Know what was analyzed
Separate included genes, covered regions, reported variants, and possible limitations of the test.
Rare disease
When a disease is rare, information needs to be clear and organized.
Families facing rare disease uncertainty often carry scattered reports, difficult terms, years of referrals, and few people who understand their experience. Pocket Genes is built around organizing that path.
The human problem
The diagnostic odyssey is also an information odyssey.
In rare disease, a family may pass through pediatricians, specialists, labs, panel tests, exomes, second opinions, and reports that do not speak the same language. The result is a folder full of data, but limited practical clarity.
Pocket Genes proposes an experience where genetic information becomes traceable: what was tested, why it was ordered, which variants were reported, what terms mean, and which topics should be reviewed with professionals.
EPOFrare diseases as a core focus
PDFreports that can be organized and contextualized
3layers: information, preparation, and support
Concrete needs during a complex journey
The product should speak less about genetic curiosity and more about orientation, continuity, and support.
Understand what to ask
Prepare questions about inheritance, relatives, new genetic testing, reanalysis, counseling, and follow-up.
Find resources
Surface associations, registries, reference centers, guides, and educational material related to the condition.
Not be alone
Create pathways to find people, families, and communities with compatible experiences.
From chaos to continuity
A timeline for the genetic journey
The value is not only showing a result. It is being able to reconstruct the story: symptoms, tests, panels, findings, questions, appointments, and next steps.
Tests and reanalysis
Track report versions and keep visible when a result may need to be revisited.
Open questions
Save topics to discuss with specialists instead of depending on memory or scattered messages.
Family context
Organize relevant information about inheritance, carrier status, and family history.
Rare disease as mission
Community is not a secondary feature
For many rare diseases, finding another person with a similar variant, condition, or path can change the entire experience.
Associations and registries
Make it easier to find organizations and databases already working with each condition.
Specialists and centers
Help locate reference resources to better orient the next medical conversation.
Compatible stories
Enable responsible connections based on diagnoses, variants, symptoms, or shared questions.
Support without entering the medical act
The rare disease page should make clear that Pocket Genes supports organization and genetic literacy, but does not provide diagnoses or treatment decisions.
- Does not replace genetic counseling.
- Does not decide which test is appropriate.
- Does not interpret variants outside professional clinical context.
From uncertainty to a better prepared appointment
The goal is for a family to arrive at the next conversation with more order, better questions, and less mental load.