Healthcare's Future Resides in Genetic Research and Genomic Testing

Genetic Research and Genomic Testing

Someday there will be an app on your smartphone that knows exactly what medicine will work best for you. It will warn you of your risk for developing certain diseases and offer a personalized plan for preventing them. It will even be able to determine your likelihood of passing on certain conditions to your unborn baby. Ultimately, it will increase your lifespan and help you enjoy a higher quality of life.


This will all be possible because of one thing: genomics.

What is genomics?

To understand genomics, you first have to understand the difference between genes and genomes. 

  • Genes are segments of DNA, or individual units of heredity inside each cell that tell the cell how to behave. (For example: “Make blue eyes.”) You have two copies of each gene — one from your mom and one from your dad. 
  • If a gene is an individual unit, a genome is the complete set of genetic information in an organism. Think of genes as letters and genomes as an entire dictionary. (Though in reality, the human genome is long enough to fill 400 dictionaries!)

Genomics is the study of genomes — specifically how your DNA functions and interacts within your body. Through genomics, scientists and researchers have sought to better understand how a person’s genes interact with each other and with their environment.

Precision genomics takes this one step further. Using genomic information, doctors can create more personalized healthcare options for individuals battling illness and disease. 

What is the purpose of genomics?

Human beings are more alike than they are different. In fact, research shows that humans are 99.9% identical in their genetic makeup. Understanding the remaining 0.1% holds the clues about detecting and preventing certain diseases. That’s where genomics comes in.

Genetic testing looks for inherited mutations in healthy cells. Genomic sequencing looks at genetic mutations in unhealthy cells. Here’s why that matters for your health:

In the past, if you were diagnosed with cancer, your doctor would most likely recommend a standard form of treatment that worked for most people. But these days, healthcare providers can provide a custom-fit treatment that’s based on your specific DNA. They do this by identifying mutations in certain cells.

Dr. Lincoln Nadauld, Chief of Precision Health and Academics at Intermountain Healthcare, put it simply. “[Precision genomics] means picking treatments for patients with cancer based on DNA changes in their cancer,” he said.

And having more effective, personalized treatment plans means:

  • A higher life expectancy.
  • Eliminating side effects from less effective medications.
  • A more accurate prognosis.
  • Higher quality of life for patients and families.

Genomics also helps identify certain health risks because these factors play a role in nine out of 10 of the leading causes of death. Knowing you’re at risk for diabetes or heart disease could help you take steps to prevent their onset.

How is genomics used in medicine?

Genomic medicine is changing the way doctors approach individualized patient care — particularly in the fields of oncology, pharmacology, and rare or genetic diseases.

1. Cancer treatment. Precision genomics improves cancer treatment by providing more targeted therapies that are personalized to each patient.

Intermountain has long been recognized for their role in leading cancer research. By collaborating with other institutions and sharing data, doctors are learning how to best treat cancer. And now Intermountain is leading the charge in precision genomics research. 

Through a variety of clinical trials, researchers study how different cancers respond to combinations of targeted treatment and immunotherapy (treatments that stimulate a person’s immune system to fight cancer).

2. Matching medication. If you’ve ever been concerned about the potential side effects of certain medications, pharmacogenomics can help.

Pharmacogenomics is the study of how genes can affect a person's response to medication. By studying your DNA, doctors can discover which drugs are most likely to work for you and what dosage your body might need. (This includes antidepressants, opioid pain relievers, heart medications, anti-inflammatories, antidiabetics, medications used before and after surgery, and more.) This process is called RxMatch testing. Pinpointing which drugs would be most effective for patients reduces the likelihood of negative side effects and repeat doctor visits.

3. Genetic counseling. Worried that cancer might run in your family? Want to know your chances of passing on conditions to your children? A genetic counselor can assess your family history and genetic test results to determine if you’re at risk of developing certain health conditions.

The National Society of Genetic Counselors suggests the following as good reasons to see a genetic counselor:

  • If you or a family member were diagnosed with or suspected of having a genetic condition.
  • If you are pregnant or thinking about becoming pregnant and have questions about your baby inheriting a condition.
  • If you have personal or family history of a birth defect, genetic condition, intellectual disability, or more than two recurrent pregnancy losses.
  • If you have a family history of certain types of cancer, multiple family generations affected by cancer, multiple primary cancers in the same person, or early age of onset of cancer (younger than 50).
  • If you have a family history of heart failure at a young age (younger than 50), more than one relative with the same type of heart disease, palpitations or abnormal heart rhythm at a young age, or sudden cardiac death.

The ultimate goal with each of these is to help patients live longer and better lives. The more you understand about your DNA, the better your chances for a high-quality life.

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What is an example of how precision genomics works?

To see genomics in action, consider one Intermountain patient’s story.

In 2013, Telitha Greiner had a colonoscopy that revealed cancer spread to her liver and lungs. A friend suggested she travel to St. George to see Dr. Nadauld, whose focus was extending the lives and quality of life for stage four cancer patients. 

“The genetic testing done by Dr. Nadauld revealed that one of the cancer drugs I was taking that had particularly painful side effects was not genetically effective,” Greiner said. “It wasn’t doing me any good and caused a very painful skin condition. I am so grateful to know that I don’t have to take it anymore and for the state-of-the-art care I am receiving at Intermountain.”

Like Greiner, many patients have benefited from Intermountain Precision Genomics. Its state-of-the-art TheraMap test offers genetic testing for patients who haven’t found success with traditional treatment options.

For Nadauld, each individual patient serves as a reminder of how important this research is.

Your role in genetic research

Though a lot of good has come from genetic research, there’s still much work to be done. With further research – prediction, prevention, and treatment can improve much faster. That’s where you have an opportunity to make a difference. 

In order to discover new connections between genetics and human disease, doctors and researchers are asking people to participate in the HerediGene: Population Study. This study is asking for 500,000 participants, including 50,000 children, over the course of five years. 

Why would you and your children want to participate?

Last year, Dr. Nadauld addressed the importance of HerediGene participation in a podcast episode of Thanks for Asking.

“There's extraordinary interest in this, primarily because it offers the opportunity to understand populations better and to start to predict the health across entire populations,” he said. “What that means is we could start to predict individuals in a population who might be at risk to get some forms of cancer or other individuals who might be at risk to have a heart attack or a stroke or to develop diabetes. And if we can predict that, then maybe we can work with those individuals to prevent some of those things from happening.”

HerediGene participants are helping us piece together clues that will help doctors save lives – and that could include your own.

If you’re interested in furthering genetic research and benefiting future generations, find a participating location near you. No appointment is necessary. Participation is voluntary and provided at no cost to you.

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Learn more about Precision Genomics

Genomics is changing the way doctors practice medicine and treat disease. In the coming years, many more people will have access to targeted therapies and medicine designed specifically for them.

But healthcare is not one-size-fits-all. Finding the best healthcare solution for you or your loved ones requires open and honest conversations with your doctor.

If you think precision medicine could be right for you, here are a few suggested tips for talking with your healthcare provider:

  • Ask your healthcare provider if they anticipate any potential problems with a precision medicine treatment. (Will your insurance cover it? How will it affect your quality of life?) Remember that it’s difficult to predict how any one person will tolerate a specific treatment.
  • Write down key points and things you need to do. You may want to record the conversation if your provider allows it.
  • Ask your healthcare provider to explain terms or tests you don’t understand. This reminds them to speak in plain language, so everyone knows what’s going on.
  • If it helps to see a visual, ask your provider for pictures or diagrams. You can also ask for online or print resources to further understand the information. 

If you have questions or you’re interested in learning more, visit the Intermountain Precision Genomics page for patients.