medicine

Genomic Medicine is an emerging medical discipline that uses genetic information about an individual to help develop a diagnosis or treatment plan. It permits doctors to customize medical care according to your body's unique genetic makeup, and is often referred to as tailored medicine.  

A genome is the complete set of "instructions" within our DNA that makes each of us unique. Genomic testing looks for variations in your DNA or RNA across expansive segments of your genetic material. Genomic Medicine relies on specialized genomic tests to identify your genetic variations or mutations that might be causing your disease. This information results in a more accurate diagnosis, and may allow your doctors to choose a therapy that specifically targets the underlying cause of your condition, potentially increasing the effectiveness of treatment and decreasing side-effects.

Although relatively new, Genomic Medicine has already made a significant impact in:

• Oncology 
• Pharmacology
• Rare and undiagnosed diseases
• Infectious diseases

Genomics at the UVM Medical Center

Patients at the UVM Medical Center with various cancers can currently benefit from this testing, and in the coming years patients with neurological and neuromuscular disorders, cardiovascular disease and other illnesses will benefit from this testing as well.

Prevention and Diagnosis

In addition to targeting specific diseases, our pathologists can review someone's entire genome for more than 1,000 conditions. Being able to see all of your genetic information can uncover whether you already have a disease or disorder, if you're prone to any, and what problems you might pass along to your children and grandchildren. 

This “whole genome” screening provides valuable information to aid in prevention, diagnosis and treatment. In coming years, all patients of the UVM Medical Center will have access to this screening. 

Pathology and Laboratory Medicine

The UVM Medical Center's Pathology and Laboratory Medicine department opened a Genomic Medicine Laboratory in 2017 to expand the types of diseases and conditions that can be tested.

The Lab will also allow pathologists to study how a person's genes affect their response to drugs. This will help doctors customize the types and doses of medicines they provide to specific patients. 

Genomic Research

The UVM Medical Center is planning to make Genomic Medicine a centerpiece for prevention and treatment for our patients. We will be performing ongoing research to better understand what concerns, perceptions, and questions patients and providers have about this relatively new area of medicine. 

Specific Services

• GenePanel Solid Tumor
• RNA and DNA Extraction (Genetic Testing Support for Inherited Disease or Inherited Risk)