The Future of Genetic Testing: How a Love of DNA Led to More Comprehensive Tests 

For more than 30 years now, scientists at Myriad Genetics have been finding creative ways to coax new information out of human genes. The love for exploring the human genome has given us the foundation on which to build genetic tests that help people understand their risk of cancer, which mental health medication might work best for them, and which inherited diseases parents might pass on to their children. 

The human genome consists of a pair of DNA strands, each one with 3 billion building blocks — called nucleic acids — that together serve as each person’s genetic blueprint. Scientists represent each building block with a letter (A, C, G, or T), forming two chains of 3 billion letters for each person’s unique code. As we celebrate DNA Day on April 25, we honor generations of scientists who contributed to our ability to understand, read, and interpret genomes. 

Because all humans share 99.9% of our DNA, it’s the 0.1% that sets us apart that is most interesting from a health perspective. These tiny little differences, known as variants, are the pieces of our genome that determine whether we have an inherited disease, an increased risk of cancer, and many other traits.  

For a long time, the only variants scientists could spot in the genome were places where one single letter changed, such as an A where most people have a C. Most genetic tests today are focused on these single-base variants. Over the years, though, technology improvements have made it possible to detect more complex variants, such as large insertions or deletions of nucleic acids. Being able to see these other variants has helped explain longstanding questions about human health. 

Today, scientists are adding a whole new dimension to our understanding of DNA variation — something known as polygenic risk scores. These scores factor in signals from many different genes, weighing each one carefully to ascertain a person’s genetic risk for complex diseases in a more comprehensive manner. At Myriad Genetics, we are proud to be the first company that successfully incorporated polygenic risk scores for breast cancer into a genetic test cleared by the FDA. 

As we move into the future of genetic testing and precision medicine, we believe that polygenic risk scores will be a critical component of genetic testing in the future, and our research team continues to explore new ways to evaluate and deploy these risk scores for the benefit of all patients. These scores are especially important for ensuring that test results are reliable and informative for people of all ancestries. 

Genetic tests are far more complex today than ever before, and the addition of elements such as polygenic risk scores will only continue that trend. That’s why we join in the celebration of Medical Laboratory Professionals Week to recognize the scientists and technicians who work so hard to ensure that these tests are run properly and that accurate results are generated for each patient. Lab professionals play such an important role in the delivery of precision healthcare, and we are tremendously grateful to them. 

As we celebrate DNA Day and Medical Laboratory Professionals Week, we asked a few team members here to share their views on the future of genetic testing. Here’s what they had to say. 

Q: What’s one thing you think people should know in honor of DNA Day? 

• Kavita Bhat: In the United States, the first National DNA Day was celebrated in April 2003. This was to celebrate the completion of the Human Genome Project and the 50th anniversary of the discovery of the double helix structure of DNA. 
• Dennis Cook: The positive impact of genetic information on human life is only just beginning.
• Jeff Trost: DNA is the map to all life we know of.  Understanding of how each person’s DNA is the same and different from others has led to tremendous advances in life sciences from healthcare to food production.   

Q: Medical laboratory professionals might be considered the unsung heroes of precision medicine. What makes their work so important? 

• Kavita: Medical laboratory professionals are highly skilled and qualified professionals that perform ~13 billion laboratory tests in the United States each year. These tests drive a majority of medical decisions made by health care professionals.
• Dennis: Medical laboratory professionals are dedicated to patients, despite never encountering them. No more was this evident than during the most uncertain times of the global pandemic. These dedicated individuals continued to care for patients without disruption. 
• Jeff: Medical professionals have incredibly important jobs.  They assure us all samples are processed and tracked to the correct patient.  Medical professionals must pay acute attention to detail and it is their diligence that leads to correct results driving appropriate patient care. 

Q: What single trend or innovation do you see as most valuable for genetic testing in the future? 

• Kavita: Precision medicine in healthcare. 
• Dennis: I’m cheating by providing two in which Myriad Genetics is dedicated to leading the way: precision medicine and greater accessibility to underserved populations.
• Jeff: We are accumulating a large number of whole genomes that provide a database to find new targets for treatments for a wide range of diseases. 

Watch this video below to see what more teammates had to say about the future of genetic testing and precision medicine.