Christine Eng, MD, on addressing barriers to exome and genome sequencing in clinical practice

Christine Eng, MD, professor of genetics at Baylor College of Medicine and chief medical officer and chief quality officer at Baylor Genetics, noted that several structural issues continue to affect the effective use of exome and genome sequencing in pediatrics.

She stated that “one of the biggest barriers is insurance coverage,” adding that while there has been “strong movement from payers and professional societies,” inconsistencies across plans continue to slow access. According to Eng, clinicians can support approval by documenting clinical features thoroughly and linking them directly to medical necessity.

She also highlighted ongoing progress: “In addition to the AAP guidelines with Medi Cal and other state Medicaid agencies that are now covering genome sequencing, we're starting to see much more meaningful progress in expanding equitable access for patients who need it most.”

However, she noted that challenges persist across different practice settings.

Practices vary in readiness to order and manage genetic testing

Eng explained that not all clinicians “feel fully equipped to order or to manage genetic testing or to manage the result of genetic testing.” She emphasized that laboratories are implementing systems to streamline the process and reduce these logistical hurdles.

According to Eng, comprehensive ordering pathways can “act as a step-by-step roadmap that guides providers on when to order a test, which test to choose, how to submit it, and how to act on the results so the right test for the right patient at the right time.”

She also noted that electronic medical record integrations, including Epic Aura, can reduce complexity and support consistent ordering workflows.

Logistical innovations aim to expand access

To address remaining barriers, Eng reported that laboratories are increasingly offering flexible options for sample collection and patient support. She described services such as in-home phlebotomy and noninvasive sample collection, stating that “our laboratory, as well as others, are offering other services that can help patients, including phlebotomy services in their homes or even non-invasive ways of collecting samples for testing, such as saliva samples or buccal swabs.”

Eng emphasized that “things are really evolving in terms of trying to make genetic testing something that is easily accessible to patients, and as we're expanding the indication, that's going to become even more important.”

Interpreting complex results requires expert support

Interpreting sequencing data continues to challenge many clinicians. Eng explained that variant significance is not always straightforward: “exome and genome sequencing generate really a lot of data, and not every variant is immediately clear in its clinical significance.”

She discussed the need for experienced laboratory teams to guide clinicians, stating that “our results aren't just data, but they're expert-guided interpretations.” She noted that each report is shaped by lab and medical directors who are faculty at Baylor College of Medicine, with the goal of creating clear reports that support clinical decision-making.

Eng concluded that such expert input helps clinicians “make confident and informed decisions for their patients.”

Disclosure: Eng is the chief medical officer of Baylor Genetics.

Reference:

Rodan LH, Stoler J, Chen E, et al. Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. Published online June 23, 2025. doi:https://doi.org/10.1542/peds.2025-072219