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The test itself is a blood or saliva sample and takes two minutes. Everything that makes it useful happens either side of it — and one thing worth knowing upfront: a consumer home DNA kit is not a BRCA test.
A BRCA test reads the DNA sequence of the BRCA1 and BRCA2 genes from a blood or saliva sample and compares it with the expected sequence. Where it finds a difference, the question becomes whether that particular difference matters — whether it disrupts how the gene works, or whether it is one of the many harmless variations that exist between individuals.
Two things about how a proper test is done are worth knowing, because they explain why not all tests are equal. First, it sequences the full coding region of each gene rather than checking a handful of known changes. Second, it separately looks for large deletions and duplications — chunks of gene missing or repeated — which sequencing alone can miss and which account for a meaningful proportion of variants.
Increasingly the test is not BRCA1 and BRCA2 alone but a multi-gene panel. Several other genes raise ovarian cancer risk — RAD51C, RAD51D and BRIP1 among them, alongside the Lynch syndrome genes — and testing them in the same pass costs little extra and avoids a second round months later. If you are being tested now, it is reasonable to ask what the panel covers.
The whole coding region is read, not a handful of specific known changes. This is the core of a proper test.
Large missing or repeated chunks are found separately, and they account for a meaningful share of variants.
RAD51C, RAD51D, BRIP1 and the Lynch genes tested in the same pass. Ask what yours covers.
A consumer home DNA kit is not a BRCA test, and this catches people out badly. Such kits typically check a small number of specific known variants — often the three founder variants common in Ashkenazi Jewish populations — rather than sequencing the genes. That means a “negative” result from a home kit does not exclude a BRCA variant at all: the great majority of pathogenic variants are simply not among the handful tested. Women have been falsely reassured by exactly this. If a home kit result matters to you, treat it as no result and seek proper diagnostic testing. Source: published analyses of direct-to-consumer genetic testing coverage.
The whole process usually takes a few weeks, and most of it happens without you being involved.
A three-generation family history from both sides, an assessment of whether testing is warranted, and a discussion of what each possible result would mean for you and your relatives. This is not a formality — it is what makes the result usable, and it happens before any sample is taken. See genetic counselling.
A blood sample or, in some settings, saliva. It takes a couple of minutes, needs no fasting or preparation, and can be taken at any time. This is genuinely the easiest part of the whole process and is not what people find difficult.
DNA is extracted and the relevant genes sequenced, with separate analysis for large deletions and duplications. Every difference found from the expected sequence is then classified against databases of known variants and established criteria. This classification step is where the real work sits.
Typically a few weeks, though it varies by laboratory and panel size. This period is harder than most people expect, and it is worth knowing that in advance. If waiting is difficult, say so — some services can flag a result for early contact rather than sending it by post.
The result is explained in the context of your family history rather than handed over as a document. Where a variant is found, this is where surveillance, the timing of risk-reducing surgery, breast risk management and reproductive considerations are turned into an actual plan.
Ask for the complete laboratory report, not a summary letter. It names the gene, the specific variant in technical notation, and the classification. That document is what relatives' cascade testing targets, and it is what any future clinician will want to see. See cascade testing.
Most people expect two. The third causes the most confusion and is managed in a way that surprises people.
| Result | What it means | What follows |
|---|---|---|
| Pathogenic (or likely pathogenic) variant | A definite finding that impairs how the gene works. | Risk management plan: surveillance, risk-reducing surgery discussion, cascade testing of relatives. |
| No variant found | Nothing pathogenic detected among the genes tested. | Reassuring — but with a strong family history, management continues on the pedigree rather than the test. |
| Variant of uncertain significance | A difference was found; its effect is not yet known. | Managed as though nothing was found. Decisions rest on family history. Most are later reclassified as benign. |
| True negative (cascade) | Tested for a known family variant and did not inherit it. | Return to population risk. Enhanced surveillance can stop. Your branch closes. |
*A variant of uncertain significance is genuinely uncertain, not a hedged positive. Relatives are not tested for it and management is not changed on the basis of it.
All reasonable, and several of them are rarely answered unless asked.
BRCA1 and BRCA2 alone, or a wider panel including RAD51C, RAD51D, BRIP1 and the Lynch genes?
Sequencing alone misses large missing or repeated segments, which account for a meaningful share of variants.
In person, by phone, or by post? Ask for a conversation rather than a letter, particularly if waiting is hard.
Not a summary. It names the specific variant, which is what relatives' testing targets.
Testing an affected relative first is often more informative and is frequently never offered.
This varies by country and insurer. Ask before testing rather than afterwards — that is what pre-test counselling is for.
If you were tested some years ago on BRCA1 and BRCA2 alone and have a strong family history, an updated multi-gene panel may now be worth discussing.
Ordering a genetic test is trivial. Knowing what to do with a variant of uncertain significance, or with a negative result in a striking family, is where the value sits.
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No referral needed and no cost for the first consultation. Genetic counselling and BRCA and HRD testing are delivered in-house at CION.
Ordering a genetic test is easy, and that is precisely the problem with how it is often done. The difficulty is not obtaining a result — it is knowing what to do with a variant of uncertain significance, or with a negative result in a family whose pattern is striking, or with a positive result that now needs explaining to a dozen relatives.
Genetic counselling and BRCA and HRD testing are delivered in-house at CION, which means the pre-test conversation, the sample, the interpretation and the plan afterwards all happen with the same team rather than across three referrals with the thread lost between them. Your first consultation is free and runs to about 45 minutes.
If you have already been tested elsewhere, bring the full laboratory report rather than a summary letter — it names the gene, the specific variant and its classification, and a surprising number of people know they carry "a BRCA mutation" without knowing which of those things is actually true. Where cancer does develop, medical oncology is delivered in-house across 35+ centres; risk-reducing and gynaecologic-oncology surgery is coordinated with specialist partner centres and may be billed there.
The pre-test conversation, the sample, the interpretation and the plan, all with one team.
Not a summary letter. Which gene, which variant, and its classification all determine what happens next.
Free and unhurried. Long enough to take a proper family history and explain what a result would mean.
Risk-reducing salpingo-oophorectomy is performed at specialist partner centres and may be billed there.
This result causes more distress than it should, largely because the name sounds like a hedged positive. It is not. A variant of uncertain significance means the laboratory found a difference from the expected sequence and there is not yet enough evidence to say whether it affects how the gene works.
The practical handling is counterintuitive and worth stating plainly: it is managed as though nothing had been found. Decisions about surveillance and risk-reducing surgery rest on your family history alone. Relatives are not tested for it, because a result that means nothing in you would mean nothing in them either. Nothing changes on the basis of the variant itself.
Over time, as more people are tested and more data accumulates, these variants get reclassified — and the large majority are eventually reclassified as benign. Reclassification does happen in the other direction occasionally, which is one practical reason to stay connected to a genetics service: if yours were reclassified, you would want to be told, and there is no automatic mechanism that does it.
It means genuinely unknown, not probably bad. The name misleads more than it informs.
Decisions rest on family history alone. Relatives are not tested for it.
As data accumulates, the large majority of uncertain variants are eventually reclassified as harmless.
Reclassification is not automatically notified. Remaining connected is how you would find out.
The sample itself is a blood test, or in some settings saliva, taking a couple of minutes with no preparation or fasting needed. The laboratory then extracts DNA and sequences the full coding regions of BRCA1 and BRCA2, and separately checks for large deletions and duplications that sequencing alone can miss. Increasingly the test is a multi-gene panel covering other ovarian cancer risk genes such as RAD51C, RAD51D and BRIP1 alongside the Lynch syndrome genes. Results usually take a few weeks. The genetic counselling before and after the sample is what makes the result usable.
No, and this is important because people have been falsely reassured by exactly this. Consumer home DNA kits typically check a small number of specific known variants — often the three founder variants common in Ashkenazi Jewish populations — rather than sequencing the genes. The great majority of pathogenic BRCA variants are simply not among those tested, so a negative result from a home kit does not exclude a BRCA variant at all. If hereditary risk matters to you, treat a home kit result as no result and seek proper diagnostic testing through a genetics service.
Typically a few weeks, though it varies with the laboratory and how many genes are on the panel. That waiting period is consistently harder than people expect, and it is worth knowing in advance rather than being surprised by it. If waiting is likely to be difficult for you, say so when the test is arranged — many services can flag a result for a phone call or an appointment rather than sending it by post, and knowing when and how you will hear removes a good deal of the uncertainty.
Three, and they are managed quite differently. A pathogenic or likely pathogenic variant is a definite finding with clear implications for your risk management and for your relatives. No variant found is reassuring, though with a strong family history management continues on the pedigree rather than the test, since the responsible gene may not have been on the panel. A variant of uncertain significance means a difference was found whose effect is unknown; it is managed as though nothing had been found, and most are eventually reclassified as benign.
In practice, nothing changes because of it. The name sounds like a hedged positive but it genuinely means unknown: the laboratory found a difference from the expected sequence and there is not yet enough evidence to say whether it affects gene function. Decisions about surveillance and risk-reducing surgery rest on your family history alone, and relatives are not tested for it, because a result that means nothing in you would mean nothing in them. Over time most such variants are reclassified as benign. Staying connected to a genetics service is how you would learn if yours were reclassified.
Where a living relative who actually had ovarian or breast cancer can be tested, that is usually more informative and it is frequently never offered. She is the person in whom a causative variant would be expected to appear, so if a variant is found in her, testing you for that specific change becomes quick, inexpensive and definitive — and if her test is negative, your own negative result carries far more weight than it otherwise would. It is worth asking about explicitly, because it can save the whole family a round of less informative testing.
Yes — genetic counselling and BRCA and HRD testing are delivered in-house at CION, so the pre-test conversation, the sample, the interpretation and the plan afterwards all happen with the same team rather than across several referrals. The first consultation is free and runs to about 45 minutes. If you have been tested elsewhere, bring the full laboratory report rather than a summary letter. Medical oncology is delivered in-house across more than 35 centres; risk-reducing and gynaecologic-oncology surgery is coordinated with specialist partner centres and may be billed there.