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Global Genomic Medicine Market is expected to grow at CAGR 21.2% by 2029 owing to demand from research institutes for precision medicine application, says Absolute Markets Insights

Published On 30 Jun 2021 11:42 AM


In June, 2021, Pacific Biosciences of California, Inc. who is one of the leading provider of high-quality, long-read sequencing platforms and Rady Children’s Institute for Genomic Medicine (RCIGM) announced that they are collaborating on a study which aims to identify potential disease-causing genetic variants and increase the solve rates of rare diseases. The study is focused on long-read whole genome sequencing of rare disease cases for which previous short-read whole genome and exome sequencing yielded no answers. The study, which is currently underway, was able to detect variants that were not identified by short-read sequencing (SRS); of these, an average of 37 was missense mutations in known disease genes.

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It was estimated that as many as 25 million Americans, approximately 1 in 13 people are affected by a rare, and often undiagnosed condition. In rare disease studies, conventional techniques for whole-genome and whole-exome analysis based on SRS typically led to identification of a causal variant in less than 50% of cases. Utilizing PacBio’s Single Molecule, Real-Time (SMRT) Sequencing technology to generate highly accurate long-reads, known as HiFi reads, clinical researchers have demonstrated that they can detect disease-causing structural and small variants missed by short-read sequencing platforms. This study is mainly designed to evaluate the rate at which HiFi sequencing identifies overlooked causal variation. This collaboration will bring HiFi Sequencing data to bear on some of their most difficult cases of rare pediatric disease and shall give solutions to individuals and families answers regarding potential underlying genetic variants, which may ultimately provide healthcare providers with insights to end their diagnostic odysseys. Also, it has been recently reported that American Journal of Human Genetics outlined the success of Project Baby Bear, a real-world quality improvement program designed to test the clinical and economic value of using rapid Whole Genome Sequencing (rWGS) to diagnose and guide treatment for infants with unexplained rare disease.

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The Rady Children’s Institute for Genomic Medicine used rWGS to analyze the genetic code of 184 infants in intensive care who were covered by Medi-Cal. The results provided doctors and families with crucial information that empowered them to make life-changing medical decisions resulting in shorter hospital stays, targeted personalized care and less costly, invasive procedures. Rapid WGS proved to be a valuable tool in clinical decision-making. Among the infants sequenced, rare genetic diseases that explained the baby’s admission to intensive care were diagnosed in 74 babies or 40%. Guided by the vital information provided by rWGS, clinicians were able to provide precision medicine that changed care for 58 babies or 32%. Conclusive diagnosis allowed doctors to make treatment plans with more confidence. Results from genome sequencing also empowered parents to join physicians in making informed decisions.

In addition to changes in treatment, rWGS resulted in avoidance of other costly procedures such as tracheostomies or gastric tube insertions that eliminated the need for further testing and led to fewer days in the hospital.

The Project Baby Bear was funded by the State of California as a US$ 2 million Medi-Cal pilot. Participation was limited to acutely ill babies enrolled in Medi-Cal who were admitted to intensive care between November 2018 and May 2020. The patient blood samples were sent to RCIGM for sequencing and interpretation from regional neonatal and pediatric intensive care units at the following participating hospitals: UC San Francisco Benioff Children’s Hospital Oakland; UC Davis Children’s Hospital (Sacramento); Valley Children’s Hospital (Madera); CHOC Hospital (Orange County) and Rady Children’s Hospital–San Diego. such a factor is expected to aid the overall market growth over the future years.

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The detailed research study provides qualitative and quantitative analysis of the global genomic medicine market. The genomic medicine market has been analyzed from demand as well as supply side. The demand side analysis covers market revenue across regions and further across all the major countries. The supply side analysis covers the major market players and their regional and global presence and strategies. The geographical analysis done emphasizes on each of the major countries across North America, Europe, Asia Pacific, Middle East & Africa and Latin America

Global Genomic Medicine Market

  • By Component
    • Gene Medicine
    • Platforms & Services
  • By Application
    • Oncology
    • Cardiology
    • Pediatrics
    • Endocrinology
    • Respiratory Medicine
    • Rare Genetic Disorders
    • Infectious Diseases
    • Diabetes
    • Others
  • By End Users
    • Hospitals & Clinics
    • Academic Institutes & Research Centers
    • Others
  • By Region
  • North America
    • U.S.
    • Canada
    • Mexico
    • Rest of North America
  • Europe
    • France
    • The UK
    • Spain
    • Germany
    • Italy
    • Nordic Countries
      • Denmark
      • Finland
      • Iceland
      • Sweden
      • Norway
    • Benelux Union
      • Belgium
      • The Netherlands
      • Luxembourg
    • Rest of Europe
  • Asia Pacific
    • China
    • Japan
    • India
    • New Zealand
    • Australia
    • South Korea
    • Southeast Asia
      • Indonesia
      • Thailand
      • Malaysia
      • Singapore
      • Rest of Southeast Asia
    • Rest of Asia Pacific
  • Middle East & Africa
    • Saudi Arabia
    • UAE
    • Egypt
    • Kuwait
    • South Africa
    • Rest of Middle East & Africa
  • Latin America
    • Brazil
    • Argentina
    • Rest of Latin America


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Press Release Provided By: Absolute Markets Insights