Key Ways NGS is Changing the Diagnostics Industry
- Enabling Precision Medicine
NGS allows for comprehensive genomic profiling, identifying mutations and
biomarkers that guide personalized treatment. Unlike traditional single-gene
testing, NGS can analyze multiple genes simultaneously, offering a holistic
view of a patient’s genetic makeup. For example, Foundation Medicine’s
FoundationOne CDx uses NGS to profile over 300 genes, helping
oncologists select targeted therapies for cancer patients. This test has been
pivotal in identifying actionable mutations in lung, breast, and colorectal
cancers, improving patient outcomes by matching therapies to specific
genetic alterations.
- Enhancing Infectious Disease Detection
NGS has transformed infectious disease diagnostics by enabling rapid
identification of pathogens, including viruses, bacteria, and fungi, even in
complex samples. During the COVID-19 pandemic, Illumina’s NGS
platforms were used to sequence SARS-CoV-2 genomes, tracking variants
like Delta and Omicron. This capability supported the development of
targeted diagnostics and vaccines. Similarly, Oxford Nanopore
Technologies’ MinION device enables real-time sequencing in field
settings, such as during Ebola outbreaks in Africa, allowing rapid
identification of pathogens in resource-limited environments.
- Advancing Non-Invasive Prenatal Testing (NIPT)
NGS has revolutionized prenatal diagnostics by enabling non-invasive
screening for fetal abnormalities. Natera’s Panorama test uses NGS to
analyze cell-free fetal DNA in maternal blood, detecting conditions like Down
syndrome with over 99% accuracy. This approach reduces the need for
invasive procedures like amniocentesis, improving safety and accessibility for
expectant mothers.
- Supporting Rare Disease Diagnosis
NGS is critical for diagnosing rare genetic disorders, where traditional
diagnostics often fail due to the complexity and rarity of mutations. Invitae’s
exome sequencing panels analyze thousands of genes to identify rare
disease-causing variants, reducing diagnostic odysseys for patients. For
instance, Invitae’s testing has helped diagnose conditions like spinal muscular
atrophy in children, enabling early intervention and improved outcomes.
- Driving Population-Scale Genomic Studies
NGS facilitates large-scale genomic research, informing public health
strategies and diagnostics. The UK Biobank, in collaboration with
companies like Illumina, has sequenced the genomes of over 500,000
individuals, creating a massive dataset for studying disease risk and
developing diagnostic tools. This initiative has identified genetic
predispositions to diseases like cardiovascular disorders, enabling proactive
screening programs.