Abstract
The expansion of precision medicine
Precision medicine is advancing quickly: In genomics, there are currently more than 160,000 testing products, with 30 new tests each day.1 Examples include: diagnostic testing to identify whether an individual has a specific genetic condition (e.g. cystic fibrosis); non-invasive prenatal screening to assess a pregnancy's risk for genetic conditions (e.g. Down syndrome); screening to determine whether an individual has an increased risk for developing cancers; and tumor analysis of cancer patients for genetic markers to determine which treatment would be most effective. It can be difficult for health care providers to determine not just which products they should adopt, but also how to routinely offer testing products to applicable patients. While difficult, adoption is important because it can reduce disparities and have financial benefits by reducing costs incurred by the health care system.
I was able to witness this challenge firsthand early in my genetic counselling career at a maternal fetal medicine specialty clinic in San Francisco. I have seen many patients referred by obstetricians; some were appropriately offered carrier screenings for certain disorders based on family history assessments, while others were missed. Initially, I thought those physicians weren't familiar with the relevant medical guidelines, but I soon realized after speaking with them that family history assessments are sometimes not offered. This could be due to numerous reasons, including lack of time due to a busy clinic day, or a sick day/vacation day outage for a clinical staff member who normally assesses family history.
Subsequently, I learned this issue was not just localized to obstetricians in San Francisco after visiting hundreds of women's health and oncology clinics across all 50 states over a decade when I later worked at a diagnostic startup laboratory. Many health care providers believe in the clinical utility of these novel genetic tests and began to offer them to a few applicable patients. They were unable to routinely offer these tests to everyone, however, due to time limitations. Time constraints include the time needed to ascertain who should qualify for testing based on medical guidelines; the time needed to understand the variations among payer policies and where some might also require prior authorizations; and the time needed to educate patients on the benefits and limitations of testing (e.g., non-invasive prenatal testing).
Precision medicine and health disparities
An inability to routinely assess which patients should be offered these novel tests can result in health disparities. For instance, less than 20% of women with a family history of breast, ovarian, tubal, or peritoneal cancer reported having a conversation about genetic testing with their health care provider2, where the U.S. Preventive Services Task Force has clear recommendations for primary care providers.3 Furthermore, Black women are 16 times less likely, and Spanish-speaking Hispanic women two times less likely, to discuss genetic testing with a health care provider compared with non-Hispanic white women.4
Fortunately, in the last few years, software tools are now available to support health care providers in reducing this disparity in genomics.5,6,7 One study found a chatbot digital health tool helped health care providers by collecting personal and family cancer history from patients directly for hereditary cancer risk triage,8 64% of patients engaged with the tool, the vast majority completed the risk assessment (89%), and most completed the genetic testing education (71%). These tools, often co-developed with genetic counselors, can assist health care providers in consistently offering novel genetic tests to applicable patients.
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Additional benefits of precision medicine technology
Diagnostic laboratories that are developing these tests also benefit financially from the adoption of these tools because it increases “same-store-sales,” the test orders the labs receive from each of their health care provider customers. Furthermore, these tools will reduce the likelihood that tests are ordered inappropriately, which would likely lead to lower revenue due to denials from payors.
Health plans can also benefit if these softwares make recommendations in compliance with those health plans' medical policies. Efficient software could reduce the overhead burden of requiring prior authorizations, handling appeals, and denials. Unfortunately, the vast majority of these software tools are not currently covered by health plans. Most of the uses of these softwares are subsidized by diagnostic laboratories, given they would benefit from the immediate increase in test orders among their existing health care provider customers. Some health care providers are willing to pay out-of-pocket themselves with the time-savings such platforms can provide. Given that more than 90% of the U.S. population is covered by health insurance, health plan coverage for these software tools is essential to increase adoption.9
Many of the digital platforms in genomics are considered clinical decision support (CDS) software, (tools that enhance decision-making in the clinical workflow for health care providers and patients10), and they are coming to market in other specialties as well. These include tools that analyze computed tomography (CT) results in order to notify health care providers of a potential stroke in their patients11, tools that analyze patients for diabetic retinopathy12, and technology that can intake patients' records to produce personalized treatment options.13 The adoption of precision medicine will increase significantly with the support of such tools for health care providers, while helping to ensure equitable access for patients.