# Personalized diagnostics

Molecular diagnostics leveraging NGS, liquid biopsy, and AI for precision medicine and targeted therapies.

Source: https://en.bioecon.ru/technology/personalized-diagnostics/
Updated: 2026-08-18



## Overview 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

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

### Value chain levels

| Level | Description | Key inputs/outputs |
|:---|:---|:---|
| **Sample Collection** | Collection of blood, tissue, or saliva utilizing stabilized collection tubes | **In:** Patient biofluid.<br>**Out:** Stabilized sample. |
| **Extraction** | Automated isolation of high-quality DNA, RNA, or circulating tumor DNA | **In:** Stabilized sample.<br>**Out:** Purified nucleic acids. |
| **Library Prep** | Fragmentation, adapter ligation, and target enrichment for specific genomic regions | **In:** Nucleic acids.<br>**Out:** Sequencing libraries. |
| **Sequencing** | High-throughput reading of millions of DNA fragments in parallel (NGS) | **In:** Libraries.<br>**Out:** Raw genomic data. |
| **Bioinformatics** | Alignment, variant calling, and mutation annotation using specialized software | **In:** Raw data.<br>**Out:** Variant profiles. |
| **Clinical Interpretation** | Matching genetic variants with clinical databases to guide therapy decisions | **In:** Variant profiles.<br>**Out:** Actionable medical report. |

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.

---

## US

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.

---

## CN

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.

---

## EU

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.

---

## Leading companies and research institutes

| Company / Institute | Country | Key products / platforms | Tech features | Status 2026 |
|:---|:---|:---|:---|:---|
| **Illumina** | 🇺🇸 USA | *NovaSeq, DRAGEN* | 75% of global NGS platforms | operating |
| **Guardant Health** | 🇺🇸 USA | *Guardant360* | FDA-approved liquid biopsy | operating |
| **BGI Genomics** | 🇨🇳 China | *DNBSEQ* | Lowest cost whole genome sequencing | operating |
| **Burning Rock** | 🇨🇳 China | *OncoCompass* | Liquid biopsy and cancer screening | operating |
| **Qiagen** | 🇩🇪 Germany | *QIAstat-Dx* | Companion diagnostics leader | operating |
| **Tempus** | 🇺🇸 USA | *Tempus xT* | AI-guided genomic profiling | operating |

---

## Tech 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.

---

## Value chains and production pipelines

### Industrial pipeline of targeted oncology diagnostics (ISO 15189)

```text
┌───────────────────────────┐      ┌───────────────────────────┐
│ 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.