Genetic cancer risk assessment
A counselling-led assessment of whether your personal and family history suggests an inherited cancer risk, sometimes followed by a blood or saliva test to look for a faulty gene.
✓ Medically reviewed by a GMC-registered consultant · last reviewed September 2026 · next review September 2027 · how we review
In short
- It is counselling-led: the goal is to understand your inherited cancer risk and your options, not simply to 'get a test'.
- A result cannot tell you whether you will get cancer, and a normal result does not remove everyone's baseline risk; some results come back uncertain (a 'variant of uncertain significance').
- Results often take weeks to months, and a clear answer may need a sample from an affected relative first.
- Your result can affect blood relatives and raises family and insurance questions, so a service with proper counselling and clear consent matters.
A plain-English summary. The detail — including risks and recovery — is below.
At a glance
A general guide. Your specialist will give you advice for your situation.
Can explain a strong family history of cancer
Predictive testing in an unaffected person is often uninformative when no specific gene change is known in the family.
You discuss your family history and what testing could show. A sample is taken only if testing is appropriate and you consent.
Counselling before and after the test, with time to ask questions.
You discuss your family history and what testing could show. A sample is taken only if testing is appropriate and...
Results commonly take several weeks to a few months. It is normal to feel anxious during this time; the team can...
You are given the result with time to discuss what it means, usually at a follow-up appointment or arranged...
If a gene change is found, you discuss screening and risk-reducing options, and how relatives can be offered...
What is a genetic cancer risk assessment?
A genetic cancer risk assessment looks at whether the pattern of cancer in you and your blood relatives points to an inherited (passed-down) cancer risk. It usually starts with genetic counselling: a trained genetic counsellor or clinical geneticist goes through your family tree, the types of cancer involved and the ages people were diagnosed.
For some people, the next step is a genetic test on a blood or saliva sample. This looks for changes (variants) in genes such as BRCA1, BRCA2 and the Lynch syndrome genes that can raise the risk of certain cancers. Not everyone who asks needs a test, and the assessment is as much about understanding risk and choices as about the test itself.
A test can sometimes explain a strong family history and help you plan extra screening or risk-reducing steps. It cannot tell you that you will, or will not, get cancer, and a 'normal' result does not remove the risk that everyone carries. Many results are clear, but some come back uncertain.
Genetic results have implications beyond you: they can affect blood relatives who may share the same gene, and they raise questions about how and what to tell your family. Good counselling is what makes the result usable rather than just frightening.
Types, options & approaches
There may be different ways to do this. The right approach depends on the clinical question and your circumstances.
Testing an affected relative first vs testing you directly
| Approach | What it can show |
|---|---|
| Test a relative who has had cancer | Most likely to find the family's exact gene change, making your result clearer |
| Test you when no relative is available | May still help, but a 'normal' result is harder to interpret |
| No test, risk assessment only | Can still guide screening and risk-reducing options based on family history |
Your genetics service will advise who is best to test first; it is not always you.
Preparing for your test
- Gather your family history: which relatives had cancer, what type, and roughly what age they were diagnosed.
- Find out whether any relative has already had genetic testing, and if so, exactly which gene change was found.
- Bring any relevant medical letters or pathology reports you already have.
- Think about why you want the assessment and what you might do with the result, so you can discuss this with the counsellor.
- Consider talking to close relatives in advance, as a result may have implications for them too.
- Note any questions about insurance, family planning or risk-reducing options to raise at the appointment.
- Allow time emotionally; some people find these conversations harder than expected.
What happens
At the appointment a genetic counsellor or clinical geneticist takes a detailed family history and usually draws a family tree. They explain what the pattern does and does not suggest, and whether a test is likely to help.
If testing is appropriate and you choose to go ahead, a blood sample (or sometimes a saliva sample) is taken and sent to a genetics laboratory. You will talk through what each possible result would mean before any sample is taken, so your consent is informed.
Results are usually given at a follow-up appointment or by arrangement, with time to discuss what they mean for you and your family. If a faulty gene is found, the team will explain screening, risk-reducing options and how relatives can be offered testing.
Is this test right for me?
A good consultation should explore whether it's the right choice for you now — including reasons to wait or consider something else.
May not be suitable if…
- Predictive testing in an unaffected person is often uninformative when no specific gene change is known in the family.
- Testing without counselling, where you have not understood what an uncertain or positive result would mean.
- Using a genetic test to reassure yourself about a current symptom; symptoms need their own assessment.
- Children are generally not tested for adult-onset cancer-risk genes until they are old enough to decide for themselves.
Delay or rearrange if…
- You are in acute distress or crisis and need support before making testing decisions.
- A relative who has had cancer could be tested first, which would make your result clearer.
- You have not yet had counselling or fully understood the implications, including for relatives and insurance.
- You are making a time-pressured decision (for example about surgery) without adequate support; ask whether it can wait for proper assessment.
Alternatives to discuss
- Risk assessment and a family tree without genetic testing, guiding screening based on history.
- Enhanced screening (for example breast or bowel) based on family history alone.
- Testing an affected relative first, then offering you a clearer predictive test.
- Watchful waiting with a clear plan to revisit if the family history changes.
Before you decide
Use this as a shared-decision checklist. The aim is not just “can this be done?”, but whether it is right for you, now, with the risks and alternatives clearly understood.
What matters most to me?
Think about symptoms, daily life, work, caring responsibilities, sport, fertility, travel, appearance and anxiety — the right choice depends on your priorities, not just the medical facts.
What are all my options?
Ask about waiting, monitoring, medicines, rehabilitation, a smaller or larger procedure, a different test, NHS referral, or a second opinion where that would help.
What would make me pause?
Active infection, pregnancy, unstable medical problems, smoking, medicines that increase bleeding, poor support at home, or feeling pressured are all reasons to slow down and get tailored advice.
What happens if I do nothing today?
For some problems, waiting is safe; for others, delay can make treatment harder. A good consultation should explain the trade-off in plain English.
Benefits
- Can explain a strong family history of cancer
- May identify people who would benefit from extra screening or risk-reducing options
- Allows blood relatives to be offered testing for a known family gene change
- Can provide genuine reassurance when a known family variant is not inherited
- Helps you make informed decisions with proper support, rather than guessing from family history alone
Risks & complications
- Anxiety or distress while waiting for, and after receiving, results
- An uncertain result (a 'variant of uncertain significance') that cannot yet be acted on
- Finding the test does not fully explain your family history
- Difficult conversations with relatives about shared risk
- An unexpected finding in a gene you were not mainly concerned about
- Discovering risk that affects family planning or relationships
- Needing further tests or a sample from a relative before your result can be interpreted
- A result that is later reclassified as more or less significant as knowledge improves
- Sample or laboratory issues requiring a repeat test
The biggest issues are usually emotional rather than physical, and the chance of an uncertain result. Ask how uncertain results are handled, how long results take, what a 'normal' result does and does not mean for you, and how the service supports you in telling relatives.
Published figures to discuss
Numbers in this area are easy to misuse. The chance of finding a gene change, and what it means, depends heavily on your personal and family history, which genes are tested, and whether a relative's result is already known. Uncertain results are common, and a 'normal' result does not remove everyone's background risk. We have not stated cancer-risk percentages here because they vary by gene, variant and individual, and should come from your genetics service for your situation.
| Figure | Reported range | How to interpret it | Source / confidence |
|---|---|---|---|
| Variant of uncertain significance | Recognised result category | A VUS should not usually drive major surgery or screening decisions as if it were a pathogenic variant. | Guide sourcesClinical context |
| Negative test falsely reassuring | Family-history dependent | A negative result does not remove all inherited or familial risk, especially if no affected relative has been tested. | NICE CG164 — Familial breast cancer: classification, care and managing risknice.org.ukSource-linked context |
| Psychological and family impact | Common consent issue | Results may affect relatives, insurance/employment concerns, reproductive choices and anxiety. | Guide sourcesClinical context |
| Risk-reducing option misunderstood | Gene- and cancer-dependent | Enhanced screening, medicines and surgery have different benefits and harms for BRCA, Lynch and other syndromes. | NICE CG164 — Familial breast cancer: classification, care and managing risknice.org.ukSource-linked context |
These are literature figures, not a personalised prediction. Your own risks and likely benefits depend on your circumstances, your health, and how your care is carried out and followed up.
What happens afterwards
There is no physical recovery from giving a blood or saliva sample. What matters afterwards is understanding the result and having support to act on it and to share it with family if needed.
- Feeling relieved, worried, or a mix of both after a result
- Needing time to take in what an uncertain result means
- Wanting to talk things through more than once
- Thinking about how and when to tell relatives
Aftercare
- Make sure you understand your result and write down the exact gene and variant name if one is found.
- Ask for a written summary or letter you can share with relatives and your GP.
- Discuss what extra screening or risk-reducing options, if any, are recommended for you.
- Take time over decisions; most options do not need to be rushed.
- Use any counselling or support offered if you are finding the result hard.
- Keep your result somewhere safe, as relatives or future clinicians may need the details.
- Family history written down (relatives, cancer types, ages)
- Details of any relative's previous genetic result
- Relevant medical or pathology letters gathered
- Questions about insurance and family implications noted
- Someone to talk to about the result if needed
- Plan for how you might share results with relatives
⚠ Get urgent help if…
- New or changing symptoms that worry you should be assessed on their own merit, whatever your genetic result.
- Do not delay seeing your GP about a breast lump, change in bowel habit, abnormal bleeding or other red-flag symptoms while waiting for a genetic result.
- Severe distress, hopelessness or thoughts of self-harm after a result should prompt urgent support from your GP or a crisis service.
- A normal genetic result does not mean symptoms can be ignored.
- If a clinic offers a test that seems to bypass counselling or rushes consent, treat that as a warning sign about the service, not reassurance.
Who to contact: your clinician, clinic or test provider first (keep their number to hand). For urgent advice when you can't reach them, call NHS 111. In an emergency, call 999.
General guidance — it doesn't replace the specific advice your specialist gives you.
Results & realistic expectations
A clear result can fall into a few groups: a faulty gene is found, no faulty gene is found, or a change of uncertain meaning is found. Finding a known family gene change explains risk and allows action. Not finding the family's known change can be reassuring. A 'normal' result when no family gene is known is harder to interpret, and does not remove the background risk everyone has.
An uncertain result (a variant of uncertain significance) means a change was seen but it is not yet known whether it is harmful. These are common, are usually managed based on your personal and family history rather than the variant itself, and may be reclassified in future as knowledge grows.
A genetic result generally does not change, but how it is interpreted can. Uncertain variants may be reclassified, and risk estimates and screening recommendations can evolve. It is worth keeping your result on record and checking with your genetics service if your family history changes or several years pass.
Related tests, treatments or support
A genetic cancer risk assessment is often part of a wider plan that can include breast, bowel or other screening, discussions about risk-reducing surgery or medicines, and referral to specialist teams. These are decisions to make with your clinicians over time, not all at once.
Follow-up & long-term care
Follow-up depends on the result. If a faulty gene is found, you will usually be linked to screening or specialist services and offered support in telling relatives. If no faulty gene is found, your GP or genetics service can advise on screening based on family history. Ask who your point of contact is for future questions.
- Keep a written record of your exact result for relatives and future clinicians.
- Attend any extra screening that is recommended for you.
- Let your genetics service know if your family history changes significantly.
- Be aware that uncertain variants may be reviewed again over time.
Repeat, follow-on and what comes next
- An uncertain variant may be reclassified later as harmful or harmless as evidence grows.
- A result may need a relative's sample before it can be fully interpreted.
- Occasionally a sample fails and the test must be repeated.
- Screening and risk-reducing recommendations can change as guidelines evolve.
Ask what happens if the result is unclear or needs repeating, and what is included if further tests or follow-up are needed.
What good aftercare looks like
- Counselling before and after the test, with time to ask questions.
- A clear written result naming the exact gene and variant if one is found.
- A plan for screening or risk-reducing options where relevant, linked to specialist services.
- Practical support for telling relatives and offering them testing.
- A named contact for future questions, including if a variant is later reclassified.
What affects the cost
Costs vary a great deal between people and providers, and we don't publish prices. What matters is understanding what drives the cost and making sure your quote is complete. The main things that affect it:
- Whether you have counselling only, or counselling plus a laboratory test
- The type of test: a single known family variant versus a multi-gene panel
- Whether a relative needs testing first to interpret your result
- The seniority of the clinician (genetic counsellor versus clinical geneticist)
- Follow-up appointments to discuss results and onward plans
- Any written reports or letters for your GP, relatives or insurers
- Whether genetic counselling is included before and after any test
- Exactly which gene or panel is being tested and the laboratory used
- How long results take and how they will be given to you
- What happens, and what it costs, if the result is uncertain or needs a relative tested
- Whether a written report and GP letter are included
- What follow-up and support are included after the result
On the NHS? Genetic cancer risk assessment is available on the NHS when you meet referral criteria based on your personal and family history; private access is mainly for speed, choice or self-referral, but proper counselling should be included either way.
You're entitled to your total cost in writing — including reports, follow-up and what happens if the result is inconclusive — before you decide.
Consent traps and marketing red flags
These are not small details. They are often where patients lose choice, time to reflect, or realistic expectations.
Consent traps
- Offering a test without explaining what an uncertain or positive result would mean.
- Not discussing the implications for blood relatives before testing.
- Glossing over insurance and family-planning considerations.
- Presenting a 'normal' result as proof you will not get cancer.
- Rushing consent so you cannot consider whether you actually want to know.
Marketing red flags
- Direct-to-consumer 'cancer gene' tests sold without genetic counselling.
- Implying a normal result means you are safe from cancer.
- Selling a large gene panel without explaining the higher chance of uncertain findings.
- Promising clear, actionable answers for everyone when many results are uncertain.
- Skipping discussion of family and insurance implications to make the test seem simpler.
Choosing a specialist safely
- Check the specialist is on the GMC Specialist Register for this area.
- Make sure they work at a CQC-registered service, and look for membership of the relevant Royal College or professional body.
- You're entitled to time to consider and to have your questions answered before you agree — the specialist who looks after you should explain it, not a salesperson.
- Be wary of pressure: time-limited offers or deposits taken before you've had time to think are red flags, not bargains.
- You're entitled to your total cost in writing — including any follow-up — before you decide.
Questions to ask your medical professional
Take this to your consultation. A good specialist will welcome every one of these.
- Based on my family history, do you actually recommend a test, or risk assessment alone?
- Who in my family would it be best to test first?
- What will each possible result (positive, negative, uncertain) change for me?
- What does a 'normal' result really mean for my risk?
- How are uncertain results handled, and might my result change over time?
- What support is there for telling my relatives, and what should I know about insurance?
- Are you on the GMC Specialist Register for this area, and which Royal College or professional body are you a member of?
- Will you be the specialist who carries out my test, and who looks after me afterwards?
- What are the risks for someone like me, and how often do your own patients have a problem or need it repeated or redone?
- What does a realistic result look like — and what can this test not achieve?
- What are my options, including waiting, doing nothing for now, or choosing a different approach?
- Can I have written information, results and aftercare instructions in a format I can use, including any accessibility or communication support I need?
- What is the total cost in writing, including any follow-ups, and how much time do I have to decide?
Frequently asked questions
Can I get genetic testing on the NHS?
Will the result tell me whether I'll get cancer?
Will a genetic test affect my insurance?
What is a 'variant of uncertain significance'?
Does my result affect my relatives?
Should I test myself or a relative who has had cancer?
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How we made this page
Medically reviewed by a GMC-registered consultant. Written in plain English, checked against NHS, NICE, GMC and relevant Royal College / specialist-society guidance, and kept under review. No clinic paid to appear on this page, and we publish no pricing. This is general information to help you prepare — it is not a substitute for advice from your own clinician. How we review our guides →
Source hierarchy: UK regulator and NHS/NICE guidance first, then relevant Royal College or specialist-society guidance, then peer-reviewed evidence for procedure-specific figures where available.
Sources & standards: Cancer Research UK — Genetic testing for cancer risk Macmillan Cancer Support — Genetic testing for cancer NICE CG164 — Familial breast cancer: classification, care and managing risk NHS England — Code on Genetic Testing and Insurance (HM Government/ABI) NHS Genomics Education — Variants of uncertain significance
Reviews reflect patients' experience of care, not clinical outcomes. For procedure volumes and outcome data see PHIN.
Last medically reviewed 2026-09-21. Spotted something wrong or out of date? Report an error in this guide.
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