Summary

Baylor Genetics and Baylor College of Medicine have launched the Medical Genetics Multi-Omics Laboratory to innovate genetic testing, starting with Whole Transcriptomic RNA Sequencing to improve diagnostics for rare, undiagnosed disorders.

Takeaways

  1. Innovative Collaboration: Baylor Genetics and Baylor College of Medicine’s new lab aims to translate cutting-edge research into clinical diagnostics, focusing on high-risk projects with significant clinical impact.
  2. New Diagnostic Test: The lab’s first test, Whole Transcriptomic RNA Sequencing, offers comprehensive analysis of RNA molecules to identify disease-causing genes, enhancing diagnostic yield when combined with existing Whole Exome and Whole Genome Sequencing.
  3. Commitment to Personalized Healthcare: The collaboration highlights a commitment to personalized healthcare, leveraging deep expertise to transform healthcare and improve lives, particularly for patients with complex and rare genetic diseases.

Baylor Genetics, a joint venture clinical diagnostic laboratory at the forefront of genetic testing, and the Department of Molecular and Human Genetics at Baylor College of Medicine have entered a lab agreement focusing on innovation and high-risk projects that have potentially great clinical impact. This latest collaboration allows for the translation of cutting-edge research into clinical diagnostics, benefiting from BCM’s academic and medical expertise and the clinical diagnostic expertise of Baylor Genetics, in anticipation of larger scale launch when commercially feasible.

Lab Launches First Test

The new lab—the Medical Genetics Multi-Omics Laboratory (MGML)—launched its first clinical test, Whole Transcriptomic RNA Sequencing (WT RNAseq), that is offered to the Undiagnosed Diseases Network (UDN) and their affiliated institutions. The UDN is a decade-long research study funded by the National Institutes of Health that brings together clinical and research experts from across the United States to solve the most challenging medical mysteries and gain diagnostic answers for patients with rare, undiagnosed disorders. Baylor Genetics has served as the sequencing core for the UDN since its inception in 2014, providing Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), interpretation, validation and reporting for patients with complex and rare genetic diseases, as well as RNAseq on a research basis.1

Baylor Genetics Offers Clinical Reporting

Through this new relationship with MGML, clinical reporting of Whole Transcriptomic RNA sequencing will now be offered.  This new test, unlike targeted RNA Sequencing that is currently offered, does not focus solely on the interpretation of already identified variants by WES or WGS. In addition, it analyzes all RNA molecules expressed in skin cells and/or blood to identify disease causing candidate genes that may be missed by the initial analysis of WGS and WES.  Previous studies have suggested that this combined approach may increase the diagnostic yield of WGS/WES along by 10-17%.2

“This exciting collaboration with Baylor College of Medicine exemplifies our commitment to providing answers for patients and providers,” says Kengo Takishima, president & CEO, Baylor Genetics. “The future of healthcare is personalized, and the addition of Whole Transcriptomic RNA Sequencing ensures we’re meeting patients where they are. We remain dedicated to pushing the boundaries of genomics, leveraging our deep expertise and comprehensive insights to transform healthcare and improve lives, even in the most challenging cases.”

Channeling the Legacy of Discovery

Researchers at MGML intend to expand product offerings for both commercial and clinical settings—channeling Baylor Genetics’ and BCM’s legacy of discovery and rapid implementation so patients can access testing and treatment more quickly.

“This agreement, and the MGML lab, bring to life our vision of innovation, allowing us to co-develop new tests, evaluate in terms of clinical utility, and offer commercially in either a research or clinical setting,” says Brendan Lee, MD, PhD, professor, chair and Robert and Janice McNair Endowed Chair of Molecular and Human Genetics at Baylor College of Medicine, and Scientific Advisory and Board of Directors member at Baylor Genetics. “Baylor Genetics is turning around critical high-volume testing, but the challenge is also maintaining our innovative edge and our position as leaders in discovery and genomic health implementation. This agreement is a realization of the vision when Baylor Genetics was founded 10 years ago.”

Baylor Genetics is a joint venture of Baylor College of Medicine (BCM), which has the #1 NIH-funded Department of Molecular and Human Genetics, and H.U. Group Holdings, a leading Japanese clinical diagnostic testing company. All Baylor Genetics’ clinical and medical directors are faculty members of BCM.

Featured Image: Baylor’s Medical Genetics Multi-Omics Laboratory (MGML) launched its first clinical test, Whole Transcriptomic RNA Sequencing (WT RNAseq). Image: Baylor Genetics/Baylor College of Medicine

References

  1. Focus on the Undiagnosed Diseases Network | National Institute of Neurological Disorders and Stroke (nih.gov)
  2. Ketkar S, Burrage LC, Lee B. RNA Sequencing as a Diagnostic Tool. JAMA. 2023 Jan 3;329(1):85-86. doi: 10.1001/jama.2022.22843. PMID: 36525251.