CION Cancer Clinics
When an older negative genetic test should be repeated | CION Cancer Clinics
An older negative genetic test is worth a second look if it read only a few genes, did not check for missing sections of a gene, was done on a well relative first, or if new cancers have appeared in the family. A negative for a fault already known in your family usually stands. This page explains how to tell the difference and how to get an old report reviewed. 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
- When should an old negative genetic test be looked at again?
- What makes an old negative worth a second look?
- How do you get an old result looked at again?
- What do the words about a negative result mean?
- Which old negatives need revisiting, and which do not?
- What this page cannot tell you
- Four things people believe about an old negative
- Common questions about repeating a negative test
The short answer
When should an old negative genetic test be looked at again?
An older negative is worth a second look when the test read fewer genes than today's tests, skipped the check for missing sections of a gene, was done on the wrong person, or when new cancers have appeared in the family since. A negative for a fault already known in your family is usually final and does not need repeating.
Why a negative result can age
A negative only covers what was read. Years ago, many families were tested for a small number of genes because that was all laboratories offered. Since then, more genes have been firmly linked to inherited cancer, and testing has become better at finding faults that older methods could miss. A report that was complete for its time can be incomplete today.
The negative that does not age
If a relative carries a known fault and you were tested for that exact fault and came back negative, the answer holds. You did not inherit the family fault, and a newer test will not change that. Your risk is then usually close to that of the general population, unless there is cancer on the other side of the family too.
Nothing about an old negative is wasted. It tells a counsellor exactly what has already been ruled out.Reasons to revisit
What makes an old negative worth a second look?
A counsellor looks for any of these when you bring in an older report.
It read only a few genes
Many older tests looked only at the two best-known breast and ovarian cancer genes. Several other genes linked to the same cancers are now tested routinely, and none of them were read.
It did not check for missing sections
Some faults are not spelling mistakes but whole sections of a gene that are missing or doubled. Older tests did not always look for these, and the report may not say so clearly.
The wrong person was tested
If a well relative was tested before anyone with cancer, a negative says very little. It may simply mean they did not inherit a fault that the family still carries.
Often looks like
- A daughter tested while her mother was never tested
- No known family fault to look for at the time
The family story has changed
A new diagnosis in a brother, an aunt or a cousin can change the pattern completely. So can learning, years later, what a grandparent actually died of.
Also counts
- A result from a home or online kit
- A test that checked only a few known changes
Not sure whether this applies to you?
Ask an oncologistGetting it reviewed
How do you get an old result looked at again?
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Find the original report
The full laboratory report matters, not a summary line in a discharge letter. It lists which genes were read and which methods were used. Old family files and email inboxes are worth searching.
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Bring it to a genetic counsellor
The counsellor checks exactly what was covered and compares it with what would be tested today for your family's pattern.
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The family tree is brought up to date
New diagnoses, ages and causes of death are added on both sides. This often matters more than the old report itself.
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A plan is agreed
It may be nothing further, a wider panel, a check for missing sections, or testing a different relative. Some laboratories can re-read stored data; others need a fresh sample.
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The new result is explained in person
Whatever the outcome, a counsellor explains it and what it means for screening and for relatives.
On your report
What do the words about a negative result mean?
- True negative
- You tested negative for a fault already found in your family. You did not inherit it.
- Uninformative negative
- No fault was found, but no family fault was known to look for. The question stays open.
- Panel
- A group of genes read together in one test. Older panels were often much smaller than today's.
- Deletion and duplication analysis
- A check for whole sections of a gene that are missing or doubled. Look for these words on your old report.
- Reanalysis
- Looking again at data already produced, using newer knowledge, without taking another sample.
- Reclassification
- A laboratory changing its view of a variant, meaning a spelling change, as evidence grows.
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Side by side
Which old negatives need revisiting, and which do not?
Being straight with you
What this page cannot tell you
It cannot tell you whether your own old result needs repeating. That depends on exactly what the laboratory read, how it read it, and what your family tree looks like now. A genetic counsellor can answer that in one appointment if you bring the full report.
It cannot interpret an old report
What your specific result means is a question for the counsellor who reviews it. Old reports use older wording, and a phrase that sounds reassuring may not mean what it seems. Please do not decide on your own that a result is out of date or still valid.
Who this does not apply to
Most people with an old negative do not need a new test. If you were negative for a fault already known in your family, or if your test was a recent panel chosen for your family's cancers, repeating it will usually add nothing. A counsellor will tell you that plainly.
If you have an old report and are unsure what it covered, call the helpline. Someone will tell you whether it is worth bringing in.Commonly believed
Four things people believe about an old negative
It is closed only for the genes and methods that test covered. If the test was narrow, or the wrong person was tested, the question may still be open.
A negative for a known family fault does not age. A new test will not change it, and repeating it costs money without adding information.
Laboratories do not routinely re-read old negative tests, and they rarely contact families directly. It is usually the family who has to ask for a review.
That depends on what she was tested for, and when. If her test was narrow, or if new cancers have appeared on your father's side, the picture may have changed.
Questions we are asked
Common questions about repeating a negative test
How do I know which genes my old test covered?
The full laboratory report usually lists them, often in a methods section near the end. If you only have a letter or a summary, ask the hospital or laboratory for the complete report. A counsellor can read it with you and explain what was and was not checked.
Can the laboratory re-read my old sample?
Sometimes. Some laboratories keep data they can look at again with newer knowledge. Others keep no usable sample, and a fresh blood test is needed. Your counsellor will check with the laboratory before asking you for anything new.
My old test was done abroad. Can it be reviewed here?
Yes. Bring the full report, in whatever language it was issued. What matters is which genes were read and which methods were used, and that is usually written clearly enough for a counsellor to assess wherever the test was done.
The relative who had cancer has died. Can anything be done?
Often, yes. A stored tissue block from an old operation can sometimes be tested. If not, a well relative can have a wider test, with the understanding that a negative result is less conclusive than it would be for the person who had cancer.
Does repeating a test cost as much as the first one?
It depends on what is needed. Re-reading stored data may cost less than a new panel, and a new panel may cost less than old tests did. Ask for the price of each option, and check before assuming insurance or a government scheme will pay.
My old result was a variant of uncertain significance. Is that a negative?
No. It is an unanswered question, not a negative or a positive. It may have been reclassified since. Ask your counsellor to check its current status with the laboratory that reported it rather than looking it up yourself.
Should I keep screening while the review happens?
Yes. Any screening you have been advised on the basis of your family history should carry on. A review may change the plan later, but it should never be a reason to stop or delay a scan you were already due to have.
Where do I start?
Find the full report and write down every cancer in the family since, with rough ages, on both sides. Bring both to a genetic counsellor. Call the CION helpline if you are unsure who to see, and ask whether counselling in Telugu is available.
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
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
- Cancer Research UK — Inherited cancer genes and increased cancer risk
- MedlinePlus Genetics — What are the different types of genetic tests?
- NHS — Predictive genetic tests for cancer risk genes
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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Holding an old negative report and not sure what it covered?
Bring the full report and a list of cancers in the family. We will tell you honestly whether it needs revisiting, and arrange a review if it does. One helpline serves every CION centre.