Your Expertise Is Irreplaceable. Your Time Is Not.
Interpreting genetic variants requires years of specialized training, deep clinical knowledge, and the kind of judgment that cannot be automated. What can be automated is the hours spent cross-referencing databases, searching literature, and compiling evidence before your interpretation begins.
Helena handles the evidence gathering. You do what only you can do.
The Real Bottleneck
Clinical variant interpretation is not slow because geneticists think slowly. It is slow because evidence gathering is manual, repetitive, and time-consuming.
Without Helena
Per case, typical workflow
With Helena
Same case, same rigor
Same evidence. Same standards. Your clinical judgment throughout.
Clear Division of Responsibility
Helena is a tool, not a colleague. It has a clearly defined scope -- and everything outside that scope is yours.
What Helena Does
Automated evidence gathering
Cross-references ClinVar, gnomAD, dbNSFP, and ClinGen in seconds
Searches millions of PubMed publications for relevant literature
Maps ACMG/AMP criteria against variant evidence systematically
Matches patient phenotype (HPO) against gene-disease profiles
Formats structured reports with full evidence attribution
Completes evidence preparation in minutes, not days
What You Do
Clinical expertise that cannot be automated
Applies clinical judgment that no algorithm can replicate
Integrates patient history, family context, and clinical presentation
Evaluates edge cases where guidelines require expert interpretation
Makes the final classification decision on every variant
Communicates findings to patients and referring physicians
Determines clinical actionability and management recommendations
Your Expertise, Amplified
Helena does not make geneticists faster by cutting corners. It makes them faster by removing the bottleneck that has nothing to do with clinical skill.
Deeper Evidence Access
Every variant is annotated with 60+ data points from established databases. Literature search covers millions of publications with pre-extracted gene and variant mentions. You see more evidence than manual search could surface in a day.
Consistent, Reproducible Workflow
The same variant gets the same evidence package every time -- no missed databases, no overlooked publications. Your clinical interpretation is built on a complete, standardized foundation rather than what time permitted.
More Time for Complex Cases
When routine evidence gathering takes minutes instead of hours, you have time for the cases that actually need your expertise -- rare variants, conflicting evidence, novel gene-disease associations, and challenging phenotypes.
Full Audit Trail
Every database queried, every criterion applied, every publication cited is documented. When you sign a report, you can trace exactly where each piece of evidence came from. Your professional reputation is backed by complete transparency.
What Always Stays in Your Hands
These are not limitations of the software. These are design decisions. Clinical genetics requires human judgment, and Helena is built to respect that.
Helena will never:
Make a diagnostic decision
Override your clinical judgment
Classify a variant without your confirmation
Replace the context only you have about your patient
Communicate results to patients or clinicians
Determine treatment or management plans
The geneticist decides. Helena does the research.
See How It Supports Your Workflow
Request a demo to see Helena process a real case -- and see exactly what lands on your desk for review.