Reposted from an article in GenomeWeb on May 6, 2024
It takes an average of eight years for babies and children with genetic and rare conditions to receive a diagnosis. For patients and families grappling with undiagnosed disease, life is a labyrinth of uncertainty.
Rapid Whole Genome Sequencing (rWGS) has emerged as a critical tool in clinical management, reducing costs, and avoiding the lengthy diagnostic process associated with genetic conditions, particularly in the neonatal and pediatric intensive care units. It is recommended by the American College of Medical Genetics and Genomics (ACMG) as a first-tier test for critically ill infants with congenital anomalies.
In this interview, Kengo Takishima, President and Chief Executive Officer of Baylor Genetics, discusses his company’s specialized expertise in precision diagnostics and the work underway to make tests like WGS accessible to all.
How can whole-genome and exome sequencing help shorten the diagnostic odyssey? What is being done to improve these tests for more challenging cases?
The diagnostic odyssey is a rollercoaster for patients, families, and clinicians facing complex medical conditions, often lasting years and spanning multiple medical specialties.
Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) can help. These tests are among the fastest and most comprehensive precision diagnostics tools available. Baylor Genetics has deep expertise in WGS and WES for patients in neonatal and pediatric intensive care units and patients with congenital anomalies and developmental delays as recommended by the American College of Medical Genetics.
As part of our focus on innovation, we’re expanding digital technologies, robotics, and automated workflow tools in our state-of-the-art 73,000-square-foot lab at the Houston Medical Center.
To scale up testing and improve turnaround time, we implemented an automated workflow with explainable artificial intelligence (XAI). This allows us to more effectively shortlist the top potential variants. We validated our process with 180 rare genetic disease cases previously evaluated and solved with WES and manual interpretation. The results were published in the June 2023 issue of Genetics in Medicine. In more than 93 percent of singleton cases, the top 10 XAI-generated suggestions included variants previously identified by manual curation. When exome data from both parents was available, the results reached 98 percent accuracy.
With over 250 scientific publications to date, Baylor Genetics researchers and scientists continue to raise the bar, leveraging highly curated datasets, scalable automated technology, and augmented intelligence to provide comprehensive genetic insights at scale. Most recently, we collaborated with Baylor College of Medicine (BCM) to advance the diagnosis of rare Mendelian disorders. The results were published in the April 2024 edition of the New England Journal of Medicine. We are committed to bringing the next generation of diagnostic intelligence into clinical practice — offering new hope for rare disease cases that have remained unsolved for years.
It can be a lengthy and laborious process to bring new medical technologies to market. How can we expedite this process to help more patients get timely answers and treatment guidance?
We’ve seen sweeping advancements in genetic testing over the past few decades, and in fact, many adult patients are living with undiagnosed diseases that would have been identified at birth today.
Today, we’re accelerating the rate of innovation with double-digit year-over-year growth. Among the enablers is our unique partnership with BCM, the top NIH-funded genetics program in the US, and H.U. Holdings, the number one clinical lab in Japan. Our 25 ABMGG certified, M.D. and Ph.D. lab directors serve joint appointments as faculty members at BCM. Dating back to the Human Genome Project, BCM and Baylor Genetics have been at the center of breakthroughs from cytogenetics to biochemical and mitochondrial genetics, prenatal screening, and whole genome and exome sequencing.
New technology is tripling our sequencing capacity. We processed more than two petabytes of sequencing data in 2023. We are partnering with leading life sciences, biotech, and pharma companies to go beyond genomics, applying specialized expertise in rare disease diagnostics, novel treatment therapies, and collaborative research to solve the most challenging medical mysteries.
Genetic testing is growing in utility, but we know many patients are being left out. How can we expand access?
Disparities exist in every aspect of healthcare, and genomics is no exception. Systemic barriers that have persisted for decades require sweeping policy and structural changes. We are not yet where we want to be, but access is improving.
With more than 4 million tests performed to date, Baylor Genetics serves top children’s hospitals, health systems, and clinics in all 50 states and 16 countries. We’re continually expanding our testing menu, ensuring that every patient who needs testing can have it.
Insurance coverage and reimbursement of genetic testing continue to expand. Over the last year, we signed eight new managed-care contracts, reaching nearly 20 million covered lives. We are also broadening our Financial Assistance Programs and offering more flexible payment options for outpatient clients.
At the same time, we need to make each step of the process of genetic testing easier, including ordering and test identification, sample collection, results reporting, clinical support, billing, and payment. As a result, we’re seeing a significant increase in the speed of verification of benefits and prior authorization.
Since 2014, Baylor Genetics has been the sole sequencing core partner for the National Institutes of Health’s (NIH) Undiagnosed Diseases Network (UDN), which brings together clinical and research experts to solve the most challenging cases using advanced technologies. To date, more than 2,240 UDN participants have been evaluated using whole-genome and whole-exome sequencing, with 30 percent being diagnosed.
We also support the work of The Texome Project, an initiative that bridges disparities in genomic medicine by making genetic services more accessible and equitable across Texas, particularly in underserved populations. Coordinated by Baylor College of Medicine through a grant from the NIH Human Genome Research Institute, the project focuses on closing the gap in genetic care caused by racial and ethnic divisions.
Together with our partners, we will continue to push the boundaries of genomics, leveraging deep expertise, comprehensive insights, and intense patient focus to help transform healthcare and improve lives.
Kengo Takishima is President and Chief Executive Officer at Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing and personalized care. Appointed in 2016, Takishima drives innovative growth strategies and cultivates a learning culture that places patients and customers at the center of the company’s mission to improve and transform healthcare. In March, Takishima was named a Life Sciences Voice Top Industry Leader. He previously was selected among the Top 25 Health Technology Leaders in Houston and Slice of Healthcare’s 50 Under 50 list of top industry innovators.
Takishima earned a master’s degree in international relations from The Fletcher School of Law and Diplomacy at Tufts University and an MBA from IE Business School in Madrid. He also completed the Advanced Management Program at Harvard Business School.
