In an inherited condition, every diagnosed patient points to relatives who carry the same risk and do not know it. Why that is the cheapest patient finding available, and why it rarely happens.
Familial hypercholesterolaemia is the clearest example. It is autosomal dominant, so any first-degree relative of a diagnosed patient has roughly a one-in-two chance of carrying the same variant. Those relatives are walking around with lifelong elevated LDL and no symptoms, and most of them do not know.
The same logic holds across inherited conditions — some cardiomyopathies, several rare neurological and metabolic disorders, hereditary cancer syndromes.
Cascade screening is in the guidelines. It is performed inconsistently because it depends on a conversation that nobody owns.
The cardiologist has fifteen minutes and a patient in front of them who needs treating. Explaining that four relatives should be tested, and following up on whether they were, is not what the appointment is for and is not reimbursed. The patient leaves with the information and no structure for acting on it. Nothing is anybody's job, so nothing happens.
Give the patient the task, in a tool they are already using for their own treatment, and make it concrete: map your relatives, and invite the ones the guideline says should be tested.
That works for three reasons. The patient is motivated — they have just learned something about their own health that affects people they love. They know the family structure, which the clinician does not. And the invitation comes from inside the family rather than from a hospital, which is the difference between a message that gets read and one that gets filed.
The care team's workload does not increase. They see who has been invited and who has come forward.
For a sponsor recruiting into an inherited condition, this population is unusual on three counts at once. It is enriched — a one-in-two prior beats any population-level screen. It is reachable, through a patient who already has a relationship with a treating centre. And it is motivated, because the family already knows what is at stake.
Most patient finding works against all three of those. This works with them.
The screening itself serves the patient first and the trial second, which is the right order and also the reason it is acceptable to run at all. A diagnosed relative who never enters a study has still been found, which is the point.
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