Evagene for patients and families

Most of what clinicians know about your family's health comes from what you tell them, in the first ten or fifteen minutes of a consultation. You sit down, they open a notebook or a screen, and they ask about your mother, your father, your siblings, your grandparents. In a rushed appointment, you remember some of it and forget some of it. A great-aunt who died of "something in the stomach"; a cousin who was "always unwell"; a grandfather who died before you were born and whom nobody in your generation knows much about. The details slip, and the clinician's picture is shaped by whatever happens to surface in the conversation.

Evagene is a tool that lets you own that picture. It is a simple web-based family tree for health — browser-based, no installation, free during Alpha — where you build a structured version of your family's health history once, at your own pace, and bring it with you to every appointment. It is designed so that the output looks like a medical pedigree (which is what your clinician will read fastest), even though the process of building it looks more like making a family tree.

The patient and family workflow

Most people come to family history for one of a few reasons. A close relative has been diagnosed with a hereditary condition and you have been told you should consider testing. You have been referred to a clinical genetics service and want to prepare. A direct-to-consumer genetic test (23andMe, AncestryDNA) came back with a flagged variant and you want to understand it. You have noticed a pattern in the family — several relatives with breast cancer, or several with colon cancer — and you want to have a sensible conversation with your GP about it. You are simply health-curious and want to create a record while older relatives can still tell you what they remember.

The work, in each case, is to gather what you know, record it in a form that a clinician can read, and be honest about what you do not know. That usually means a phone call or two with an older relative to clarify who had what; a dig through family records for causes of death; a look at any genetic test results that are already in the family. It is a couple of evenings of work, not a research project, and the goal is not completeness — it is a useful starting point for the clinician.

What patients and families need from a family health history tool

• Simple enough to use — without a manual, in a few hours spread over a couple of evenings.
• Respectful of uncertainty — allows you to leave fields blank where you do not know, without the tool complaining.
• Clinically readable — produces a pedigree a clinician will recognise and use, not an idiosyncratic diagram.
• Private — your family's health history stays yours; sharing happens on your terms.
• Interoperable with 23andMe — if you or a relative has a direct-to-consumer genetic test, you can bring it in.
• Shareable — export as PDF or share a link to the clinician before or during the appointment.
• Free at point of use — because patients should not be the ones paying for this.
• Honest about limits — the tool helps you prepare; it does not diagnose or replace a clinician.

How Evagene supports patients and families

Drawing a family tree in plain steps

Building your pedigree in Evagene is a step-by-step process. You start with yourself and add your parents, then siblings, then children. You add aunts, uncles, and grandparents if you know them. For each relative you can record their sex, whether they are still alive, their age or age at death, and any conditions you know about. You do not need to understand clinical pedigree notation — Evagene applies the correct symbols automatically. A square is a man; a circle is a woman; a filled symbol is an affected relative; a line through the symbol is a relative who has died.

Because Evagene is a clinical tool in the background, the pedigree you end up with is technically correct even though building it felt like building a family tree. When you share it with your clinician, they read it immediately — they do not need to translate your diagram into theirs.

Recording health information in plain language

For each affected relative you select their condition from a list of 200+ common conditions. The list includes cancers (breast, ovarian, colorectal, prostate, pancreatic and others), cardiac conditions (heart problems of various kinds), diabetes, neurological conditions, and many more. If you only know the condition in general terms ("heart trouble," "bowel cancer"), that is a starting point; a clinician can refine it at your appointment. You can record age at diagnosis and age at death. You can also record cause of death for deceased relatives, and a list of known allergies.

If you do not know a detail, leave it blank. A partial pedigree is much more useful to a clinician than none, and the software will not force you to fill in fields you are guessing at.

Importing 23andMe data

If you (or a relative) have taken a 23andMe test, you can bring the results into Evagene. The raw SNP file, the traits report, and the health report all import. For the individual whose test you are importing, the software works out blood type and secretor status from the relevant SNPs and pulls across the 50+ traits covered in 23andMe's reports. If several relatives have tested, you can import each of their files against their record in the pedigree.

This is useful for two reasons. First, it saves you typing: information that is already structured in the 23andMe export appears in the pedigree without re-entry. Second, it links the direct-to-consumer genetic dimension of your family to the family structure, which is much more informative than either on its own.

What clinical interpretation still needs a clinician

Evagene can run published risk models on your pedigree — BRCAPRO for hereditary breast and ovarian cancer, MMRpro for Lynch syndrome, PancPRO for pancreatic cancer. It can also generate a written interpretation using AI. It is important to be honest about what these outputs are and are not.

They are: published models, applied to the family structure you have entered, producing numerical and narrative outputs. These can be useful starting points for a conversation with your clinician, and the software will flag patterns worth discussing.

They are not: a clinical diagnosis, a recommendation to test, or a substitute for a qualified clinician's interpretation. A genetic counsellor or clinical geneticist reviews your pedigree in the context of your personal history, your clinical examination, and the latest guidelines; that is the layer of judgement the software cannot replace. If anything in the tool's outputs concerns you, the right response is to make an appointment to discuss it, not to act on the numbers directly.

Sharing with your clinician

When you have built your pedigree to a useful state, you can share it with your clinician in several ways. Export the pedigree as PDF and email it or bring a printed copy to your appointment. Export the full record as a PDF report for the medical file. If your clinician's service uses Evagene, you can share the pedigree directly through the platform. The embedded pedigree viewer (a small piece of software your clinician can put in their own system) can also display your live pedigree.

Because the pedigree is in standard medical notation, any clinician will read it in seconds. This saves time at the appointment — time that can go into discussion rather than re-taking the family history.

A typical patient session in Evagene

Step 1. Sign up for Alpha. Join the waiting list at evagene.com. Free during Alpha; no credit card.

Step 2. Start with yourself. Add yourself as the proband (the starting point). Enter your sex and age.

Step 3. Add immediate family. Parents, siblings, children. For each, add what you know — alive or deceased, age or age at death, conditions. Leave blanks where you do not know.

Step 4. Extend to extended family if you can. Grandparents, aunts, uncles, cousins. This may require a phone call to older relatives; that conversation is often useful in itself.

Step 5. Import 23andMe data if you have it. For any relatives with a direct-to-consumer test, bring the files in.

Step 6. Export and share. Export as PDF; bring to your appointment or email in advance.

Step 7. Keep it up to date. New diagnoses, new births, new information from older relatives — add them as they come.

Frequently asked questions

Further reading

• Evagene for genealogists exploring medical family history
• Evagene for genetic counsellors
• Evagene for clinical geneticists
• Hereditary cancer risk assessment
• GEDCOM pedigree software
• Pedigree drawing software