As more researchers are turning to next generation sequencing in clinical settings, they are finding utility for identifying and diagnosing rare genetic diseases.
A study from Trends in Genetics highlights various options to diagnose rare disorders caused by variations in genetics. What’s exciting is the notion that information from high-speed genetic testing, when vetted for being both accurate and reproducible by other experimenters, is that they can deliver genetic testing results that doctors can feel confident in relying on, in multiple clinical stages of these rare disorders.
It’s already clear that genetic testing of rare diseases is being impacted by next generation sequencing. But “the rapid evolution of NGS technologies has outpaced its clinical adoption,” according to the Trends in Genetics study. It suggests adopting a new triage for existing NGS systems, with a fit-for-purpose approach.
What Advances Have Been Made in Rare Genetic Disease Testing Using Next Generation Sequencing in Clinical Settings?
Researchers are awaiting faster and more reliable methods to sequence unusually rare genetic diseases. Trends in Genetics noted that there are many complex factors when it comes to fit-for-purpose next generation testing.
For example, how widespread is knowledge and awareness of a particular syndrome among researchers using NGS in their lab? And how quickly can the equipment delivery results? The cost of buying and using the equipment is another factor that can be seen as important to consider as the need to optimize each experiment’s design so that it can harness NGS most effectively.
Bioengineering advances, such as editing genomes with new technology, allow scientists to add new genetic variations to cells, so they can then create synthesized reference materials for insight into causal variants in rare diseases.
One clear benefit now is that patients don’t need to get stuck shuttling between doctors as they seek to find a determination about the nature of their rare disorder. The report explained that “Rare disease patients experience a long referral loop from one physician/specialist to another, which could lead to inappropriate management and disease progression.”
What’s called for is better strategic thinking for genetic testing, especially using next generation sequencing in aiding doctors to diagnose the most rare of disorders.
Fortunately, with the adoption of NGS systems in the clinical environment, “various applications are emerging and have proven successful in diagnosing a proportion of rare diseases in both research and clinical arenas.”
Today, patients have access to a global network of genetic testing services, which experts predict will reach a market size of $22 billion by 2024. The amount of tests available for patients with rare disorders is now 584, offered through 522 organizations, which for the most part are located in Europe. The majority of these tests are working on diagnoses of already known genes causing disorders.
Of particular noteworthiness is the news that 86% of genetic diagnosis tests are done for postnatal diagnosis for doctors treating pediatric cancer patients.
Artificial Intelligence as a Partner in NGS for Identifying Rare Diseases Caused by Mutations
One particularly intriguing aspect of next generation sequencing is the idea of using artificial intelligence and machine learning systems to improve how doctors can obtain relevant diagnostic information. According to the Trends in Genetics report, AI is seen as being an important aspect to integrate a wide range of divergent information in diagnosis.
With assistance from artificial intelligence, there is a potential to boost scientific understanding rare diseases, enabling a researcher to prioritize which variances should be investigated first as they investigate samples from patients.
Keep an Eye on NGS and its Use to Identify Rare Genetic Disorders
It’s clear that next generation sequencing will continue to play a major role worldwide with researchers using high-speed next generation sequencing to get precise information about the underlying causes of mutated gene disorders.