How to prepare for a genetics appointment: what to bring and what to ask

A genetics appointment can feel like a big moment.

For many families, it comes after months of waiting, a long list of questions and a lot of not knowing. Then the appointment itself can go quickly. It is easy to arrive with ten questions in your head and leave having asked two.

A little preparation can help you use the time well and leave with a clearer idea of what happens next.

Quick answer: to prepare for a genetics appointment, gather your family health history, a short timeline of symptoms and changes, copies of letters and previous test results, and a written list of questions. If you can, bring someone with you. Before you leave, check what happens next, who to contact and when you should expect to hear.

What is a genetics appointment?

A genetics appointment is usually with a clinical geneticist (a doctor who specialises in genetic conditions), a genetic counsellor, or both.

In the UK, you usually need to be referred by a doctor or another health professional. The appointment may include:

• talking about the person's medical history

• talking about your family's health history

• an examination

• discussing whether a genetic test may be offered, and what it could and could not show

If a test is done, it is usually a blood or saliva sample. Results can take weeks or months.

Genetic counsellors help families understand the possible benefits and limits of testing, what results mean, and what they may mean for other relatives. They will not tell you what to decide. Their role is to help you make the decision that is right for your family.

If you are new to genetics, our guide to what a rare genetic disease is explains the basic terms in plain English.

Why preparing helps

Genetics appointments are often hard to get and can be emotionally draining.

Families tell us about:

• letters that arrive with a date but no explanation of what the appointment is for

• waiting months to see a genetic counsellor

• an hour-long appointment, and then nothing written down to look back on

If your letter does not say what the appointment is for, it is fine to call the clinic and ask. Knowing whether it is a first consultation, a results appointment or a family testing discussion can change what you bring.

What to bring to a genetics appointment

1. Your family health history

This is often one of the first things a genetics team asks about.

Try to cover both sides of the family, and three generations if you can: children, brothers and sisters, parents, aunts and uncles, and grandparents.

Useful things to note:

• who had a health condition, and what it was

• roughly how old they were when it started

• anyone with similar features or symptoms to the person being seen

• pregnancy losses, or children who died young

• whether any relatives have had genetic testing

You do not need a perfect record. "Don't know" is a useful answer, and so is "Dad's side, not sure".

Example:

"Mum's brother had seizures as a child, not sure of the cause. Maternal grandmother had hearing loss from her 40s. No genetic testing that we know of on either side."

2. A short timeline

A one-page timeline helps the team see the story in order, without you having to remember it under pressure.

You might include:

• when you first noticed something was different

• key milestones, and whether any were early, late or lost

• hospital stays, operations and big changes

• what has been tried and what happened

Example:

"Born at 38 weeks. Feeding difficulties from birth. Walked at 22 months. First seizure at 3 years. Hearing test referred at 4 years."

If you already keep notes between appointments, this is where they pay off. Our guide to what to track between rare disease appointments covers a simple way to do this.

3. Letters and previous results

Bring copies, or have them ready on your phone, of:

• clinic letters from other specialists

• any previous genetic test reports

• scan and test results you have been given

• discharge summaries

The genetics team may not have everything from other hospitals, especially if care is spread across different services.

4. Current medicines and care team

A short list of current medicines, and of who looks after what, saves time and avoids gaps.

Example:

"Neurology: Dr A, Evelina. Audiology: local hospital. Physio: community team. GP: Park Road Surgery."

5. Photos or videos, if they help

Some things come and go, or never happen in clinic. A short video or a few photos over time can show what is hard to describe.

You can ask the team whether they would find these useful.

Questions families may want to ask

Write your questions down before the day. Put the most important two or three at the top in case time runs short.

Before a test

• What is this test looking for?

• What could the result show, and what could it not show?

• How long will results take, and how will we get them?

• Could the result affect other family members?

• Who can we contact if we have questions while we wait?

When you get a result

• What exactly does the result say?

• Is the result clear, or is it uncertain?

• What does this mean for care now?

• Does this change who we should be seeing?

• Are there support organisations for this condition?

• Can we have a copy of the report and the clinic letter?

Sometimes a test finds a genetic change, but it is not yet known whether it causes a condition. This may be described as a "variant of uncertain significance". If you hear this phrase, it is worth asking what it means for your family now, and whether it might be looked at again in the future.

About the wider family

• Should other relatives be told?

• Can testing be offered to them, and how?

• What might this mean for future pregnancies?

On the day

• Bring someone if you can. One person can listen while the other takes notes.

• Take notes, or ask about recording. Many families find it hard to remember details afterwards. If you would like to record the conversation, ask first.

• Ask for plain English. It is fine to say "Could you explain that again in a different way?" or "What does that word mean?"

• Ask about the letter. Check whether you will get a copy of the clinic letter, and roughly when.

Before you leave

Families often say the hardest part is walking out without knowing what happens next.

Before the appointment ends, try to check:

• What happens next?

• Who will contact us, and when?

• Who do we contact if we have questions or nothing arrives?

Then, within a day, write down three things while they are fresh:

1. What was said

2. What happens next

3. What you still want to ask

Example:

"2 October, genetics clinic. Blood test taken today. Results in about 12 weeks, by letter and follow-up appointment. Still want to ask: should my sister be tested?"

If you are still waiting

Long waits for genetics appointments and results are common.

While you wait, it can help to:

• keep adding to your timeline and notes, so nothing gets lost

• ask the person who referred you about expected waiting times

• look for support from organisations such as Genetic Alliance UK, or a charity for the condition, if there is one

If something changes urgently while you are waiting, use your usual care team, NHS 111 or emergency services as you normally would (or your local equivalents outside the UK).

What to remember

You do not need to prepare everything perfectly. The most useful things to bring are:

• your family health history, including the gaps

• a one-page timeline

• letters and previous results

• a short list of questions, most important first

And before you leave, make sure you know what happens next and who to contact.

How Rarevia can help

Rare disease families often end up holding the whole story: what has happened, what has changed, the questions and what was said last time.

Rarevia is being built to make that lighter. Families will be able to say or write what is happening, as it happens, and Rarevia keeps it organised in one place. Whenever you need it, before an appointment or at any other time, a summary of how things are, recent updates and your questions are ready to share.

If you are tired of keeping it all in your head, join the waitlist and help shape Rarevia as it is built.

Sources and further reading

This article draws on NHS guidance on genetic and genomic testing and MedlinePlus Genetics guidance on what to expect at a genetic consultation, alongside what rare disease families have told us about genetics appointments. It is general information, not medical advice. Your care team can tell you what applies to you.

• NHS: Genetic and genomic testing

• MedlinePlus Genetics: What happens during a genetic consultation?

• Genetic Alliance UK: geneticalliance.org.uk