Navigating the path of genomic medicine: Insights from an early detection program

March 21, 2024

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  • Genomic medicine offers significant promise for more effective prevention and treatment of cancer and other diseases.
  • Patient perspectives are essential as health systems implement new genomics processes and engage patients in genomic screenings.
  • An analysis of a pilot genomics screening program at Providence offers insights to help healthcare organizations partner with patients to improve outcomes through genetic testing.

Recent advances in precision medicine offer significant promise for more effective prevention and treatment for patients, including those at higher risk of cancer. Yet for patients, new screenings and processes may seem like just another step in the already confusing healthcare journey. As more healthcare systems and providers launch new programs focused on genetic screening and testing, it's critical to understand the patient experience and shape data-informed strategies to address and overcome barriers to patient participation and follow-up care. 

A research project from the Center for Outcomes Research and Education (CORE) offers insights to help put patient perspectives front and center and shape how healthcare organizations partner with patients to improve outcomes through genetic testing. Let's look at CORE's research into an early detection and prevention program at Providence, one of the United States' largest health systems.  

Read on for highlights, or read the executive summary here 

Studying early detection and comprehensive risk evaluation at Providence 

In 2020, before launching its own early detection program called Prevention4ME, Providence pilot-tested a Comprehensive Assessment Risk and Education (CARE) program at six Southern California mammogram sites. CARE used digital health tools and artificial intelligence to integrate preventative precision medicine with routine care to identify patients with an increased lifetime risk for cancer and pinpoint candidates for genetic testing. The program also provided patients with genetic testing education and the opportunity to undergo expedited genetic testing at their routine annual mammogram screening appointment. A genetic counselor oversaw the testing and provided a post-test genetic counseling appointment to review results and conduct a formal risk assessment. 

CORE studied the program implementation, examining diagnoses, procedures, surgeries, and medications related to the early detection and prevention of breast cancer in 9,176 patients who had completed a CARE assessment. Interviews were conducted with 26 patients who had recently received mammograms and completed the CARE program at the six sites. Medical records data and interviews were used to: 

  • Capture a snapshot of the early detection program and patterns of follow-up care from patients' perspectives and through data from the CARE portal and electronic health records. 
  • Highlight the barriers and facilitators to successful engagement in the program to help support the uptake of precision medicine and follow-up care among patients. 
  • Identify recommendations for program improvement and suggestions to increase patient engagement at each step of the process. 

CORE's recommendations: Connect, clarify, prepare and support 

CORE’s patient interviews and healthcare utilization research yielded key insights for shaping more effective genomic medicine programs. Findings emphasized patients' need to understand the benefits and processes associated with genomic screenings and findings. They also highlight the importance of clear, repetitive, and effective communication and guidance from trusted healthcare providers about next steps and treatment options.  "I'm not even sure what genetic testing entails. Is it a blood test? Is it a biopsy kind of thing" - quote from participant that didn't get tested after recommendation.

These insights and other data reviewed by the researchers led to the following recommendations: 

Engage patients who should test: Patients who met specific criteria for testing but did not participate in the test generally had lower engagement in follow-up screening procedures. Identifying strategies to reach this group and help them connect to their healthcare providers may help further reduce cancer risk. 

Connect the dots: Patients want to know the benefits of moving forward with the process and how additional knowledge will improve their understanding of their cancer risk and the healthcare they receive. 

Clarify next steps: Patients need clear communication and guidance throughout the process, particularly from their trusted healthcare providers. Patients may have to hear these messages multiple times from different sources before they're ready to act. 

Prepare for a positive test: Fear of a positive test may deter some patients from testing. More information about treatment options, matters to consider before testing (e.g., life insurance) and additional opportunities to ask questions may improve this experience. 

Support links to follow-up care: While many patients engage in preventive mammograms, connection to other types of enhanced screening could be promoted. After a positive test, facilitating a warm hand-off to patients' primary care providers and specialists may offer needed support during a potentially difficult time. Working to align providers and payers on recommended care guidelines may also improve uptake. 

The power of patient experiences 

One of the unexpected revelations from the research was the power of viewing the patient experience through their lens. While providers may see genomics programs as exciting and innovative, patients may not be aware of their significance. This underscores the need to treat patients as true partners, walking with them through the process and conveying information in understandable and accessible ways. 

The journey of patient participation in genomic medicine is evolving, and early detection programs stand at the forefront of this transformation. CORE's research sheds light on the nuances of patient experiences and provides insights to inform future strategies for healthcare organizations, including shaping the launch of Providence Genomics' early detection program Prevention4ME. By connecting the dots, clarifying the next steps, and fostering trust and guidance, we lay the groundwork for a future where precision medicine becomes an integral part of improving healthcare outcomes for all. 

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