Telling Your Family They May Have It
Reviewed by CDE Mehandi Sharma · Updated
A confirmed monogenic diagnosis makes you the bearer of news about other people, and that is an uncomfortable position that nobody prepares you for.
The facts you are carrying: each child of an affected parent has a 50% chance of having inherited the same variant, siblings carry the same chance, and one of your parents almost certainly passed it on.
What helps when telling them. Be specific rather than general — give the gene name, the variant, and a copy of the report. A relative arriving at a clinic with a named variant gets a serious response; one saying diabetes runs in the family does not. Explain that testing them is far cheaper and simpler than your own diagnosis was, because the laboratory only needs to check one known place in the gene.
Lead with what is in it for them. This is not a warning of doom; it is potentially a correction of their treatment, and in some subtypes the news that they need less than they are taking.
When they do not want to know. Some relatives will refuse, become upset, or dismiss it. That is their decision, and it is genuinely theirs to make — you have discharged your responsibility by telling them clearly once.
With parents there can be guilt in both directions. It is worth saying explicitly that nobody chose this and nobody knew.
Genetic counselling exists partly for this conversation, and asking for it is reasonable.