Personalized diagnostics

01Overview and value chain#

Markers EC: In Vitro Diagnostic Medical Devices Regulation (IVDR) | OECD: 3.3 Health | Regulator: FDA (USA), EMA (EU), NMPA (China)

Personalized diagnostics represents the foundation of precision medicine, utilizing advanced genomic and molecular tools to tailor medical treatment to individual patient profiles. By shifting from a “one-size-fits-all” approach to individualized therapies, the sector focuses heavily on Next-Generation Sequencing (NGS), liquid biopsy, and companion diagnostics. Utilizing circulating tumor DNA (ctDNA) from non-invasive blood draws, these technologies enable multi-cancer early detection and minimal residual disease (MRD) monitoring, fundamentally altering oncology care. The global NGS diagnostic market, valued at $3.8 billion, exhibits a 28% year-over-year growth, driven by falling sequencing costs and expanding clinical coverage.

The key directions of personalized diagnostics are:

1. NGS Oncology Diagnostics: Comprehensive Genomic Profiling (CGP) using 300–600 gene panels to match tumors with targeted therapies.
2. Liquid Biopsy: Non-invasive monitoring of circulating tumor DNA (ctDNA) for cancer relapse and early multi-cancer detection (MCED).
3. Companion Diagnostics (CDx): Specific tests required to determine patient eligibility for corresponding targeted therapeutic drugs.
4. CRISPR Diagnostics: Fast, point-of-care diagnostic chips identifying viral pathogens and antimicrobial resistance within 30 minutes.

Sectoral value chain#

[Sample Collection] ──> [Nucleic Acid Extraction] ──> [Library Preparation] ──> [Sequencing / Detection]
                                                          │
                                                (Target Enrichment)
                                                          │
                                                          ▼
[Targeted Therapy Selection] <─── [Clinical Reporting] <─── [AI Bioinformatics Analysis]

Value chain levels#

Cross-cutting technologies of the sector:

• Next-Generation Sequencing (NGS): Massively parallel sequencing technology driving genomics with exponential cost reductions.
• Liquid Biopsy: Detection of cell-free DNA (cfDNA) and exosomes in blood to profile tumors without invasive surgery.
• Artificial Intelligence in Diagnostics: Multimodal models combining genomic, imaging (radiogenomics), and clinical data for predictive oncology.

02US#

The United States leads the global personalized diagnostics market with the highest number of FDA-approved liquid biopsies and companion diagnostics.

FDA breakthrough devices, Illumina dominance, liquid biopsy pioneers#

• Sequencing Dominance: American companies like Illumina produce over 75% of global NGS platforms, setting the gold standard.
• FDA Approvals: Guardant Health secured the first FDA-approved liquid biopsy for non-small cell lung cancer (NSCLC) profiling.
• Multi-Cancer Early Detection: Companies like Grail launched the Galleri test utilizing cfDNA methylation to screen for over 50 cancer types from a single blood draw.

03CN#

China relies on massive state-backed biobanks and localized sequencing giants to become a strategic center for precision medicine.

Mass sequencing scale, BGI genome cost, NMPA approvals#

• Lowest Sequencing Costs: BGI Genomics offers the world’s most affordable whole genome sequencing (WGS), driving mass adoption in developing nations.
• Liquid Biopsy Commercialization: Burning Rock leads oncology NGS in China, submitting liquid biopsy panels for early colorectal cancer screening to the NMPA.
• Data Sovereignty: Strict genomic data security laws require local analysis, prohibiting the export of Chinese genomic data and fostering a self-sufficient domestic ecosystem.

04EU#

The European Union focuses on rigorous clinical validation (IVDR) and continental data sharing initiatives.

IVDR compliance, European Health Data Space, companion diagnostics#

• Strict Regulation: The IVDR shift demands extensive clinical evidence for diagnostic tests, causing a transition from in-house lab tests to validated commercial platforms.
• European Health Data Space (EHDS): An initiative uniting electronic health records and genetic data across 27 EU nations to fuel biomarker discovery while respecting GDPR.
• Companion Diagnostics Integration: European pharma giants require validated CDx platforms, supplied by companies like Qiagen, to prescribe targeted treatments safely.

05Leading companies and research institutes#

06Tech stack and innovations#

The personalized diagnostics stack combines advanced biochemistry with high-performance computing.

1. Next-Generation Sequencing Platforms:
   • Massive parallel sequencing arrays reading millions of short DNA fragments simultaneously.
   • Reduced the cost of sequencing a whole human genome from millions to under $200.
2. Liquid Biopsy and Fragmentomics:
   • Detection of circulating tumor DNA (ctDNA) shed by apoptotic tumor cells into the bloodstream.
   • Relies on ultra-deep sequencing and methylation profiling to detect minimal residual disease (MRD).
3. CRISPR Point-of-Care Diagnostics:
   • Leveraging Cas12 and Cas13 enzymes (e.g., SHERLOCK and DETECTR) for rapid nucleic acid detection.
   • Provides 30-minute diagnostic turnarounds for infectious diseases on low-cost paper or microfluidic chips.

07Value chains and production pipelines#

Industrial pipeline of targeted oncology diagnostics (ISO 15189)#

┌───────────────────────────┐      ┌───────────────────────────┐
│ 1. Liquid Biopsy Draw     │ ───> │ 2. cfDNA Extraction       │
└───────────────────────────┘      └───────────────────────────┘
                                                 │
                                                 ▼
┌───────────────────────────┐      ┌───────────────────────────┐
│ 4. Massively Parallel Seq │ <─── │ 3. Targeted Library Prep  │
└───────────────────────────┘      └───────────────────────────┘
              │
              ▼
┌───────────────────────────┐      ┌───────────────────────────┐
│ 5. Variant Calling (AI)   │ ───> │ 6. CDx Report Generation  │
└───────────────────────────┘      └───────────────────────────┘

Stage 1: Liquid Biopsy Draw

A standard peripheral blood sample is collected into specialized tubes containing preservatives that prevent white blood cell lysis, ensuring the circulating cell-free DNA (cfDNA) remains uncontaminated.

Stage 2: cfDNA Extraction

In a certified laboratory, plasma is separated via centrifugation. Automated robotic liquid handling systems isolate and purify the extremely sparse and fragmented cfDNA using magnetic bead technology.

Stage 3: Targeted Library Prep

The purified cfDNA undergoes end repair, A-tailing, and adapter ligation. Hybridization capture probes enrich specific oncology-relevant genes (e.g., 300 to 500 gene panels) to focus sequencing power on target regions.

Stage 4: Massively Parallel Seq

The prepared libraries are loaded onto high-throughput NGS flow cells. The sequencer performs thousands of cycles, generating millions of short reads with ultra-deep coverage required to detect rare mutations (allele fractions below 0.1%).

Stage 5: Variant Calling (AI)

Bioinformatics pipelines process the raw sequencing reads. AI-assisted algorithms align the sequences to a reference genome, correct sequencing errors, and identify single nucleotide variants (SNVs), indels, and fusions.

Stage 6: CDx Report Generation

The detected variants are cross-referenced with curated clinical and pharmacological databases. A final report is generated identifying actionable mutations and recommending specific targeted therapies or clinical trials.