CION Cancer Clinics
Uninformative negative: the genetic result nobody explains | CION Cancer Clinics
An uninformative negative means the test found no fault in you, but no fault was known in your family to look for. So it cannot rule out an inherited cause. It is different from a true negative, where a relative's known fault was checked and you do not carry it. This page explains how to tell them apart, why it happens so often, and what usually comes next. At CION Cancer Clinics in Hyderabad, our oncologists review your family history with you and guide you to the right genetic counselling and testing.
On this page
- What does an uninformative negative result mean?
- When is a negative result uninformative?
- What usually happens after an uninformative negative?
- The words you will meet, in plain language
- True negative and uninformative negative compared
- What this page cannot tell you
- Four things people assume about a negative result
- Common questions about uninformative negatives
The short answer
What does an uninformative negative result mean?
It means the test found no fault in you, but nobody in your family has been shown to carry one either. So the negative cannot rule out an inherited cause. It is different from a true negative, where a fault already known in the family was looked for and is not there.
Why it is called uninformative
A negative result is only as strong as what it was compared with. If your relative with cancer carries a known fault and you do not, that is real reassurance. If nobody with cancer in the family was tested first, your negative could mean there is no fault, or that the fault is in a gene or a form the test did not look at.
The most common way it happens
A well relative is tested first because the relative who had cancer has died, lives far away, or declined testing. This is very common in Indian families, where the person who was ill may have been treated years ago in a district hospital with no genetic testing on offer.
An uninformative negative is not bad news. It is incomplete news, and your screening is still planned sensibly from your family history.Telling them apart
When is a negative result uninformative?
The report itself often looks the same in every case. What differs is what was known about your family before the test.
No affected relative was tested
The classic case. You tested negative, but nobody with cancer in the family has been tested, so there was no known fault to look for. Your result cannot rule out an inherited cause.
The affected relative also tested negative
Nobody in the family has a fault the test can find. This lowers the chance of a single inherited cause, but a strong family history still counts, and screening may still be earlier than usual.
Possible reasons
- The gene was not on the panel
- The fault is a kind the test cannot see
- The cause is a gene not yet discovered
- The pattern comes from shared habits or surroundings
A true negative, for contrast
A relative carries a known fault and you do not. This is the strongest negative there is. Your risk usually returns to that of others your age.
Negative, but with a VUS
No known fault was found, but a variant of uncertain significance was. The result is treated as uninformative until that variant is settled, and it should not change your care.
Not sure whether this applies to you?
Ask an oncologistAfter the result
What usually happens after an uninformative negative?
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The counsellor revisits the family tree
Who had cancer, what kind, and at what age, on both sides. This tree now carries more weight than the negative result does.
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They ask whether an affected relative can be tested
A living relative with cancer is the best person to test. If they have died, a tissue block stored from an old biopsy or surgery can sometimes still be tested. Ask the hospital's pathology department.
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They check what the first test covered
A narrow test may have looked at only a few genes. A wider panel is sometimes worth considering, but only if it would change what happens next.
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Screening is planned from the family history
Without a known fault, your screening is based on the pattern in your family. Sometimes that means starting earlier than usual. Often it means routine screening for your age.
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The question is kept open
Tests improve and new genes are found. If more relatives develop cancer, or better tests arrive, the counsellor may suggest looking again later.
On your report
The words you will meet, in plain language
- True negative
- You do not carry a fault already known to run in your family. This is the most reassuring negative.
- Uninformative negative
- No fault found, but no family fault was known to look for. An inherited cause is not ruled out.
- Affected relative
- A family member who has or had cancer. Testing them first gives everyone else's result its meaning.
- Panel
- The list of genes the test looked at. A gene not on the panel was not checked at all.
- Residual risk
- The risk that remains after a negative test, judged from your family history. It is rarely zero for anyone.
- Tissue block
- A small piece of tumour kept in wax after a biopsy or operation. DNA can sometimes be taken from it, even years later.
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Side by side
True negative and uninformative negative compared
Being straight with you
What this page cannot tell you
It cannot tell you which kind of negative you are holding. The report often does not say, because the lab may not know your family history. Only the counsellor who ordered the test, with your family tree in front of them, can say whether your negative is true or uninformative.
It cannot tell you whether to test again
A wider panel, or testing a relative with cancer, is sometimes worth doing and sometimes adds nothing. That depends on your family pattern, what was tested the first time, and the cost to your family. Your counsellor can weigh those with you.
Who this does not apply to
If a relative's known fault was checked and you do not carry it, you have a true negative, and most of this page does not apply. If there is only one older relative with a common cancer in your family, a negative rarely changes anything, and routine screening for your age is usually right.
Ask your counsellor directly: "Is my negative true or uninformative?" It is a fair question and a common one.Commonly believed
Four things people assume about a negative result
Only when a known family fault was looked for. Without that, a negative in a well relative cannot rule an inherited cause in or out.
Your children can inherit from their other parent too, and an uninformative result does not clear your side either. Their advice comes from the whole family tree.
The test worked. It read the genes it was asked to read and found no fault in them. The limit is in what it was compared with, not in how it was done.
Not after an uninformative negative. Your screening is set from your family history, and a strong history may still mean starting earlier than others your age.
Questions we are asked
Common questions about uninformative negatives
Why did nobody explain this when I got my result?
It is easy to hear "negative" and stop listening, and some results are handed over quickly. Ask the doctor who ordered the test whether your negative is true or uninformative. If it is uninformative, ask how your screening should be planned from your family history instead.
My mother had cancer but has died. Can she still be tested?
Sometimes. If tissue from her biopsy or surgery was stored, DNA can occasionally be taken from it. Ask the hospital where she was treated whether a block was kept. Success depends on the age and condition of the sample, so it is worth asking early.
Should I have a bigger test instead?
Possibly, if your first test looked at only a few genes and your family history points elsewhere. But testing an affected relative is usually more useful than widening your own test. Your counsellor can tell you which step is more likely to give a real answer.
Does an uninformative negative mean I am high risk?
Not necessarily. It means your risk is judged from your family history rather than from a gene result. For many people that history points to routine screening. For some, with several young diagnoses, it points to earlier or closer checks.
Do my brothers and sisters need testing too?
Testing more well relatives usually adds little when no family fault is known. Their screening advice comes from the same family tree. The more useful step is testing someone who has had cancer, if that is possible.
Will my result ever be looked at again?
It can be. New genes are found and tests widen over time. If more relatives are diagnosed, or your counsellor thinks a newer test would help, they may suggest reviewing it. Keep your report safe and your contact details up to date.
Is this the same as "no reportable variants"?
Not exactly. "No reportable variants" describes what the lab found in your sample. Whether that finding is true or uninformative depends on what was known about your family. The same wording can sit on either kind of result.
Is a tumour test result the same thing?
No. This page is about inherited tests from blood or saliva. A tumour test looks for changes inside the cancer to guide treatment and is covered on the targeted therapy pages. A tumour test is not designed to rule out inherited risk.
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- MedlinePlus Genetics — What do the results of genetic tests mean?
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
- NHS — Predictive genetic tests for cancer risk genes
- Cancer Research UK — Inherited cancer genes and increased cancer risk
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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Not sure whether your negative result is true or uninformative?
Bring your report and what you know of your family history, and a counsellor will tell you which kind of negative you have and what it means for your screening. If a relative with cancer can still be tested, we will explain how. One helpline serves every CION centre.