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Families

Cascade testing: helping families pass on the news

When a woman carries an inherited variant, her relatives may too. Most of them never get tested.

The HYPHAE team

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5

min read

Families

Each first-degree relative of someone with an inherited variant, such as BRCA1 or BRCA2, has a one in two chance of carrying it. Testing them, starting with the closest, is called cascade testing.

In practice, uptake is low. In one Italian study, 22.8% of at-risk relatives of BRCA carriers went on to be tested. The news often stops with the woman who was tested first.

Why the message gets lost

• She doesn’t know how to explain the result.

• Some relatives are distant, or the family doesn’t talk about illness.

• Relatives don’t know where to go or what to bring.

What helps

• A clear, written family letter that explains the result and how to get tested.

• Choosing when and to whom to send it, one relative at a time.

• A care team that can see who has been told, with the woman’s consent.

In HYPHAE, the woman writes and sends family letters from her app, and her care team sees which relatives have been informed.

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