Evagene for genetic counsellors

Genetic counselling sits at the place where a family's story becomes clinical information. The job is simultaneously conversational, technical, and emotional. You listen carefully to a patient who may be grieving a relative or anxious about a test, translate what they say into structured family history, check that history against recognised clinical patterns, explain what the patterns mean in plain language, and write a letter that the patient will read at home three weeks later. Your software should respect all four of those activities.

Evagene is a pedigree platform built around the counselling session. It is browser-based with nothing to install, uses gesture drawing so that pedigrees can be constructed while you are talking to a patient, enforces NSGC/ISCN standard notation automatically, supports consent flags and multi-session refinement, and generates patient-friendly letters alongside clinical reports. You can bring in family history collected ahead of the visit, refine it in the consultation, and finalise documentation afterwards, all in one place.

The genetic counsellor workflow

Your week tends to be shaped by a handful of recurring session types. The new-patient visit: forty-five to sixty minutes to take a three- or four-generation family history, explain inheritance and testing, discuss implications, agree consent, and leave the patient with a written summary. The results-disclosure visit: fifteen to thirty minutes to return a variant result, explore the patient's understanding, discuss implications for relatives, and initiate cascade testing. The follow-up and psychological support visit: flexible, often triggered by a specific event — a new diagnosis, a pregnancy, a bereavement.

Behind each visit sits work the patient never sees. You review the referral letter, request records from other institutions, send pre-visit questionnaires, contact relatives where the proband has consented, prepare draft risk calculations, and pre-populate pedigrees with what you already know. After the visit you write letters — to the referrer, to the patient, sometimes to other institutions — and you update the pedigree with anything that emerged during the conversation. You schedule the follow-up, you flag the case for MDT, you request genetic testing.

In a complex family, the pedigree evolves across several sessions. A grandmother's cause of death is confirmed after a death certificate arrives. A cousin who was "not in touch" gets in touch and provides a testing result from another country. A pregnancy is declared; a miscarriage is recorded; a new first-degree relative with a late-onset condition surfaces years after the proband was first seen. The pedigree in your software has to be a living document that you can trust to reflect the current understanding of the family.

What genetic counsellors need from pedigree software

• Live drawing during consultation — an interface that keeps pace with a conversation, not one that pulls your attention away from the patient.
• Enforced standard notation — NSGC/ISCN symbols applied automatically so that every pedigree you produce is clinically correct without extra effort.
• Pre-visit data import — ability to start from a family tree the patient has assembled, a questionnaire response, a GEDCOM from a genealogy site, or a 23andMe export.
• Multi-session refinement — a persistent pedigree that evolves across visits, with a clear record of what changed and when.
• Consent and governance — individual-level consent-to-share flags, audit trails, and sensible defaults for handling information about relatives who have not been seen.
• Patient-friendly letter generation — structured output in accessible language, customisable to your service's tone.
• Risk model outputs you can explain — not just a number, but the underlying inputs and the interpretive language you will use with the patient.
• Cascade tracking — a way to track which relatives have been contacted, offered testing, consented, tested, and counselled.

How Evagene supports genetic counsellors

Gesture drawing during live consultation

The canvas is designed so that when a patient says "my mother had breast cancer at 48, her sister at 52, and their mother died of something the family thought was ovarian at about 60," you can capture all four assertions in the time it takes the patient to pause for breath. Gesture drawing adds the three generations; keyboard shortcuts add the affected shading, the diagnoses from Evagene's 200+ disease catalogue (ICD-10 and OMIM), the ages at diagnosis, and the death annotation. You never lose eye contact for long, and you never have to apologise for the interface getting in the way.

A deeper treatment of pedigree interaction design lives in our pedigree drawing software guide; the important point for counsellors is that the interface is built for consultation speed, not for demo-video clarity.

Pre-visit questionnaires and import

Many services ask patients to return a family history questionnaire before the first visit. Evagene does not force you into a particular intake form — instead, it supports multiple ways of getting pre-visit data into the system. You can import a GEDCOM from a genealogy site the patient used to build their tree; you can import a 23andMe export if the patient has one; you can OCR a hand-drawn pedigree scanned into a PDF; you can push structured responses into a pedigree via the REST API from whatever intake form your service already uses. Whichever route, the pedigree arrives in Evagene already partly built, and the consultation time goes into refinement and clinical reasoning rather than data entry from scratch.

Standard notation, enforced

Every pedigree uses NSGC/ISCN symbols, applied automatically. Sex determines the symbol shape; affected status shades it; deceased status adds the diagonal line; the proband arrow is a single action; pregnancy symbols, miscarriage triangles, adoption brackets, and consanguinity double-lines are built in. Carrier status appears as a central dot for autosomal recessive conditions. You cannot accidentally produce a non-standard pedigree; the software will not let you. That means every export you send to a colleague — in PDF, PNG, SVG, or GEDCOM — is immediately interpretable by any trained reader.

Consent flags and audit

A counsellor is often the person in the service most attuned to the delicacy of recording information about relatives who have not themselves been seen. Evagene supports consent-to-share flags at the individual level, so you can mark family members whose information should not be exported or displayed outside the clinical team. Pedigree changes are audited; you can see when a record was added, modified, or deleted, and by whom. For specific regulatory positions in your jurisdiction — GDPR, HIPAA, the NHS DSP Toolkit, Australia's Privacy Act — confirm compliance documentation directly with the vendor at procurement.

Patient-friendly letter generation

Evagene generates four report types from a single pedigree: clinical letter, patient-friendly summary, risk report, and AI interpretation. The patient-friendly letter is a first-class output, not an afterthought. Analysis Templates let you author the structure and tone your service uses with patients — the opening paragraph, the way you explain inheritance, the closing paragraph about next steps — and reuse it across cases. AI drafts arrive in that template; you review, edit, and sign off. The AI is a drafting aid, not a clinical authority.

Multi-session refinement and cascade tracking

The pedigree persists across visits. When a death certificate arrives six weeks after the new-patient visit, you open the pedigree, update the cause of death, and the affected shading follows automatically. When a predictive test result comes back for a maternal aunt, you annotate her record and the carrier dot appears. Batch risk screening runs against the updated family in a click. For cascade management, the pedigree shows who has been offered testing, who has been tested, and what the result was, at a glance.

A typical genetic counsellor session in Evagene

Before the visit. A pre-visit questionnaire response is pushed into Evagene via the REST API, or imported from GEDCOM / 23andMe / a scanned pedigree. You open the pedigree ten minutes before the patient is due and scan it for what you already know and what you need to ask.

During the visit. You share your screen (or position a second monitor) and narrate the pedigree as you update it. The patient can see the family appearing on screen; often this prompts them to remember additional relatives or details. You annotate affected status, ages, deaths, and genetic test results already in the family. You discuss inheritance, risk, and testing using the pedigree as a shared reference.

End of visit. You run BRCAPRO or MMRpro if relevant, or a batch screen across the disease catalogue for a less focused referral. For the classic "two affected children of unaffected parents" counselling case, Evagene's germline mosaicism posterior combines pedigree structure with optional blood or sperm VAF to give you a defensible recurrence-risk number rather than a rule-of-thumb. You apply your service's Analysis Template to generate a draft AI interpretation. You review and edit the draft, then export the clinical letter, the patient-friendly summary, and the pedigree as PDF and SVG.

After the visit. When new information arrives — death certificate, test result, additional relative — you open the pedigree, update the record, regenerate reports as needed, and the case is ready for the next touchpoint. For cascade testing, you annotate each relative as they are contacted and tested.

Reproductive counselling and non-classical inheritance

A large share of reproductive-medicine referrals sit outside the classical Mendelian three: a woman whose brother had an X-linked dominant disorder that is lethal in males, a family with an affected child through the maternal mitochondrial line, a couple with a previous Angelman-syndrome pregnancy, siblings with Usher type 2 where neither parent is affected. Evagene now models all four of these inheritance patterns directly on the pedigree, with offspring risks tailored to the mechanism. Every model links back to the in-app risk models guide for the full derivation.

For the full per-model derivation and counselling scripts, see the risk models guide and the individual diseases catalogue entries.

Frequently asked questions

Further reading

• Clinical genetics pedigree tools: a field guide
• Pedigree drawing software
• Hereditary cancer risk assessment
• Evagene for clinical geneticists
• Evagene for genetic nurses and specialist genetic counsellors
• Evagene for patients and families
• The Evagene platform