A new guideline doesn’t change care

In the early days of my career as a neonatologist, group B streptococcus (GBS) was a feared infection. Infected newborns could deteriorate rapidly, leaving doctors to inform parents that their child was battling a life-threatening disease. However, research revealed that screening pregnant women for GBS and administering antibiotics during labor could significantly lower the transmission rate.

Although professional organizations issued guidelines, the adoption of these practices was gradual. It required years of refined guidelines, physician training, and standardized protocols before widespread GBS screening became part of routine prenatal care. My experiences in developing and implementing evidence-based guidelines across neonatal and population health programs have taught me a crucial lesson: guidelines are vital in directing clinicians towards optimal care, but they alone cannot ensure that care is delivered.

This realization is particularly relevant today, as medical advancements outpace the healthcare system's capacity to integrate these innovations into everyday practice. The gap between evidence and action is a critical issue that healthcare must address. While clinical research focuses on determining the effectiveness of a diagnostic or treatment, implementation science examines the subsequent steps required to ensure patients receive the recommended care.

GBS screening offers valuable insights into this gap. Initially, recommendations for GBS screening provided clinicians with multiple options. Over time, guidance became more definitive, with universal screening becoming the standard practice. However, guidelines were merely one component of the transformation. The healthcare system had to establish a reliable infrastructure around these guidelines.

The recommendation was translated into a clear workflow, with established timing for screening, a standardized test, straightforward results, and a well-defined intervention. Each step had to be clearly assigned responsibility until the process became routine. This example underscores the importance of addressing the implementation challenges as we consider the most promising advances in medicine today.

Genomic medicine presents a prime example of this challenge. Evidence supporting exome and genome sequencing has grown substantially, particularly for children with suspected genetic conditions. Clinical guidelines increasingly acknowledge the role of genomic testing in facilitating earlier diagnoses. However, implementing genomic testing in practice is far more complex.

Clinicians must first link subtle clinical signs to potential hereditary causes, navigate the process of matching symptoms to the appropriate test, guide families through pre-test decisions, and interpret complex findings to develop a personalized care plan. Once a diagnosis is confirmed, it necessitates a series of modifications to treatments, the establishment of surveillance protocols, and potentially the identification of at-risk relatives.

Each transition, however, presents an opportunity for barriers to be introduced. Operational hurdles such as insurance obstacles, limited access to specialized genetics professionals, and cumbersome documentation processes often overshadow the clinical benefits. Even the most robust guidelines will fail to influence behavior if the practical aspects make their implementation nearly impossible.

To ensure that medical innovation reaches patients, we must proactively design for implementation from the outset. We need to assess whether the right patients can be easily identified, whether clinicians can determine when testing is appropriate, if ordering is straightforward, if coverage is predictable, if the results can be comprehended and acted upon, and if there is a clear understanding of who is responsible for the next steps.

Crucially, the process must function not only in leading academic medical centers with extensive specialty resources but also in the environments where the majority of patients receive care. Today, we have tools that can expedite this transition. Clinical decision support can aid in identifying patients who may benefit from testing.

Digital ordering can alleviate administrative burdens. Artificial intelligence can assist clinicians in navigating complex information. Telehealth can expand access to genetics expertise. However, the ultimate goal should be to eliminate the friction between what medicine knows and what clinicians can realistically execute. Healthcare often discusses achieving the standard of care as if it occurs when sufficient evidence accumulates or a professional society updates its recommendations.

My experiences have led me to view it differently. A true standard of care exists when the right care is delivered consistently across physicians, health systems, geographical locations, and patient demographics without imposing undue effort on the clinician or patient. While guidelines are indispensable, they must be translated into coverage, workflows, education, and clinician confidence, as well as facilitate access.

The history of GBS screening demonstrates that evidence can revolutionize medicine, but it is only when we construct the systems that enable clinicians to act on this evidence that we can truly transform care. Genomic medicine is a more intricate implementation challenge, but the underlying principle remains the same. We have made significant strides in identifying what works in medicine.

Now, we must match our progress with the ability to make these advances a reality in the real world. Linda Genen, MD, MPH, serves as the chief medical officer at GeneDx.