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CION Cancer Clinics
Testing your family after a POLE or POLD1 result | CION Cancer Clinics
Once a POLE or POLD1 fault is found, each parent, brother, sister and child of the carrier has a one in two chance of carrying it too. They are tested only for that exact fault, with a simple blood test. This page explains who to test first, what happens at each step, and what a positive or negative result changes for them. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
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Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
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On this page
- Which relatives should be tested once a POLE or POLD1 fault is found?
- Who in the family should be offered a test, and in what order?
- What happens when a relative decides to be tested?
- The words you will meet, in plain language
- What a relative's result changes
- What this page cannot tell you
- Four things families tell us, and what is actually true
- Common questions about testing the family for POLE and POLD1
The short answer
Which relatives should be tested once a POLE or POLD1 fault is found?
Start with the carrier's parents, brothers, sisters and adult children. Each of them has a one in two chance of carrying the same fault. They are tested only for that exact fault, with a simple blood test, which gives a clearer answer than the first test in the family did.
Why the chance is one in two
POLE and POLD1 faults are dominant. One faulty copy is enough to raise risk, and a parent passes on one of their two copies at random to each child. The chance is the same for sons and daughters, and it does not change with birth order or with how many brothers and sisters have already tested positive.
Why testing relatives is worth the effort
A relative who carries the fault can start colonoscopy in early adult life and have polyps removed before they become a cancer. A relative who does not carry it can stop worrying and follow routine screening for their age. Both outcomes change real decisions, which is why this step matters as much as the first test did.
The first person in a family to be tested opens the door. Everyone after them walks through a much shorter and cheaper test.Who comes first
Who in the family should be offered a test, and in what order?
Testing moves outwards from the carrier, one branch at a time. Each new positive result opens the next circle of relatives.
Parents
Testing both parents, where they are alive and willing, shows which side of the family the fault came from. That tells you which aunts, uncles and cousins need to hear about it.
If neither parent carries it, the fault may be new in the carrier.Brothers and sisters
Each has a one in two chance, whatever their age and whether or not they have had polyps. They are usually the most urgent group, because many are already old enough to need a colonoscopy.
Children
Each child has a one in two chance. Testing is usually offered in the late teens, close to the age when colonoscopy would begin, so the young person can take part in the decision.
The wider family
Once the carrying side is known, the relevant aunts, uncles and cousins can be offered testing. Relatives on the other side need nothing.
Usually not needed
- A husband or wife, who is not a blood relative
- Children of a relative who tested negative
- The family on the side the fault did not come from
Not sure whether this applies to you?
Ask an oncologistStep by step
What happens when a relative decides to be tested?
The carrier's report is checked
Family testing only makes sense for a fault classed as pathogenic or likely pathogenic. A variant of uncertain significance is not used to test relatives, because a result either way would mean nothing.
Relatives are told
Your counsellor can give you a family letter that explains the fault in plain words. You decide who to share it with and when. Many families find it easier to pass the letter on than to explain it themselves.
Each relative has their own counselling
Before the blood sample, each relative talks through what a positive or negative result would mean for them. This matters most for anyone who is planning marriage, a family or insurance cover.
The test looks for one fault only
The laboratory checks the relative for the exact fault already found in the family. This is simpler and usually cheaper than the original test, and the result is a clear yes or no.
Results come with a plan
A relative who tests positive is referred for colonoscopy. A relative who tests negative is told plainly that routine screening applies.
On your letter
The words you will meet, in plain language
- Cascade testing
- Testing relatives one circle at a time, starting nearest the carrier and moving outwards as each positive result is found.
- Predictive test
- A test in someone who is well, to see whether they carry a fault already known in the family.
- First-degree relative
- A parent, brother, sister or child. These are the people who share half of your genes.
- Dominant
- One faulty copy is enough to raise risk. It is why the chance is one in two for each child.
- De novo
- A fault that appeared for the first time in one person, with neither parent carrying it. Their children can still inherit it.
- Uninformative result
- A negative result in someone tested before the family's fault is known. It cannot rule anything out, which is why the carrier is tested first.
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Side by side
What a relative's result changes
Tests positive
Tests negative
Colonoscopy starts in early adult life
Routine bowel screening for age applies
Their own children are offered testing
Their children need no test for this fault
Women with POLD1 plan for the womb
No extra womb checks are needed
Upper endoscopy may be added
No extra gut checks beyond routine
Being straight with you
What this page cannot tell you
It cannot tell you which of your relatives carries the fault. Only a test can, and only once the fault in your family is known. It also cannot tell you how to break the news. Every family is different, and a counsellor can help you plan who to tell first.
It cannot tell you what your variant means
Only faults in the proofreading part of POLE and POLD1 are known to cause polyposis. What your specific variant means is a question for the counsellor who ordered the test, not for a search engine.
Who this does not apply to
Most people do not need this test. If nobody in your family has been found to carry a POLE or POLD1 fault, testing well relatives for it is not useful. A husband or wife, and relatives who have already tested negative, do not need it either.
The things families in India worry about
Many families worry about what a result means for a marriage proposal. India has no dedicated law protecting people from genetic discrimination, so raise insurance and disclosure questions before testing, not after. A result belongs to the person tested, and each relative decides whether to know.
Commonly believed
Four things families tell us, and what is actually true
"My brother tested negative, so I must be negative too."
Each brother and sister has their own one in two chance. One negative result says nothing about the next person. Every relative at risk needs their own test.
"I feel perfectly well, so I do not need to know."
Bowel polyps rarely cause symptoms. Carriers who feel well are exactly the people who gain most from starting colonoscopy early. Choosing not to test is your right, but feeling well is not a reason on its own.
"The fault came through the women, so the men are safe."
A father passes on POLE and POLD1 faults exactly as often as a mother does. Sons carry the same bowel risk as daughters, and both can pass the fault on.
"We should test all the children now, while they are small."
The bowel checks this result would trigger do not start in early childhood. Waiting until the late teens lets the young person understand and share the decision, with nothing lost in the meantime.
Questions we are asked
Common questions about testing the family for POLE and POLD1
Can my relatives be tested in another city?
Yes. The laboratory needs a copy of the carrier's report naming the exact fault, and a blood or saliva sample from the relative. Many laboratories can arrange collection elsewhere. Pre-test counselling can also be done by video if travel is difficult.
What if a relative refuses to be tested?
That is their right. They can still be offered colonoscopy based on the family history, as if they might carry the fault. Give them the family letter, leave the door open and let them come back to it when they are ready.
Neither of my parents carries the fault. What does that mean?
The fault may have arisen for the first time in you. Your brothers and sisters are then very unlikely to carry it, although a counsellor may still suggest testing them. Your own children still have a one in two chance.
Does a relative who already had bowel cancer need the test?
Often, yes. Knowing whether their cancer was linked to the family fault affects their own follow-up and tells their children whether they are at risk. A stored tissue block can sometimes be tested if the relative has died.
Is the relative's test cheaper than mine was?
Usually. Looking for one known fault is a smaller job than reading a whole gene panel. Prices vary between laboratories, so ask for a quote for a known familial variant test. Aarogyasri and insurance coverage for well relatives varies by scheme.
Should a relative tell their future spouse's family?
That is a personal decision, and families in India handle it very differently. A counsellor can help a young carrier think through what to share, when, and how to explain that the risk can be managed with regular checks.
Do I need to tell my relatives myself?
Doctors cannot contact your relatives without your agreement, so the family letter usually travels through you. If a conversation feels too hard, ask your counsellor for help with wording, or bring the relative along to a session.
Can a pregnancy be tested for the fault?
Testing during pregnancy, or embryo testing alongside IVF, is technically possible for a known fault. It raises personal, ethical and legal questions in India that need careful discussion. Ask for a separate appointment before starting a pregnancy if this matters to you.
Your Specialists
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.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
Medical Oncologist
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Sources
- National Cancer Institute — Genetics of Colorectal Cancer (PDQ)
- MedlinePlus Genetics — POLD1 gene
- MedlinePlus Genetics — What are the different ways a genetic condition can be inherited?
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
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.
Keep reading
Related pages
Surveillance for POLE and POLD1 carriersWhat a relative who tests positive does nextPOLE and POLD1: which cancers and what riskWhy the family result mattersThe POLE and POLD1 genes explainedWhat these proofreading genes actually doPOLE and POLD1 positive: what happens nextThe first months after a positive result
Talk to us
Not sure how to tell your family?
Bring your report and a rough family tree, and a counsellor will help you plan who to test first and how to explain it. One helpline serves every CION centre.