In order to understand the underlying genetic health risks of their patient populations, more and more health systems are undertaking and utilizing population genomic screening approaches. These programs embark on the large-scale genetic screening of all-comer populations within a community that enables the use of actionable genomics insights at point of care. Evidence from these programs show that many people have inherited genetic factors that greatly increase their risk for disease, but many are being missed due to lack of family history of the disease, which is a common requirement for patients before they can receive genetic screening. For these types of programs to be as successful as possible, they must ensure implementation is optimized for impact on patient outcomes.
The Healthy Nevada Project, an initiative from Renown Health and DRI in Reno, NV, is one such population-scale genetic screening program. Participants are screened for three highly impactful genetic conditions, known as the CDC Tier 1 conditions, hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). Preliminary data showed that 1 in 75 individuals carry a variant for one of these conditions, and that 90% of carriers were unaware prior to participating in a population genomics project. The Healthy Nevada Project was initially designed and implemented with a participant-centric approach, with consenting individuals receiving their findings and deciding with whom and when to share those results. The findings were not automatically added to their electronic health record, rather they relied on the patient notifying their provider of their genetic findings after a genetic counseling session and assumed the provider would know what actions to take with those results.
71% of positive patients shared their findings with their providers; 90% with their family
Helix & Healthy Nevada Project scientists recently published research that evaluates the efficacy of participant and provider responses to the notification of positive CDC Tier 1 findings using electronic health records (EHR). Researchers surveyed participants to understand what they did with their results and then matched that with data in patient EHRs. Encouragingly 71% of patients with a positive CDC T1 finding, who answered the survey, indicated that they had shared their finding with their healthcare providers and more than 90% of respondents shared their findings with their family. However, a sufficiently specific genetic diagnosis appeared in the EHRs and problem lists of only 22% and 9% of the participants, respectively, which is an indication that the information did not impact the patient’s medical care. This shows that a care gap exists by solely relying on staff input of and notification within EHRs alone, and that there exists substantial opportunity to optimize provider and patient education and follow-up in order to ensure patients get the most use out of actionable genetic insights.
As a result of these learnings, Helix & the Healthy Nevada Project have implemented a number of operational changes to ensure individuals with positive CDC Tier 1 results and their providers can develop appropriate care plans. These approaches have become not only standard, but required practice for all population genomics programs that Helix has launched since. These include:
1. Integrating directly into health system EHRs and obtaining informed consent to report findings directly into the patient’s medical records to ensure that results are returned and shared broadly.
2. Providing medical education and digital tools to ensure physicians are ready to receive genetic information and can build the right action plans based on it.
3. Continued outreach to participants found positive for a condition and their providers to act on follow-up steps to effectively manage disease risk.
The integration of genomics into standard clinical practice demands that we make things as seamless as possible, and that we remove the burden from patients and providers by integrating into EHRs and providing clinician and participant educational tools. As we work towards administering precision care on a broader scale, it is critical that we continue to build on lessons learned through trailblazing projects like the Healthy Nevada Project.