What is genetic and genomic medicine?

August 9, 2023 Providence Center for Clinical Genetics and Genomics


In this article: 

  • Genetic testing can help you understand if you’ve inherited a genetic mutation that increases your risk for cancer or other diseases.  

  • At Providence, our genetic counselors help you understand what your genetic testing results mean, offering you insights into your risks for hereditary cancers and other familial diseases such as inherited cardiovascular disease. 

  • Genomic medicine identifies and tracks patterns in the interactions between genes and the environment, allowing researchers to find better ways to prevent disease and improve overall health. 

What is genetic and genomic medicine? 

Knowing what’s in your DNA can tell you a lot. From learning your risk for developing certain diseases to understanding how your body will respond to specific medications and treatments, genetic and genomic medicine allows doctors to tailor therapies or prevention plans to your unique genetic makeup.  

Genetics vs. genomics: What’s the difference? 

Although genetic medicine and genomic medicine are both important to health and disease, the roles they play are a little different.  

Genetics is the study of genes, which are specific segments of DNA that tell cells how to function. Parents pass their genes on to their children. Genomics is the study of the genome, which is the complete set of genetic material inside an organism.  

People are nearly identical when it comes to their genetic makeup, meaning their human genome is mostly the same. Yet the 0.001% of genetic variations between individual genomes accounts for differences in things like eye and hair color — and health. 

Just like parents pass on their eye and hair color to their children, they can also pass on a higher risk for developing certain diseases, like cystic fibrosis, muscular dystrophy, heart disease and up to 10% of all cancers. The disease itself isn’t passed on, but the risk of developing the disease is.  

What is genetic testing? 

Through simple blood and saliva (spit) samples, doctors can analyze your DNA. These genetic tests can show if you’ve inherited a genetic mutation that increases your risk for cancer or other diseases. For example, if you test positive for having a mutated BRCA1 or BRCA2 gene, it means a parent passed the mutation on to you, and you have a much higher risk of developing breast cancer and several other types of cancer.  

Your doctor can help determine if genetic testing is right for you by asking questions about your personal and family medical history. If a family member was diagnosed with breast, colon, uterine, kidney or prostate cancer before age 50, for instance, or had more than one type of cancer, you may be a good candidate for genetic testing.  

What is genetic counseling? 

Your doctor may refer you to a genetic counselor, a qualified genetics professional who can help you understand the results of your genetic testing and what they may mean for your disease risk.  

Genetic counselors can also help design a personalized plan for you to reduce your risk. Plans may include everything from lifestyle and wellness programs to medications and surgical options, like a prophylactic mastectomy, which removes one or both breasts to lower the chances of getting breast cancer.  

How is Providence using genetic testing to help patients? 

At Providence, we’re here to offer insights into your risks for hereditary cancer and other genetic diseases. We also help individuals and couples who are interested in undergoing genetic testing before conceiving to learn about potential risks for the unborn baby. 

We offer services to anyone with a personal or family history of inherited forms of: 

  • Asthma 
  • Cardiovascular (heart) disease (including coronary artery disease, diabetes, high blood pressure and high cholesterol) 
  • Hemophilia 
  • Hereditary cancers (including breast, lung, ovarian, uterine, colorectal and prostate) 
  • Hypothyroidism 
  • Neurological disease (including Alzheimer’s, Parkinson’s and epilepsy) 

Our services include: 

  • Risk assessment and consultations 
  • Genetic testing  
  • Genetic counseling 
  • Personalized medicine (or precision medicine), management and prevention plans 

What is genomic medicine? 

While genetic testing dates to the 1950s, genomics is a more recent field. In 1990, the Human Genome Project — an international effort to identify, map and sequence all the genes of the human genome — began. It was completed in 2003

Genomics research expands the scope of genetics. Instead of studying diseases like asthma and cancer only through the lens of changes to a person’s DNA, researchers study these health conditions with the understanding that they’re commonly caused by a combination of genetic and environmental factors — not individual genes alone.  

With this knowledge, we’re able to use more ways to improve a person’s health and prevent disease development or progression. Things like modifying diet and incorporating exercise to prevent or delay the onset of Type 2 diabetes in people who have an increased genetic risk of developing the disease, for example. 

By identifying and tracking patterns in the interactions between genes and the environment, researchers are introducing treatments for disease that are more targeted than ever before — meaning more personalized patient care. 


Find a doctor 

Interested in genetic testing? Search for a doctor who’s right for you in our provider directory

Download the Providence App 

We’re here for you, wherever you are. The Providence app is your personalized connection to all your health-related needs. Schedule appointments, conduct virtual visits, message your doctor, view your health records and more. Learn more and download the app

Related resources 

Which cancer screenings should you undergo? 

Genomics: Preventing and finding disease earlier across populations 

Defining the future of personalized care with genomics 

This information is not intended as a substitute for professional medical care. Always follow your health care professional’s instructions. 

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