Pedigree software for the NHS: context, procurement and options

A guide for NHS genetics and primary-care teams evaluating pedigree software: the NHS Genomic Medicine Service landscape, what NHS procurement typically requires, which products hold which certifications today, and an honest account of where Evagene sits.

| 14 min read

Short version. NHS clinical genetics services commission pedigree software within the structure of the NHS Genomic Medicine Service, which operates through seven Genomic Medicine Service Alliances (GMSAs) and seven Genomic Laboratory Hubs (GLHs). Procurement typically requires Data Security and Protection Toolkit (DSPT) completion, Cyber Essentials Plus (CE+), and vendor-specific assurance appropriate to the risk classification of the software. Phenotips, TrakGene, CanRisk, Progeny, and FamGenix are among the products with NHS adoption. Evagene is currently in free Alpha and does not hold DSPT or CE+ at the time of writing — we are transparent about that. The page below explains the context, and for each vendor summarises what is publicly advertised regarding NHS-facing certifications and features.

The NHS Genomic Medicine Service in brief

The NHS Genomic Medicine Service (GMS) is the whole-system NHS service delivering genomic medicine across England, commissioned by NHS England. Its clinical delivery happens through:

  • Seven Genomic Medicine Service Alliances (GMSAs), each covering a large geographic region of England and aligning local trusts, primary care, and specialised commissioning into a single genomic-medicine delivery network.
  • Seven Genomic Laboratory Hubs (GLHs), delivering diagnostic genomic testing for the Genomic Test Directory.
  • NHS Clinical Genetics services at tertiary centres across England, embedded within NHS trusts, providing clinical geneticist and genetic counsellor expertise.
  • Scotland, Wales, and Northern Ireland have their own genomic medicine services with related but distinct structures.

Pedigree software is used across this structure — by genetic counsellors documenting family histories, by clinical geneticists reviewing cases, by cancer genetics services running risk models, by rare disease diagnostic teams, and in some primary care and secondary care settings for family-history triage ahead of referral.

The NHS HEE Genomics Education Programme (now part of NHS England's workforce genomics activity) provides training resources for NHS staff in genomics, including a well-known family-history template tool (historically distributed as a plastic card) that primary care teams use for simple family-history capture ahead of genetics referral.

What NHS procurement typically requires

NHS procurement of clinical software is governed by a set of overlapping requirements that reflect the data sensitivity and operational criticality of the system. For pedigree software, the usual list includes:

Requirement What it covers Typical requirement level
DSP Toolkit (DSPT)Annual NHS self-assessment on data security, data protection, and incident managementUsually mandatory
Cyber Essentials / CE+UK government-backed cybersecurity scheme; CE self-assessed, CE+ auditedCE usually required; CE+ common for IT suppliers
DTAC (Digital Technology Assessment Criteria)NHS assessment covering clinical safety, data protection, technical assurance, interoperability, usabilityExpected for digital health products
DCB 0129 / DCB 0160Clinical risk management for health IT systems (manufacturer and deployer standards)Mandatory for health IT in England
UKCA / MHRA registrationMedical device regulation where the software meets the definitionDepends on classification; some risk models may meet the definition
ISO 27001International information security management certificationCommon expectation for enterprise suppliers
UK data residencyClinical data stored in UK or EEA; GDPR / UK GDPR complianceUsually required or strongly preferred

Not every NHS procurement route requires every item on the list — the specifics depend on the trust, the procurement framework, and the data classification. But for anything handling identifiable patient data, DSPT and CE+ are effectively the floor. Many software vendors selling into the NHS also hold ISO 27001 and complete DTAC submissions.

Software options with NHS adoption

Phenotips. A genomic health record platform with pedigree, HPO phenotype capture, and disease annotation. Phenotips publishes information about its assurance posture on its site; its public customer list and case studies include UK institutions, notably Addenbrooke's (Cambridge University Hospitals NHS Foundation Trust). Phenotips has historically held assurance suited to NHS / enterprise institutional deployment. See our Phenotips vs Evagene comparison for product-level detail.

TrakGene. A clinical pedigree product with documented NHS customers on its website. TrakGene's marketing specifically highlights NHS adoption and procurement compatibility. See our TrakGene vs Evagene comparison.

CanRisk. Developed by the University of Cambridge (Centre for Cancer Genetic Epidemiology), CanRisk implements the BOADICEA breast and ovarian cancer risk model, PancPRO-style pancreatic cancer risk, and family-based risk assessment. CanRisk is endorsed by the UK Cancer Genetics Group (UKCGG) and by NICE in the context of breast cancer risk assessment (NICE guidance references CanRisk-based workflows). Widely used across UK cancer genetics services. It is specifically a risk-calculator and family-history tool, not a full pedigree management platform.

Progeny. A long-standing clinical pedigree and cancer genetics product. Progeny has UK institutional customers though its customer list is not as NHS-specifically marketed as TrakGene's. See our Progeny vs Evagene comparison.

FamGenix. A clinical pedigree product with UK and European customers, including UK-EU data-region options.

Paper, EHR-embedded, and generic drawing tools. Many NHS services, particularly primary care and some secondary-care referrers, still use paper forms, EHR-native family-history modules, or generic drawing tools for simple cases. The NHS HEE family-history template tool (the plastic card that many GPs still have in a drawer) is a longstanding example at the primary-care end.

Where Evagene sits today — an honest statement

Evagene is currently in Alpha, accessible via a free waiting list. Our public position is transparent:

  • Evagene does not hold NHS DSP Toolkit completion at the time of writing (April 2026).
  • Evagene does not hold Cyber Essentials Plus at the time of writing.
  • Evagene has not completed a DTAC submission.
  • Evagene is not MHRA-registered as a medical device.
  • Evagene is not procurement-certified for NHS institutional deployment.

For an NHS procurement today that requires any of the above as a prerequisite, Evagene is not the right answer — Phenotips, TrakGene, or one of the established vendors is. We will not claim certifications we do not hold.

What Evagene does offer NHS-facing teams today

Although Evagene is not procurement-certified, the product has several features that align with NHS clinical documentation and integration expectations:

  • UK English throughout. Spelling, date format, clinical terminology (paediatric, oncological, obstetric). No Americanisms in the product UI or documentation.
  • ICD-10 as the primary disease coding system. Evagene's 200+ disease catalogue uses ICD-10 (the coding system the NHS uses for primary and secondary care activity) plus OMIM for genetic conditions. This differs from HPO-first products; ICD-10 is closer to the native NHS coding vocabulary for most non-rare-disease use cases.
  • 23andMe interoperability. Many UK patients arrive at a genetics consultation with consumer genomics data (23andMe, AncestryDNA). Evagene imports 23andMe SNP arrays, traits, and health-history files — useful in reproductive and cancer genetics consultations where patient-brought data informs the conversation.
  • Browser-based, zero-install. Compatible with NHS-provided workstations without desktop software deployment, which is often a significant lift through Trust IT. For small services or research teams building prototype workflows, this lowers the friction of first use.
  • NSGC 2022 pedigree notation. Matches the documentation expectations of UK clinical genetics services.
  • GEDCOM import/export. Supports cross-institution and cross-system transfer of pedigrees using the de facto standard format.
  • BYOK LLM AI interpretation. AI traffic routes through your organisation's own LLM provider account under your existing contract — important for clinical AI governance. See our AI overview for more.
  • REST API, webhooks, MCP server. Programmatic access for teams building their own integrations, research pipelines, or agent-based workflows.

For individual NHS clinicians and genetic counsellors exploring tools during training, for research teams prototyping genetic workflows without full procurement, for non-NHS UK services (private genetics, reproductive clinics, some academic research), and for teams evaluating Evagene for future procurement as certifications are added, free Alpha access provides a practical way to test the product. For current NHS institutional procurement that requires DSPT or CE+, Evagene is not a candidate yet.

Roadmap notes

Evagene's stated roadmap direction is towards the certifications NHS procurement requires — DSPT, Cyber Essentials Plus, DTAC, and where appropriate ISO 27001. Timelines are not committed publicly; organisations evaluating Evagene for future procurement should ask directly for current status. We will update this page when certification status changes.

How Evagene supports this

Within our honest Alpha scope, Evagene is suitable for NHS clinicians and allied teams who want to test a modern, browser-based pedigree platform with integrated BayesMendel risk models, AI interpretation with BYOK LLMs, and a full API / MCP / embed surface. The product uses UK English, ICD-10, and UK clinical documentation style; it enforces NSGC 2022 notation; it imports and exports in the standard interoperable formats.

Pedigrees drawn in Evagene can be exported as PDF for inclusion in a clinical letter, as SVG or PNG for embedding in a clinical report, or as GEDCOM for transfer to an NHS-compatible pedigree system. For services that want to use Evagene alongside an existing procurement-certified tool — for example, building a prototype AI workflow while Phenotips or TrakGene remains the system of record — the API and import/export tooling supports that hybrid pattern.

For procurement decisions today that require DSPT or CE+, the right choice is one of the established vendors with current certifications; we do not pretend otherwise. For clinicians and services exploring the category, training, teaching, or research workflows, and UK-based services outside NHS institutional procurement, Evagene's free Alpha is available at evagene.com.

Frequently asked questions

Is Evagene NHS approved?

No. Evagene is in Alpha and does not hold DSPT or Cyber Essentials Plus at the time of writing. Phenotips and TrakGene are among the vendors with NHS procurement-compatible assurance today.

What is the NHS Genomic Medicine Service?

The whole-system NHS service delivering genomic medicine across England, via seven GMSAs and seven GLHs. Scotland, Wales, and Northern Ireland have their own services.

What is the NHS DSP Toolkit?

Annual self-assessment covering data security, data protection, and incident management for organisations accessing NHS data or systems.

What is Cyber Essentials Plus?

UK government-backed cybersecurity certification; CE+ is independently audited. Common NHS procurement baseline for IT suppliers.

Which pedigree software is used in the NHS today?

Phenotips (Addenbrooke's case study), TrakGene (NHS customers documented), CanRisk (Cambridge, endorsed by NICE and UKCGG), Progeny, FamGenix, plus paper, EHR modules, and HEE tools in primary care.

Does Evagene support ICD-10?

Yes — 200+ disease catalogue coded in ICD-10 plus OMIM for genetic conditions.

Is Evagene UK English?

Yes throughout — spelling, date format, clinical terminology, documentation style.

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