Pedigree software for UK clinicians: UKCGG, AGNC and NICE-aligned options

Short version. UK clinical genetics practice sits within a specific professional ecosystem: UKCGG (UK Cancer Genetics Group), AGNC (Association of Genetic Nurses and Counsellors), the Royal College of Pathologists, NICE guidance, and the Cambridge-led CanRisk team — plus the NHS Genomic Medicine Service's operational structure. For pedigree software, UK clinicians typically combine a pedigree management product (Phenotips at Addenbrooke's, TrakGene across several NHS trusts, FamGenix, Progeny, or similar) with CanRisk for breast and ovarian cancer risk calculation. Evagene is a UK-based option currently in free Alpha with UK English, ICD-10, NSGC 2022 notation, and GEDCOM interoperability — but without the procurement certifications NHS institutional purchase requires. This page maps the landscape.

The UK clinical genetics ecosystem

UK clinical genetics practice is supported by several professional bodies and initiatives that shape expectations for tooling.

UKCGG (UK Cancer Genetics Group). The UK professional association for clinicians working in cancer genetics — clinical geneticists, genetic counsellors, oncologists, surgeons, and scientists. UKCGG publishes clinical guidance on cancer risk assessment, genetic testing, and management. Its endorsements matter: UKCGG's backing of CanRisk for breast and ovarian cancer risk assessment is part of why CanRisk has become the de facto tool for that calculation across UK cancer genetics services.

AGNC (Association of Genetic Nurses and Counsellors). The professional body for genetic counsellors and genetic nurses in the UK and Ireland. AGNC sets standards for practice and contributes to CPD for the profession. UK genetic counsellors register through the Genomics Counsellor Registration Board of the Academy of Healthcare Science. AGNC's standards influence what UK genetic counsellors expect of clinical tooling — particularly around documentation, patient autonomy, and record-keeping.

British Society for Genetic Medicine (BSGM). An umbrella body for UK professional societies in genetic medicine, including the Clinical Genetics Society and AGNC. BSGM supports UK-wide policy and professional coordination.

Royal College of Pathologists. The professional body for pathologists including genomic/molecular pathology. Relevant to pedigree software indirectly, through standards for how genetic test results are reported and how family-history-derived risk assessments flow back into the clinical record.

NICE (National Institute for Health and Care Excellence). UK NICE guidance shapes clinical practice across many domains including cancer risk assessment. The NICE guideline on familial breast cancer (CG164, updated periodically) defines when family-history-based risk assessment is indicated and what testing thresholds apply. NICE's recognition of CanRisk in this context carries practical weight.

Genomics England and the Generation Study. Genomics England (the public company) delivers whole-genome sequencing services to the NHS and runs research programmes including, in its current phase, the Generation Study in newborn sequencing. Its existence shapes the policy and research environment around clinical genetics, though it is not directly a pedigree software purchaser.

CanRisk and the Cambridge connection

CanRisk is a web-based cancer risk prediction tool developed at the University of Cambridge's Centre for Cancer Genetic Epidemiology (CCGE), led historically by Antonis Antoniou and colleagues. It implements BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) for breast and ovarian cancer risk, plus related risk models.

CanRisk's position in UK practice is distinctive:

• Cambridge origin gives it academic credibility and a direct research pipeline from the BOADICEA model to the clinical tool.
• NICE recognition in breast cancer risk-assessment guidance supports its use as part of NHS clinical pathways.
• UKCGG endorsement underpins professional community adoption.
• Free for clinical use — CanRisk is offered free to clinicians, removing procurement friction.

CanRisk is a risk calculator, not a full pedigree management platform. It accepts pedigree input (structured, or via its own form-based interface) and produces a risk report. Many UK services use CanRisk for the calculation step alongside a separate pedigree management product (Phenotips, TrakGene, Progeny, FamGenix, or Evagene) that handles the ongoing family-record workflow.

Tools with documented UK adoption

UK English, UK date format, UK terminology

UK clinical documentation follows UK English throughout — organisation not organization, analyse not analyze, paediatric not pediatric, haematology not hematology, oesophagus not esophagus, foetal not fetal in historical usage (though fetal is acceptable in modern clinical English). Date format is DD Month YYYY (17 April 2026) or DD/MM/YYYY in forms. Clinical terminology uses UK conventions (consultant, registrar, specialty, GP).

For pedigree software, this matters more than it may seem. A product with US English in the UI, US date format in exports, and US clinical terminology in reports produces clinical documentation that reads as foreign to UK clinicians and patients. Some products offer locale-switching; some do not. UK-based products start UK English by default.

UK data residency and UK GDPR

UK clinical data is subject to UK GDPR (the UK's post-Brexit implementation of GDPR, largely aligned with EU GDPR). For NHS and many UK healthcare procurement frameworks, the expectation is:

• UK data residency. Patient-identifiable clinical data stored in the UK, in UK-based cloud regions or data centres.
• EEA data residency with safeguards is sometimes acceptable, depending on the data classification and the framework.
• UK GDPR compliance including lawful basis, data subject rights, data minimisation, appropriate safeguards, and incident response.
• Data Processing Agreement (DPA) between the software vendor and the NHS / healthcare customer defining processor obligations.
• Subject Access Request (SAR) support — the vendor must be able to support the customer in producing data for patient subject access requests.

Software vendors operating globally typically offer a UK region (or UK/EU region) for UK customers. Smaller or newer vendors may not have regional hosting; for UK healthcare procurement, regional hosting is usually a procurement requirement rather than a nice-to-have.

GDPR, family data, and the right to know

Pedigree data is distinctive under UK GDPR because it describes multiple individuals, most of whom are not the subject of the consultation. The ethical and legal position in UK clinical practice is:

• Consent from the proband. The proband consents to family-history documentation as part of the consultation.
• No separate consent from relatives. UK practice (consistent with the GMC and professional society guidance) does not require individual consent from relatives for inclusion of their family history in a pedigree, though relatives who come forward themselves become data subjects in their own right.
• Professional confidentiality and disclosure rules. The Caldicott principles, the GMC's confidentiality guidance, and the AGNC's standards govern how information is shared within and outside the clinical team.
• Family relevance and the duty to inform. Where a genetic finding in one family member has implications for relatives, guidance in UK genetics practice supports sharing in appropriate ways — the Royal College of Physicians and the GMC have addressed this.

Software choices should support these principles: clear audit trails for who accessed what, export controls that produce identifiable output only where authorised, and appropriate support for proband-level redaction and selective disclosure where needed.

Where Evagene sits for UK clinicians

Evagene is a UK-based product developed with UK clinical genetics practice in mind. The UK-facing features are:

• UK English throughout. Product UI, documentation, reports, and exports all use UK English spelling and terminology.
• UK date format. 17 April 2026 / 17/04/2026 by default.
• ICD-10 coding (NHS-native) plus OMIM for genetic conditions, across the 200+ disease catalogue.
• NSGC 2022 pedigree notation enforced automatically.
• BRCAPRO, MMRpro, PancPRO cancer risk models (BayesMendel family). CanRisk / BOADICEA is not currently implemented in Evagene; for BOADICEA-specific risk assessment, CanRisk remains the UK tool of choice.
• GEDCOM 5.5.1 import/export for cross-system and cross-institution pedigree transfer.
• BYOK LLM AI interpretation routing through your own LLM provider contract — supporting UK clinical AI governance expectations.
• REST API, webhooks, MCP server, embeddable viewer for UK research and innovation teams building custom workflows.

What Evagene does not currently offer for UK institutional procurement:

• No NHS DSP Toolkit assurance. Covered in more depth on our NHS-facing page.
• No Cyber Essentials Plus certification.
• No DTAC completion yet.
• No MHRA medical device registration.
• No native BOADICEA / CanRisk integration at this time — services that need BOADICEA use CanRisk directly.

For UK clinicians and allied professionals whose work is in training, research, private-sector genetics, international collaboration, or prototype development — and for those evaluating Evagene for future procurement — the free Alpha provides a practical way to test the product today. For NHS institutional procurement that requires current DSPT or CE+, an established certified vendor is the right choice.

How Evagene supports this

Evagene's design decisions reflect its UK base: UK English as the default (not a locale option), UK date format, ICD-10 as the primary coding system, NSGC 2022 notation enforcement, and documentation style that matches UK clinical correspondence. The BYOK LLM model for AI interpretation keeps LLM traffic on your organisation's own LLM-provider contract, which aligns with UK clinical AI governance expectations that the clinical software vendor not be a processor of clinical text.

For UK services that use CanRisk for BOADICEA risk calculation and want a pedigree management product that handles everything around that workflow — record-keeping, family annotation, cross-institution transfer via GEDCOM, AI interpretation, API-driven research pipelines — Evagene is a complementary rather than a competing tool. Pedigrees constructed or imported in Evagene can be exported as structured data or as PDF/PNG/SVG for CanRisk-adjacent use.

For UK cancer genetics services, reproductive genetics, rare disease diagnostics, and private-sector genetics, Evagene's integrated BayesMendel models (BRCAPRO, MMRpro, PancPRO), Mendelian inheritance analysis, and batch risk screening cover the risk-assessment workflow where CanRisk / BOADICEA is not required. For services where BOADICEA specifically is needed, combine Evagene for pedigree management with CanRisk for the risk calculation.

Frequently asked questions

Related reading

• Pedigree software for the NHS
• Phenotips vs Evagene
• TrakGene vs Evagene
• FamGenix vs Evagene
• Hereditary cancer risk assessment
• Clinical genetics pedigree tools