Evagene for genealogists exploring medical family history

Serious genealogy is a long game. You have spent years chasing parish records, shipping manifests, census returns, and family letters. You have built a five- or six-generation tree with sources and citations, verified dates and places, and resolved the inevitable inconsistencies. Your GEDCOM file is an archive of your family's history, carefully documented and continuously updated. What is missing from most genealogy software is the dimension that sits underneath the names and dates: the medical and genetic shape of the family.

Evagene is a purpose-built medical pedigree platform that was designed from the start to import GEDCOM, respect the work you have already done, and add a clinical-grade layer of health information, genetic annotation, and analysis. It is not a replacement for your genealogy software — keep Ancestry, MyHeritage, Gramps, or Reunion for discovery and sources — but if you want to explore "what does my family tree look like when I colour in the health and genetic data," Evagene is the tool for that.

The medically-curious genealogist's workflow

You probably started genealogy for historical reasons — curiosity about where your ancestors came from, who they were, how they lived. Over time, medical questions start to surface. A cousin is diagnosed with a hereditary condition; a parent asks about family history of diabetes or heart disease; a sibling sends you their 23andMe results and asks what it means that you share a particular SNP. Your tree has suddenly become relevant to present-day questions.

At the same time, the raw material for a medical family tree is mostly already in your notes. Causes of death from death certificates; ages at various illnesses from obituaries and family letters; stories passed down about "the family weakness for heart problems." The 23andMe or AncestryDNA genetic test that several of your relatives have taken is a rich source of trait and health data if you know how to ingest it. What you lack is a tool that speaks both genealogy and clinical genetics.

The workflow tends to be: import the tree, add the health data you already have, ingest any genetic test data available, look at inheritance patterns and consanguinity, and produce a clean export for sharing with family members or (if you are thinking about your own health) with a clinician.

What genealogists need from a medical pedigree tool

• GEDCOM import — a clean, faithful import of the tree you have already built, including names, relationships, dates, and places.
• Health annotation — a structured way to record causes of death, ages at illness, and conditions with proper clinical coding.
• Genetic test ingestion — import of 23andMe or equivalent raw SNP data for individuals who have tested.
• Trait inference — inference of blood type, secretor status, and other traits from SNP data.
• Inheritance pattern analysis — a way to see whether a condition in the family is tracking dominantly, recessively, or X-linked.
• Consanguinity detection — identification of cousin-unions and other related pairings, which matters for both genealogical accuracy and genetic analysis.
• Shareable exports — PDF, PNG, and GEDCOM for sharing with family members or clinicians.
• Data portability — everything exports in the same formats it imports from, so you are never locked in.

How Evagene supports genealogists

GEDCOM as a first-class format

Evagene treats GEDCOM 5.5.1 as a first-class format, not an afterthought. Imports handle individuals, families, relationships, dates, places, and source citations. Names flow in; birth, death, and marriage events flow in; the relationship structure reproduces faithfully. Once the tree is in Evagene, NSGC/ISCN medical notation is applied automatically — squares for male, circles for female, diamonds for unknown — so the same tree looks like a genealogical tree in Ancestry and like a medical pedigree in Evagene. A fuller discussion of GEDCOM in a clinical context lives in our GEDCOM pedigree software guide.

Export back to GEDCOM keeps the original tree structure plus any health annotations you have added in standard places (NOTE fields and custom tags), so re-importing into Ancestry, MyHeritage, or Gramps loses no data — although not all genealogy tools will display the added health fields natively.

Health and cause-of-death annotation

The 200+ condition catalogue covers the majority of what you are likely to encounter in a family history: cancer (breast, ovarian, colorectal, prostate, pancreatic, gastric, and others), cardiac conditions (cardiomyopathies, long QT, familial hypercholesterolaemia), diabetes, neurological disorders (Huntington's, familial Alzheimer's, motor neurone disease), connective tissue disorders, and more. Each condition has an ICD-10 code and, where relevant, an OMIM code. You annotate an individual with their condition, age at diagnosis, and age at death; affected shading is applied to the symbol automatically.

Cause of death is recorded against the death event; 55+ allergies and 50+ traits can be recorded per individual. For a tree where most of your health data comes from death certificates and family recollection, this covers what you are likely to be able to document.

23andMe and direct-to-consumer genetic data

Several of your relatives may already have tested with 23andMe. Evagene imports three kinds of 23andMe export: the raw SNP genotype file, the traits report, and the health report. For each tested individual, the SNP data is linked to their pedigree record. The platform infers blood type (ABO) and secretor status (FUT2) from the relevant SNPs, and resolves 50+ traits including taste perception, hair and eye characteristics, sleep profile, and metabolic markers.

If you have genotype files for several relatives, you begin to see the genetic shape of the family — who carries which SNPs, how traits segregate, and where unexpected findings appear. This is not a diagnostic exercise and 23andMe's health reports carry their own interpretation caveats (consult a clinician for anything that concerns you), but it gives the tree a genetic dimension your genealogy software cannot.

Inheritance analysis and consanguinity

When you have annotated a condition across a few relatives, Evagene's Mendelian inheritance analysis gives you a handle on whether it is tracking autosomal dominantly, autosomal recessively, or X-linked. For a hereditary cancer family, the BayesMendel suite (BRCAPRO, MMRpro, PancPRO) gives a carrier probability estimate — again with the caveat that this is not a replacement for clinical genetic assessment.

Consanguinity detection using Wright's coefficient identifies cousin-unions and other related pairings. In a deep tree (especially one from a small geographical community), such unions are easy to miss visually; the coefficient is calculated automatically for any specified individual.

Ancestry and automatic calculation

Evagene supports ancestry annotation on individuals and can auto-calculate descendant ancestry proportions for offspring. If your great-grandmother is recorded as 100% Italian and your great-grandfather as 100% Irish, your grandfather is 50% each, and so on. This is a cosmetic convenience rather than a clinical feature, but it reflects the kind of annotation genealogists typically already do by hand.

Shareable and portable

Exports are PNG, SVG, PDF, JSON, and GEDCOM. Share a PDF with a cousin who wants to see the tree with health annotations; share the GEDCOM with a relative who uses a different genealogy program; share a link to the embeddable viewer with a family WhatsApp group. Everything you put into Evagene can be extracted.

A typical genealogist session in Evagene

Step 1. Import your GEDCOM. Export your tree from Ancestry, MyHeritage, Gramps, or Reunion as GEDCOM 5.5.1 and import into Evagene. Names, dates, relationships, places, and sources come in.

Step 2. Annotate health and causes of death. Working through the tree generation by generation, you add conditions, ages at diagnosis, and causes of death for individuals where you have the data. NSGC/ISCN medical notation applies automatically.

Step 3. Import 23andMe files. For any tested relatives, import their 23andMe genotype and reports. The platform infers blood type, secretor status, and traits from the SNPs.

Step 4. Run analyses. Use the inheritance analysis to look at any apparent pattern; run consanguinity detection to find cousin-unions you may not have noticed; run BayesMendel for hereditary cancer families.

Step 5. Export and share. Export as PDF for family members, GEDCOM for re-import into genealogy software, or share directly via the embeddable viewer.

Frequently asked questions

Further reading

• GEDCOM pedigree software
• Mendelian inheritance calculator
• Hereditary cancer risk assessment
• Evagene for patients and families
• Pedigree drawing software
• The Evagene platform