Genomics: Preventing and finding disease earlier across populations
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In this article:
Genomics, the study of genes and their interaction with the body and environment, makes it possible to predict, detect and treat disease to deliver more personalized care.
Geno4ME, the Genomic Medicine for Everyone program, provides whole genome sequencing with clinical results that detect genetic risk for diseases that can be prevented or treated.
Genomics research could help reduce global health inequities and lower the overall cost of health care.
In many cases, timing is the most difficult part of treating an illness. Discovering cancer, cardiovascular disease, or another ailment in its advanced stages often leads to more complicated, invasive therapies. Even worse, delays can also mean poor outcomes for patients.
Fortunately, genomics — the study of genes — is opening the door to earlier detection and prevention. Providence Genomics and its Clinical Genetics Clinics are at the forefront of empowering patients with proactive and personalized care through personalized and precise plans of care.
“It’s our commitment to our patients and communities that inspires us to develop and invest in programs that allow us to be on the forefront of innovation,” says Bill Wright, vice president of health innovation research at Providence. “Imagine a world where prevention comes first, and disease is caught earlier. We believe genomics and personalized medicine can drive better health outcomes.”
These initiatives have the potential to help you and the 5 million other patients Providence providers serve in our 52 hospitals in seven states.
Genome4ME: A personalized approach to population health
Providence is committed to providing a more personalized approach to care for everyone in the health system. To reach that goal, we launched the Geno4ME program (Genome for Me) in 2021. Also known as Genomic Medicine for Everyone, this initiative focuses on making whole genome sequencing accessible to all patients, particularly those individuals from under-represented and underserved groups.
“The mission of Geno4ME is to truly provide genomic medicine for everyone at multiple points of care in our health system”, explains Ora Karp Gordon, MD, MS, FACMG, Regional Director Southern California, Clinical Genetics and Genomics and Clinical Director, Population Genomic Program, Providence. “We’re doing this by finding innovative ways to meet patients where they are, identify their risk and integrate those findings meaningfully into the electronic health record so that their provider can provide seamless, personalized care.”
The hope is that the program will be accessible to every patient who can benefit, says Kate Emery, MS, CGC, Providence Genomics senior program manager,
“We’ve tried to make it easy for all patients to participate,” she says, noting that the program has a multilingual e-consent and educational platform. “We want to make sure we are reaching and engaging patients who may have historically been left out of genomics.”
Through our outreach efforts, approximately 50% of the participants currently enrolled in Geno4ME are from communities of color or from underinsured communities. To achieve this, Providence created a new technology platform called Propel Genomics, which is redefining how study participants learn about and participate in this type of ground-breaking program.
At present, Emery says, Geno4ME tests and provides clinical results for nearly 80 genes, including ones linked to increased risk for cancer, cardiovascular disease, or how a person’s genes affect their response to certain types of drugs. Importantly, all the inherited diseases screened for by Geno4ME have guidelines for prevention or early treatment when detected early.
Personalizing care with precision medicine
The power of whole genome sequencing is being able to detect multiple conditions from a single test. As part of Geno4ME whole genome sequencing, screening is provided for inherited diseases and pharmacogenomics. Genetic counseling is also made available to help participants understand their results.
Inherited disease screening: As part of Geno4ME, you provide either a saliva or blood sample. Your test results reveal whether your genes put you at higher risk for possibly developing certain inherited diseases, including various cancers and some cardiovascular conditions. Keep in mind that whole genome sequencing can’t tell you if you’ve already developed a disease — or if you ever will. What it does tell you is if you have a higher risk. For example, approximately 1 in every 50 people have a genetic risk for inherited cancer or heart disease. With this knowledge, your provider can design a proactive and personalized health plan.
Pharmacogenomics: Using the same blood or saliva sample, this screening looks at how your genes impact the way your body responds to various medications. In some instances, your genetic makeup can make certain drugs unsafe or less effective. Geno4ME screens four specific genes — three that affect how your body processes medication through the liver, and one directly related to blood clotting. The blood clotting gene may impact one or more of the seven most prescribed drugs in primary care.
Once complete, your health care provider receives your results. They can use the genomic information, along with your age, lifestyle behaviors, and other medicines you take to decide if a new medication will be right for you. Providence anticipates that all Geno4ME participants will discover if certain medications are safer or more effective.
Genetic counseling: Once testing is complete if your results show an increased risk for an inherited disease, the Geno4ME program offers genetic counseling to help you understand how your results can affect you and your family. A genetic counselor will work with you to develop an action plan so that you can proactively manage your health and future health decisions.
“We really want our patients and providers to be informed and feel supported throughout the entire process — from screening through any post-tests and receiving their results,” Emery says. “So, that includes genetic counseling, pharmacist support for patients, and educational resources and peer-to-peer support for providers.”
Developing new treatments for disease
Alongside giving you answers about your potential risk for multiple inherited diseases, Geno4ME is tackling an even bigger concern — population health, the quality of health within the community. In fact, the first-ever Geno4ME study findings were recently presented at the American Society of Human Genetics annual meeting.
Beyond finding ways to expand the reach of genomics across diverse populations and augmenting the knowledge gained from individual results, at least 59 participants, to date, have learned that they have an increased risk of cancer that can be prevented or reduced through early intervention. For example, one participant learned they had Lynch syndrome, an inherited condition that increases a person’s risk of colon, uterine, and other cancers at younger ages. The participant started colonoscopy screening much earlier than the general population. They also informed their family members so they could also receive genetic testing for the genetic variant and make a more tailored plan for their health.
“If we can make risk more visible, and if we can quantify it, then we can advise our patients and provide risk reduction,” says Sandra M. Brown, MS, LCGC, regional manager of genetic medicine at Providence St. Joseph Hospital.
To continue the push in that direction, Wright says, Providence is continuing to study how genes impact disease risk. Currently, there are more than 2,500 clinical trials that are accepting new patients. In addition, Providence researchers published roughly 2,000 studies last year. This information can help health care providers make the most knowledgeable recommendations for their patients.
“The groundbreaking research we do at Providence helps us innovate across the care continuum from prevention to early detection to treatment and cures," he says. “This is how we learn not just about what works but what works for whom and under what circumstances. This is how we move health care forward.”
Innovate. Learn. Share.
The success and scale achieved at Providence Genomics is available to other health systems, labs, and partners. Providence has commercialized the Propel Platform to help organizations manage the complexity of launching their own genomics programs, including consent and onboarding patients and providers.
“Achieving health for a better world requires that we all innovate, work together, and share what we’re learning,” says Sandra Andrews, SVP and Chief Operations Officer for Providence Clinical Care. “We believe the Propel Platform can help others accelerate their ability to move genomic programs into care—everywhere.”
According to Dr. Gordon, Providence’s work in genomics could open the door to more innovative health care.
“We are at the inflection point of what’s to come in this new era of personalized medicine,” she says. “When every person's genomic information is available to themselves and their doctors, it will empower them to act in a preventive way. This will finally change health care from a focus on disease to wellness.”
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This information is not intended as a substitute for professional medical care. Always follow your health care professional's instructions.