How Changing Sequencing Technologies Are Improving Diagnostic Success — 2024 NEXT Report

May 7, 2024

Time to diagnosis is being cut significantly in many cases due to genomic testing, but there are still many challenges in getting a diagnosis, including diagnoses in underrepresented populations. The ability to uncover the underlying genetic cause of a disease with the state-of-the-art technology still is only
possible about 40 percent of the time. Another aspect being explored is sequencing RNA in addition to DNA. While DNA reveals the genetic blueprint of a person, RNA provides visibility into how the body uses those instructions to make proteins.

This is one of the several topics covered in the 2024 NEXT Report.

Download the 2024 NEXT Report

The NEXT report provides an overview of developments across the rare disease landscape and highlights trends in research, diagnosis, development, and treatment, as well as the changing regulatory and financial environment. Other topics covered include:

  • The need to think differently about the challenges for rare, ultra-rare, and hyper-rare conditions
  • The promise and challenges of emerging gene-editing and other genomic medicines
  • How non-profit and for-profit entities are crafting business models to enable sustainable development of N-of-1 therapies
  • The need for regulators to exercise their flexibility to address ultra-rare therapies
  • How drug developers or working to rethink payment models for one-time, curative therapies

Download the 2024 NEXT Report

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