Evagene for general practitioners

Primary care is where hereditary conditions most often get their first hearing. A patient mentions in passing that her mother and aunt both had breast cancer before fifty; a young man asks about bowel screening because his father had colorectal cancer at 42; a couple requests advice because both sides of the family carry the same recessive condition. You have somewhere between eight and twelve minutes per consultation, three to five patients per hour, and a day full of other questions competing for your attention. Yet this is the moment when the hereditary story either gets flagged for genetics or slips past.

Evagene is a pedigree tool designed for that moment. It is browser-based, with no installation or IT project, and the quick-draw interface is fast enough to build a three-generation pedigree inside a routine consultation. Batch risk screening tells you when a family crosses a referral-worthy threshold. And the exported pedigree and risk report give the receiving clinical genetics service a structured starting point rather than a free-text "strong family history of breast cancer."

The GP workflow

The typical triggers are familiar. A patient attends for something unrelated and asks about screening; a relative has been diagnosed with a heritable condition and the patient wants to know what it means for them; a routine health check surfaces a family history that feels worth a second look. The classic prompts — the Health Education England family history card, the QCancer / QRISK suites, the NICE CG164 flowchart for familial breast cancer, the NICE NG12 referral guidelines for suspected cancer — all ask you to structure what you know about the family and decide whether referral is warranted.

The card-and-paper approach has limitations. Physical templates stay in the physical notes; they do not persist across consultations, do not run risk models, and are not readable by a receiving clinical genetics service in any structured way. Free-text family history in the electronic record is searchable but not computable. The GP is asked to cross-reference local referral criteria against an unstructured story, in a couple of minutes.

A digital pedigree tool would ideally do three things: capture the family structure quickly; flag whether the pattern crosses local or published referral thresholds; and produce an export that the receiving service can use without asking the patient to retell the family story from scratch. That is what Evagene provides.

What GPs need from pedigree software

• Speed — draws a three-generation pedigree in minutes, not tens of minutes.
• No installation — runs in the browser on the practice desktop, no local configuration.
• Standards-compliant output — NSGC/ISCN pedigrees that any genetics service will read without explanation.
• Published risk models — not a proprietary score but BRCAPRO, MMRpro, PancPRO and Mendelian inheritance analysis.
• Threshold flagging — tells you when the family pattern crosses a configurable threshold so you can check it against local criteria.
• Exportable for referral — PDF pedigree and report attached to the genetics referral letter.
• Persistent across consultations — because family history often builds over multiple visits.
• Appropriate for live use — drawable while talking to the patient without breaking the clinical conversation.

How Evagene supports GPs

Quick-draw interface for the consultation

Gesture drawing and keyboard shortcuts make pedigree construction quick enough for routine primary care. Add the patient as proband; add parents, siblings, and children with a few keystrokes; annotate affected relatives with diagnoses from the 200+ disease catalogue; add ages and deaths. NSGC/ISCN symbols are applied automatically — sex determines the shape, affected status shades it, deceased status adds the diagonal line, the proband is a single-action operation. A couple of minutes of talking-and-typing produces a pedigree that would take much longer with a diagramming tool.

If your consultation is a five-minute appointment, even a single-generation "parents only" sketch is useful. If it is a dedicated family history review, you have time for three or four generations. The interface scales to the time available.

Batch risk screening and threshold flagging

One click runs BRCAPRO, MMRpro, PancPRO, and the full catalogue screen against the pedigree you have built. Results highlight conditions where the family's pattern crosses a configurable threshold — the screen is a red-flag surface, not a diagnostic authority. For a GP, the value is in knowing that this family does cross the threshold, not in producing a numerical risk estimate the patient can act on without further counselling.

Our hereditary cancer risk assessment guide explains the clinical logic behind these models; the practical point for primary care is that the software tells you whether the family warrants clinical genetics consideration rather than leaving you to cross-check referral criteria manually.

Structured referrals to clinical genetics

When a referral is warranted, export the pedigree as PDF or PNG and the risk report as PDF, and attach both to your referral letter. The receiving clinical genetics service receives a pedigree that meets clinical standards and a risk report that identifies the conditions of interest. The patient is not asked to retell their family history at the genetics appointment because it is already structured; the genetics service can use its time on counselling and testing decisions rather than intake. Our clinical geneticists page shows the receiving workflow.

Persistent pedigree across visits

Family history is often not captured in one sitting. A patient mentions her mother's cancer at one visit; a year later the patient mentions that her cousin has since been diagnosed with the same condition; another year and a new relative comes up. Evagene stores the pedigree in the patient's record and makes it available at every subsequent consultation. You build on what you have, rather than starting over each time.

A modern alternative to the family history card

Tools such as the Health Education England family history card have done valuable work in primary care, but they are physical artefacts — they live in paper notes, do not persist across consultations, do not run risk models, and are not readable by a receiving clinical genetics service in any structured way. Evagene is the digital equivalent: a pedigree that persists, computes, and exports. It is not intended to replace the clinical expertise behind the card's design — the red-flag questions and referral criteria remain the GP's clinical judgement — but to make applying that expertise faster and more repeatable.

A typical GP session in Evagene

Step 1. Open or create the pedigree. From the practice desktop, open Evagene in a browser. Create a pedigree if this is a new patient, or open the existing pedigree if there is one.

Step 2. Capture the immediate family. Add parents, siblings, and children; annotate any affected relatives with the condition, age at diagnosis, and age at death if applicable. A few keystrokes per relative.

Step 3. Extend to grandparents and aunts/uncles where relevant. For conditions where second-degree relatives matter (many hereditary cancers), add that layer. For conditions where first-degree is sufficient (carrier concerns), stop at the immediate family.

Step 4. Run batch risk screening. One click. Review the flagged conditions; compare against your local referral criteria.

Step 5. Refer or not. If referring, export the pedigree as PDF and attach it to the genetics referral. If not referring, save the pedigree in the patient's record for the next visit.

Frequently asked questions

Further reading

• Hereditary cancer risk assessment
• Evagene for clinical geneticists (your referral target)
• Evagene for oncologists
• Pedigree drawing software
• Clinical genetics pedigree tools: a field guide
• The Evagene platform