BCM receives $3.5 million to study telehealth genetic services for sick, underserved newborns

Advances in genomic medicine have improved diagnoses and care of sick newborn babies in neonatal intensive care units, but many medical centers across Texas lack access to resources necessary to provide this care. Baylor College of Medicine has received a $3.5 million from the National Human Genome Research Institute for the MAGNET (Making Genomics Accessible to Newborns in Texas) program to study how to overcome challenges in the implementation of in-patient genomic medicine in neonatal intensive care units in under-resourced healthcare communities.

“Only 20 years ago, less than 3% of genetic conditions in newborns could be molecularly diagnosed,” said co-principal investigator Dr. Brendan Lee, professor and chair of the Department of Molecular and Human Genetics and Robert and Janice McNair Endowed Chair in Molecular and Human Genetics. “Today, with routine genomic tests at academic medical centers, more than one-third of these cases can be diagnosed with state-of-the-art approaches. Unfortunately, many babies born at smaller hospitals lack access to genetic evaluation and testing, remain undiagnosed and are unable to benefit from early personalized medical treatment.”

The MAGNET program aims to improve genetic diagnoses of sick newborns in NICUs at hospitals across underserved regions of Texas using low-cost whole genome and RNA sequencing technologies. The program will adapt Consultagene, Baylor’s online outpatient genetic services platform, for in-patient return of results, virtual genetic counseling and provider consultation. Educational videos will be available in English and Spanish.

“We have successfully used the Consultagene platform to improve access to care for Hispanic children with rare diseases at the Texas-Mexico border through Project GIVE since 2022. The MAGNET program now gives us the opportunity to deliver advanced genomic care to critically ill newborns in this region with limited resources,” said co-principal investigator Dr. Seema Lalani, professor of molecular and human genetics at Baylor.

The program will establish a consortium of clinical partner sites at underserved neonatal intensive care units in West and South Texas. On-site providers will be trained in using genomic medicine tools and incorporating interpretation of genomic data into clinical decision making for more rapid integration of personalized treatments for genetic diseases. As part of the program, Baylor researchers also will study the impact of access to these resources on patients, families and providers.

“By studying how access to advanced genomics services affects critically ill newborns and those involved in their care, the MAGNET program seeks to develop best practices for implementing cost-effective, comprehensive genomic platforms like Consultagene in under-resourced settings. Understanding how best to implement programs like this can inform broader efforts to close gaps in healthcare access and equity,” said co-principal investigator Dr. Stacey Pereira, associate professor in the Center for Medical Ethics and Health Policy at Baylor.

This work is funded by a National Human Genome Research Institute grant (1R01HG013428-01A1).