Quest Diagnostics Innovates Ataxia Testing with Advanced Genetic Technology and PureTarget Sequencing
- Quest Diagnostics launches an advanced ataxia test using PacBio’s PureTarget sequencing to improve genetic diagnosis accuracy.
- The test serves as a confirmatory tool, enhancing diagnostic processes for ataxia following initial PCR screening results.
- Quest Diagnostics aims to expand its genetic testing capabilities, reinforcing its commitment to innovation in healthcare diagnostics.
Quest Diagnostics Enhances Ataxia Testing with Advanced Genetic Technology
Quest Diagnostics, through its specialized division Athena Diagnostics, unveils an innovative laboratory-developed test that leverages PacBio’s PureTarget sequencing technology to identify genetic causes of ataxia. This group of progressive neurological disorders impairs movement and coordination, affecting approximately 26 out of every 100,000 children, with genetic factors accounting for 10 of those cases. The new test addresses a significant gap in conventional sequencing methods, which often struggle with complex or lengthy repeating DNA sequences. By focusing on these specific genetic patterns, the test aims to improve diagnostic accuracy for healthcare providers, thereby enhancing patient care.
The new service functions as a confirmatory tool following initial screening results obtained through polymerase chain reaction (PCR) testing. Developed and validated at Athena's advanced laboratory in Marlborough, Massachusetts, the test has already demonstrated its efficacy in a preprint study, which highlighted its ability to detect a repeating gene pattern associated with Spinocerebellar ataxia type 10. This particular genetic identification may correlate with the age of disease onset, a critical factor for clinicians in guiding treatment and management decisions. Mark Gardner, Senior Vice President of Oncology, Genomics and R&D at Quest Diagnostics, underscores the significance of this technological advancement, stating that it improves the quality of confirmatory testing, a vital component in the diagnostic process.
Furthermore, Christian Henry, President and CEO of PacBio, expresses optimism regarding the collaboration with Athena Diagnostics, emphasizing its established reputation in the field of neurological and rare disease testing. The introduction of this new genetic test not only highlights Quest Diagnostics' commitment to innovation but also addresses a critical need for improved diagnostic tools within the ataxia community. As Athena Diagnostics continues to explore further applications of PacBio's technology, the potential expansion into carrier screening signifies a promising direction for enhancing genetic testing capabilities.
In addition to its advancements in ataxia testing, Quest Diagnostics remains focused on broadening its portfolio of diagnostic services. As the healthcare landscape evolves, the company aims to stay at the forefront of genetic testing and precision medicine, ultimately benefiting healthcare providers and patients alike. The strategic integration of advanced technologies like PureTarget sequencing showcases Quest Diagnostics' dedication to delivering precise and timely diagnostic solutions in the rapidly evolving field of genetics.
