[22 MIN LISTEN | 3 MIN READ]
In this article:
- Genomics and genetic sequencing are driving a new era of precision medicine.
- Understanding your genetic makeup empowers you to make more informed health care decisions.
- The Providence Geno4ME study will help clinicians better understand risk factors of individual patients.
Genomics is a complex field of medicine with transformative and democratizing powers that are ushering in a new era of personalized care. Using technologies such as AI and machine learning, clinicians and scientists can now map the DNA of individuals in a matter of days and gather insights to help identify changes in specific genes that could be problematic, leading to targeted treatment plans to prevent diseases before they have a chance to manifest.
We recently sat down with Dr. Ora Gordon, a self-proclaimed preventionist, to learn about Providence investments in genetics and genomics. From the role biomarkers play in creating targeted treatments for individuals to the launch of a study called Geno4ME to sequence the genetic makeup of 5,000 adults in 2021, Dr. Gordon offers an informed glimpse into the future of personalized medicine.
You can listen to the full conversation (22:00) directly below or scroll down for key highlights from the conversation.
What are genetics and the field of study called genomics?
DNA is the blueprint for who you are; it is the roadmap for all our cells that make us human. Genetics seeks to understand the changes in DNA that could cause a wide variety of diseases. It looks for anomalies in cells and can help clinicians identify and treat diseases before they become life-threatening. Genomics is the all-encompassing field of medical inquiry that looks at everything that determines how you function as a human. It’s worth noting that we are still very much in the discovery phase of understanding how to utilize the full potential of genomics to prevent and treat diseases.
“We all have 99.9% of our DNA that is exactly the same, yet there is wide variability in height, eye color, susceptibility to disease, response to medication, and so on. This variability is what makes us unique.”
How has the genomics field evolved?
It was a combination of technological breakthroughs that allowed for high-fidelity gene sequencing which is referred to next gen sequencing (NGS). and the ability to turn these insights into treatments at a fraction of the historical cost in less time. The ability to rapidly translate at scale insights that can lead to more personalized care at a fraction of the cost and time has been the biggest transformation. Dr. Gordon offers her perspective on the evolution of genomics below.
Moreover, the awareness around genomics in the prevention of cancer really gained center stage when Angelina Jolie first announced that she was a carrier of a hereditary gene called BRCA, a marker for breast cancer. Couple technological advancements and the awareness-raising platform of a major celebrity, and now it was easier to have “dinner-table” conversations about genetics and the value they can bring to predicting future illnesses.
“First efforts to sequence a single human genome cost a million dollars and took months to complete. Today we can do more advanced sequencing for less than a thousand dollars and turn around the insights in days.”
What does patient-centered care mean to you?
We hear a lot about patient-centered care, which means creating care journeys for individual patients based on their unique situation. It’s important to know that genetics as a field of medicine has always been patient-centered, individualized care. With genomics, we can help patients make the best healthcare decisions for themselves.
“We are really trying to shift from reactive medicine to proactive. If you find out you are a carrier for hereditary cancer after you present with prostate cancer at age 40, I have missed my window…I want to know before you get cancer so I can intervene to prevent it or detect it at the earliest stage.”]
What is Geno4ME study?
The Geno4ME (Genomic Medicine for Everyone) study is a brainchild of many clinical investigators driven by Providence leadership and me over several years to meaningfully bring genomics into everyday care for our patients. We want to bring genomics to all of Providence patients so we can realize the vision of holistic personalized care. The study seeks to enroll 5,000 adult patients in 2021 to do whole genome sequencing. Once enrolled, participants provide a blood or saliva sample that will be sequenced to return three groups of results:
- Cancer risk susceptibility
- Cardiovascular disease risk
- Pharmaco-genomics (insights on how DNA interacts with medicines)
Dr. Gordon explains the importance of knowing your genetic history below.
The goal is to use the findings to help the study participants get comfortable with knowing their own genetics and be able to use their individualized results to identify risks and work with their doctors to prevent diseases before they start.
“Thanksgiving should be family history day, and when you get together bring along a white board or a piece of paper and use the time to get collective information to understand your family history and what you might be at risk for.”
Genomics is a promising medical field that can help Providence caregivers understand how to develop individualized treatment plans for every patient. Moreover, understanding their genetic makeup and the associated risks makes genomics an empowering tool for patients to have more open and transparent conversations with their care team.
Learn more about genetics and genomics and the Geno4ME study.
Related resources
Defining the future of personalized care with genomics
Genomics & biomarker testing matter: They can indicate cancer and other diseases
Dr. Walter Urba shares his personal path to Providence
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