Clinical Interpretive Reports Make Genomics Accessible for NICU Physicians
Summary
- Rapid genomic sequencing can improve care for babies in neonatal intensive care units, but because of its infrastructure and technical requirements, it has often been limited to large academic medical centers.
- The Miller School’s Dr. Pankaj Agrawal is senior author on a study that found clinical interpretive reports are feasible and effectively communicate important genomic information to clinicians.
- CIRs break down genomic data to provide better insights into the mutations that may be causing a child’s condition and how to treat it.
Rapid genomic sequencing (rGS) can dramatically improve care for babies in neonatal intensive care units (NICUs), helping diagnose rare congenital diseases and sometimes outlining potential treatments. But because rGS requires extensive infrastructure and technical knowledge, it has often been limited to large academic medical centers.
Project VIGOR (Virtual Genome Center for Infant Health), a collaboration between Boston Children’s Hospital, the University of Miami Miller School of Medicine and other institutions, was established to help fill that gap. The organization provides support for small, community-hospital NICUs in underserved communities.
In its latest effort, Project VIGOR researchers tested clinical interpretive reports (CIRs) as a new way to share genomic tests. These write-ups simplify and expand upon genomic results to support better care. Published in the journal Genetics in Medicine, the study found CIRs are feasible and effectively communicate important genomic information.
“Many clinicians don’t have significant training in clinical genomics,” said Pankaj Agrawal, M.D., chief of the Division of Neonatology at the Miller School’s Department of Pediatrics and Jackson Health System and senior author on the study. “CIRs give them more accessible and actionable information, which they can then share with medical colleagues and families.”
Vital Information Improves Care
NICU physicians often don’t have the knowledge or time to interpret highly detailed genomic reports. CIRs break down the data to provide better insights into the mutations that may be causing a child’s condition and how to treat it.
“We are trying to help them make sense of what these results mean,” said Dr. Agrawal. “Everything goes into the report: how that genetic finding could affect the infant’s health, treatment and follow-up options, research.”
CIRs classify genomic variations as pathogenic, benign or VUS (a variant of uncertain significance). The VUS category can be particularly troubling for physicians. They often don’t know what to do with the information. The CIR reclassifies the VUS findings as:
• Likely of clinical relevance
• Indeterminate
• Less likely of clinical relevance
This subclassification should help give physicians better insights into a variation’s impact.
The study tested whether the VIGOR team could deliver detailed CIRs within three business days and also surveyed providers about their usefulness. Of the 100 CIRs distributed, 97 were delivered within the time frame. The average was 1.3 days. The surveys showed 93% of physicians accessed their reports and 99% found them useful.
Investigating Difficult Cases
One recent CIR highlights how complex these cases can be. The child was born with severe lung disease and other conditions. The genomic sequence showed variations in a gene called SRCAP, which has been implicated in developmental delays, behavioral challenges and other neurodevelopmental issues. Unlike the lab report, which was extremely confusing for the clinician, the CIR described the SRCAP variation in terms of what it meant for that child. The CIR suggested genetic counseling and other follow-ups, such as eye, hearing and neurological exams.
The study tested whether the VIGOR team could deliver detailed CIRs within three business days and also surveyed providers about their usefulness. Of the 100 CIRs distributed, 97 were delivered within the time frame. The average was 1.3 days. The surveys showed 93% of physicians accessed their reports and 99% found them useful.
Still, the child’s lung condition was not explained by this variant. There may be other mutations in play, and the VIGOR team will periodically perform further analysis as part of their ongoing follow-up. Genomic information grows daily, and new findings could shed more light on this child’s condition.
Dr. Agrawal points out that many aspects of a genetic disease may not manifest fully in early life. The CIRs help communicate this outlook so families and physicians can be forewarned. It gives them the full picture, both now and in the future.
“We want physicians and families to get a complete understanding of what the sequencing results really mean,” said Dr. Agrawal. “If they just get a lab report, and don’t know how to assess it, they’re going to miss key information. They may not realize how important it is to periodically check the child’s eyes, for example, which can lead to a bad outcome. We want to make all these relationships clear.”
Tags: Department of Pediatrics, Dr. Pankaj Agrawal, genetics, genomics, neonatology, pediatrics