Medical issues and perspectives

Global Trends

Advancements in genetic testing technologies, such as next-generation sequencing (NGS) and polymerase chain reaction (PCR), have significantly improved the accuracy, efficiency, and affordability of genetic analyses, driving the global market forward. Companies like Qiagen are leveraging these innovations, aiming for a 7% annual growth rate in sales until 2028 through their focus on PCR-based genetic testing machines and diagnostic tests for cancer and infectious diseases.
Cited Source: Reuters

The integration of artificial intelligence (AI) with genetic data is opening new opportunities in the sector. Tempus AI, a company specializing in AI-driven clinical and molecular data, has gained recognition from Wall Street analysts for its advanced diagnostic tools, which are anticipated to drive considerable revenue growth in the near future.
Cited Source: Reuters

India-Specific Trends

The genetic testing market in India is rapidly expanding, with the market valued at USD 69.24 million in 2024 and projected to reach USD 103.70 million by 2030, growing at a compound annual growth rate (CAGR) of 6.89%.
Cited Source: TechSci Research

The direct-to-consumer (DTC) genetic testing segment is also gaining momentum. It is expected to grow at a CAGR of 22.8% from 2024 to 2030, reaching a projected revenue of USD 154.1 million by 2030.
Cited Source: Grand View Research

Key Growth Factors in India:

• Increased Awareness: Growing public acceptance of genetic testing for diagnosing genetic disorders and diseases.
• Technological Advancements: Adoption of advanced technologies like NGS and PCR has enhanced testing precision and efficiency.
• Prevalence of Genetic Disorders: Rising cases of genetic and chronic diseases are fueling demand for testing services.
• Government Initiatives: Investments in healthcare infrastructure and personalized medicine are fostering market growth.

Conclusion

Globally and in India, the genetic testing market is set for substantial growth by 2025. Key drivers include advancements in NGS and AI integration, increased public awareness, and strategic healthcare initiatives.

 

 

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by mutations in the dystrophin gene, essential for muscle function. Without sufficient dystrophin, muscle cells weaken and deteriorate over time. DMD primarily affects males, as the dystrophin gene is located on the X chromosome. Females with one mutated copy of the gene are typically carriers but may exhibit mild symptoms. Mutations can be inherited from a carrier parent or occur spontaneously in families with no prior history.

Over 7,000 unique mutations in the dystrophin gene have been identified. Genetic testing, using blood or saliva, is critical for diagnosing DMD and identifying deletions, duplications, or small changes in the gene. Results are typically available within three weeks and are instrumental for patient care and family planning. Comprehensive testing detects mutations in 95% of cases, though additional tests may be necessary for others.

Companies like Sarepta Therapeutics, while primarily focused on developing DMD treatments such as Elevidys, also provide genetic testing resources and support through their patient assistance programs. 

Conventional DMD treatments include corticosteroids like prednisone and deflazacort, which slow muscle degeneration and improve motor function. Physical therapy, assistive devices, and respiratory support also play vital roles in managing symptoms and improving quality of life.

Recent advancements in gene therapy show promise. The FDA approved Elevidys in 2023 for children aged 4–5 years, with expanded approval in 2024 for older individuals. Elevidys delivers a modified dystrophin gene via a viral vector, producing a functional, shortened version of the protein. Administered as a single intravenous dose, it stabilizes symptoms and enhances strength. However, long-term efficacy and safety require further study, with some reports of severe immune reactions.

Ongoing research and innovation offer hope for better outcomes, empowering individuals and families impacted by this debilitating disease.