A research second look for families
whose genetic tests have not given an answer.

Who it is for

• Families whose child has a rare disease that earlier genetic tests (an exome, a genome or gene panels) have not explained, or explained only with uncertain results.
• Families come through a partner clinic in Ukraine. There is no sign-up on this page.
• The family’s own doctor stays in charge: the doctor receives our notes and decides every next step.

What a family gets

• Three research whole genomes from saliva, usually for the child and both parents.
• One research RNA test from blood, for one family member. The blood draw needs the doctor’s agreement.
• Indaga’s reading of all the family’s results together: their earlier test reports and raw data files, the new genomes and the RNA test, read with today’s scientific databases.
• A technical note for the family’s doctor, and a plain-language summary for the family in Ukrainian or English.
• Help reaching the right expert centre in Europe, through the family’s own doctor.
• A second reading of all the data after 12 months.

Research RNA sequencing is a research test, run at a research lab under a case code; any clinical confirmation is ordered by the doctor at an accredited lab and paid separately.

How it works

1. The partner clinic proposes the family.
2. The parents give written consent before anything starts.
3. Saliva is collected from three family members, and blood from one, with the doctor’s agreement.
4. Indaga gathers the family’s earlier results and reads everything together.
5. The doctor receives a technical note, and the family a plain-language summary.
6. Every next step goes through the doctor. We explain which accredited labs and European expert centres could take it, and the doctor decides.

Any further research test is proposed to the treating doctor; any clinical confirmation is ordered by the doctor at an accredited lab and paid separately.

The programme’s aim

• To give families whose child has an unexplained rare disease a second, research look at their genetic data, with today’s knowledge.
• To give their doctors a clear path to the European expert centres that can take the next step.
• To build that path with partner clinics in Ukraine, so that more families can follow it.

What it is not

• It is research, not a diagnosis, not medical advice and not genetic counselling, and it does not replace the family’s doctor.
• Our results are research findings. A clinical result is confirmed by an accredited lab, ordered by the family’s doctor.
• Many families will not get a new answer. In published studies, re-reading earlier sequencing data with newer knowledge led to a new diagnosis in about 1 in 10 cases; those diagnoses were made by clinical teams (Dai et al., Genetics in Medicine 2022, a review of 29 studies: 10%, 95% CI 6–13%).
• We take no money from any lab or clinic.

The family’s data

• Nothing starts without the parents’ written consent.
• AI tools help us read each case, and what an AI tool reads is processed by its provider.
• We never sell a family’s data.