Molecular diagnostics is entering a phase in which different technologies play increasingly distinct and complementary roles. PCR is now a mature, robust technology embedded in the routine work of many laboratories. NGS has made the generation of large volumes of genomic data progressively more accessible. Yet the complete journey from sample to interpretable result still requires specialist expertise, bioinformatics, quality and governance.

‘From genomic complexity to diagnostic value’ starts from this transition and examines it through a simple principle: the diagnostic question comes before the platform. Known targets, routine testing and focused measurements call for different tools from those needed for many genes, high biological heterogeneity, custom panels or broader genomic characterisation. In some workflows, PCR and NGS can also serve different stages of the same pathway.

The first part of the White Paper traces the development of molecular biology along two paths. PCR turned the amplification of specific sequences into a repeatable, standardisable laboratory capability that has become progressively integrated into diagnostic processes. Its operational value today also stems from the infrastructure built around it: protocols, reagents, controls, instruments, expertise and quality systems.

NGS is at a different stage of the same evolution. Lower data-generation costs have broadened access to sequencing without removing the complexity of downstream work. Sample quality, library preparation, run quality control, bioinformatics pipelines, annotation, interpretation, reporting and data governance remain integral to the result.

This leads to the principle of appropriateness that runs through the document. When a laboratory needs to examine a few known targets, obtain focused answers, work in a routine setting or monitor selected markers, PCR remains a natural choice. When the question involves many genes or variants, extended panels, biological heterogeneity or a broader reading of genomic complexity, NGS becomes more suitable. The choice depends on the question, the setting and the output required.

Helyx organises this approach through three distinct scopes. Hyris brings PCR into distributed, multi-site models through Hyris System™. Vytro develops clinical PCR, deep multiplexing and laboratory applications for defined targets. Mytho represents the Group’s custom NGS capabilities, including tailored panels, advanced customisation, bioinformatics and specialist workflows. The relationship between the Divisions makes a shared evolution understandable without conflating technologies, markets or responsibilities.

The White Paper’s second central theme is where NGS creates value. Sequencing produces data; a useful result depends on how well the question is translated into panel design, coverage, controls, pipelines, annotation, classification, reporting and expert review. Each step involves technical decisions that affect reproducibility, traceability and interpretability.

In this architecture, bioinformatics is an integral part of the workflow. Reads must be checked and transformed into interpretable signals; databases and software versions must be governed; filtering and annotation must remain consistent with the intended context of use. Automation and artificial intelligence can support certain steps, from prioritisation to organising evidence, within validated processes and under defined responsibilities.

Mytho occupies this space as Helyx’s custom NGS capability. Its model focuses on projects in which the panel, pipeline and output are built around the question posed by a laboratory, geneticist or partner, with attention to data quality and the ability to document the workflow. Genomic depth becomes valuable when it produces information that can be governed.

A central part of the White Paper addresses the complementary roles of PCR and NGS. Appropriateness is considered along three dimensions: the clinical or operational question, the type of output required and the test’s position in the workflow. Rapid confirmation, a panel of predefined targets, a multi-gene profile and extensive characterisation call for different configurations.

In integrated workflows, a targeted molecular test may provide the first level of analysis and sequencing may follow for deeper investigation. In other cases, the pathway starts directly with NGS because the question is already broad. The document uses examples from infectious disease diagnostics, genetics, oncology and microbiota to show how detection, further investigation, characterisation and follow-up can be distributed across different technologies without confusing their functions.

The public Genoma-Puglia case brings this approach into a complex institutional programme. In collaboration with Revvity Italia, Helyx develops, produces and supplies customised NGS screening kits according to the project’s requirements. The White Paper uses this case to show that neonatal genomic screening is a governed programme: selection of conditions, sample quality, bioinformatics pipelines, consent, reporting, diagnostic confirmation and patient care are parts of the same system.

Microbiota provides a second example, centred on the integration of methods. NGS and metagenomics enable broad profiling of a microbial community; when selected signals or targets emerge, a validated PCR assay can add a more focused measurement. The sample, method, databases, pipeline and intended use remain decisive. The value lies in connecting broad profiling with targeted measurement without turning an analytical signal into a conclusion stronger than the available evidence.

The concluding part of the White Paper places NGS in a phase of industrial maturation. Data generation is more accessible, adoption is growing in selected settings, and public genomic programmes are making the requirements for networks, quality and governance increasingly visible. The complexity of the complete pathway remains substantial, shifting the emphasis towards bioinformatics, versioned processes, documentation, expert review and integration capabilities.

For Helyx, this phase means building capabilities and application cases before full standardisation. Mytho develops genomic depth and custom capabilities; Vytro maintains its focus on clinical PCR and defined targets; Hyris adds the distributed PCR dimension. The ecosystem enables technology to be chosen according to the question and combined when a workflow requires different levels of information.

Chapter 1 — From PCR to NGS. Technological maturation, conditions for adoption, access to sequencing and the journey from sequence to meaning.

Chapter 2 — The Helyx ecosystem. The roles of Hyris, Vytro and Mytho, and the integrated diagnostic approach with distinct scopes.

Chapter 3 — Mytho and the value of NGS. Custom panels, data quality, bioinformatics pipelines, variant interpretation, automation and governance.

Chapter 4 — Diagnostic appropriateness. PCR, deep multiplexing and NGS considered in light of the question and their position in the workflow.

Chapter 5 — Genoma-Puglia. Neonatal genomic screening, industrial collaboration, governance and the requirements of an institutional programme.

Chapter 6 — Microbiota. Broad profiling with NGS, targeted measurement with PCR, interpretative limits and intended use.

Chapter 7 — The strategic value of NGS. Maturation, bioinformatics, progressive standardisation, and the development of capabilities and credibility.

Appendices. Q&A, an essential glossary and an annotated bibliography for quick reference and further study.