Questions to Ask a Genetic Counselor
Questions to ask a genetic counselor, the clinician trained to explain what your family history and a genetic test can and cannot tell you. The 56 questions run in six groups: a short list to start with, then the test itself, the results, what they mean for relatives and children, cost and privacy, and what happens afterwards. They fit a visit prompted by a family history, a pregnancy, a diagnosis or a result you already hold. Each has a note on what a useful answer sounds like or what to ask next, and the guide below lists the questions a genetic counselor is likely to ask you. None of it is medical advice.
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The questions
Each question, and why to ask it
Start here
What happens during a genetic counseling session, and what will we cover today?
Why ask it
Many people arrive expecting a blood draw and find that most of a first visit is questions about their own health and their relatives'. Knowing the order of things up front tells you when to raise your own questions and whether any testing happens at this visit.
From the family history I have given you, does this look inherited, and which conditions are you thinking of?
Why ask it
Illness can cluster in a family through shared surroundings, habits or plain chance as well as through genes, and the pattern is what tells them apart. A counselor who names the specific conditions under consideration, and says which missing details would change the picture, has given you something to go and find out.
Do you think genetic testing makes sense for me, and what is your reasoning?
Why ask it
Not everyone who is referred ends up being offered a test, and some histories point more strongly to a relative being tested instead. Hearing the reasoning, not only the verdict, tells you what would have to change for the answer to be different.
Which test are you recommending, and what will it look at?
Why ask it
A single-gene test, a multi-gene panel and sequencing of the whole exome answer very different questions. Wider is not automatically better: the more genes are read, the more likely the report includes a finding nobody can interpret yet, so ask why this scope fits your history.
What are the possible results, including the unclear ones?
Why ask it
Most people prepare for positive or negative and are unsettled by the third kind, a variant of uncertain significance, which means a change was found and nobody yet knows whether it matters. Having that category described before the test makes it far easier to receive afterwards.
If the result is positive, what would change in my care?
Why ask it
Some results lead to earlier screening or a change in treatment; others change nothing that can be acted on. Knowing which applies helps you decide whether to test at all.
What are the benefits and the downsides of testing for someone in my position?
Why ask it
The downsides are seldom physical: an unclear result, worry that outlasts the appointment, strain between relatives, a question on an insurance form. If you hear only the benefits, ask what people in your position have come to regret.
What family history should I collect, and how far back does it need to go?
Why ask it
The estimate runs on details most people never think to gather: the exact diagnosis instead of 'cancer' or 'heart trouble', the age it was found, which side of the family, miscarriages, infant deaths and ancestry. Asking early, even by phone before the visit, buys you time to call relatives.
How is your role different from my doctor's, and who decides what?
Why ask it
A genetic counselor is trained to assess inherited risk, explain testing and help you weigh it, and in many clinics the screening or treatment that follows is run by someone else. It is worth leaving with three names: who orders the test, who signs off on the plan and who to call with which kind of question.
Do you specialize in the kind of question I have, such as cancer, pregnancy or heart conditions?
Why ask it
Genetic counselors tend to work in one area, and someone who sees inherited cancer all week may pass a pregnancy or a child's diagnosis to a colleague. Titles, certification and licensing differ by country and state, so if credentials matter to you, ask how it works there.
The test
What will this test not pick up?
Why ask it
A negative result is often read as an all clear. The gaps come in three kinds: genes that were not on the list, types of change the lab's method cannot see, and causes that are not inherited at all. Have the counselor say which of those apply to this test.
Would it be more informative to test an affected relative before testing me?
Why ask it
Testing the person who has the condition first often gives the clearest answer, because a variant found in them tells the lab exactly what to look for in everyone else. If that relative has died, is unwilling or cannot be reached, find out what a negative result in you alone would be worth.
A relative has already been tested. Would it help if I brought their report?
Why ask it
When the family's variant is already known, the lab can often look for that exact change instead of searching a whole panel, and a negative result then carries far more weight. Without the report the clinic may be guessing which gene and which lab were involved.
What kind of sample do you need, and can it be taken at this visit?
Why ask it
Blood, saliva and cheek swabs are all used, and which one depends on the test and the lab. Parts of your medical history, a past bone marrow transplant or a recent transfusion for instance, can change which sample is suitable, so mention them before the kit is opened.
Which laboratory is running this, and would another lab classify a variant differently?
Why ask it
Labs work from shared guidelines, yet classifying a variant still involves judgment, and two labs can label the same change differently. A counselor can check how other labs have filed it in the public databases, which is worth requesting for any result that is not a plain negative.
Are you employed by this clinic or by a testing company, and does that affect which lab you use?
Why ask it
Some counselors work for hospitals, some for telehealth services and some for the laboratories that sell the tests. None of those is a problem in itself, and a counselor who answers plainly is showing you how they handle a conflict of interest.
Could this test find something unrelated to why I came in, and can I decline to hear it?
Why ask it
Broader sequencing can turn up secondary findings, such as a risk for a different condition that nobody was looking for. The choice to hear them or not usually sits on the consent form, so it has to be made before the sample goes out, not when the report arrives.
How reliable is a result from this test, and would a positive be double-checked?
Why ask it
Accuracy has two parts: whether the lab read your DNA correctly, and whether the meaning given to what it found is settled. Ask whether a positive is confirmed by a second method before it is reported, then spend your time on the second part, which is where most of the doubt sits.
I already have a result from an at-home DNA kit. Does it need confirming before anyone acts on it?
Why ask it
Consumer kits may check only a few variants in a gene, and raw data files run through third-party tools are known to throw up false alarms. Bring the report along, and expect the counselor to want it repeated in a clinical lab before it changes your care.
Is this a screening test or a diagnostic test, and what is the difference for me?
Why ask it
A screening test estimates a chance and a diagnostic test looks for the condition itself, so a 'high chance' screen is not a diagnosis and a 'low chance' one is not a guarantee. In pregnancy the diagnostic tests involve a procedure with risks of its own. Get those spelled out before deciding whether a screen result is enough for you.
Do I have to decide about testing today, and does waiting cost me anything?
Why ask it
Usually there is no rush, and a counselor should be comfortable with you going home to think. The exceptions are worth hearing: a surgery date, a treatment choice or a pregnancy can put a real deadline on the decision.
If I choose not to test, what would you suggest I do instead?
Why ask it
Declining is a legitimate option that still comes with a plan, usually screening based on family history alone. Hearing that plan makes the choice a real one rather than a refusal.
Results
How long will the results take, and how will they be given to me?
Why ask it
Turnaround varies a great deal from one test to another, so get an estimate for this one. Then settle the how: a result that appears in a patient portal before anyone has called is a shock that can usually be prevented by arranging a phone call or a visit first.
If I do carry the variant, how likely is it that I actually develop the condition?
Why ask it
Carrying a variant and becoming ill are different things, and for some conditions a good share of carriers never do. If the counselor cannot give a range, ask what the estimate rests on and whether it was drawn from families like yours.
If my result is negative, does that mean my risk is average?
Why ask it
A negative test in a family with a striking pattern of disease is not a clean bill of health, and your history alone may still justify earlier or extra screening. This question separates a true negative from a test that simply found nothing.
What are my risk numbers as percentages, and are they lifetime figures or for the next few years?
Why ask it
'High risk' and 'elevated' are no use for a decision. Get your figure beside the one for the general population, and learn whether it covers a lifetime or the next five or ten years: the same risk sounds very different each way, and the nearer one is easier to plan around.
How much of my risk comes from this gene, and is there anything I can do to lower it?
Why ask it
Age, other health conditions, habits and plain chance all sit alongside a single gene. Which parts can be moved, whether by screening, medicine, surgery or daily habits, depends entirely on the condition, and for some the honest answer is that watching closely is all there is.
If the result is a variant of uncertain significance, what do we do in the meantime?
Why ask it
The usual answer is that care carries on as your family history alone would suggest, and that nobody acts on the variant itself. Ask what evidence would settle it, and whether testing a relative could help the lab decide.
If a variant is reclassified in a few years, who is responsible for telling me?
Why ask it
Labs do change their reading of a variant as evidence builds, and the news does not always reach the patient, especially once the clinician who ordered the test has moved on. If the checking falls to you, note the lab, the variant's exact name and a date to ask again.
Can you go through the written report with me and explain the terms in it?
Why ask it
Reports are written for clinicians, and words such as pathogenic, heterozygous and likely benign mean precise things. Other doctors will read this document for years, so it helps to know what it says before one of them summarizes it for you.
I already have the condition. Could a genetic result change my treatment or what you watch for next?
Why ask it
For some diagnoses a result steers the choice of drug, the kind of surgery or eligibility for a trial, and for others it mostly matters to relatives. If a treatment decision is coming, say when, since that sets how quickly the test has to come back.
Family
If something is found, which relatives would need to know, and how is that usually done?
Why ask it
A result in you says something about your parents, siblings and children, and less with each step further out. Many clinics will write a letter you can pass on, which saves you explaining genetics over a family dinner.
How is this condition inherited, and what is the chance I pass it to a child?
Why ask it
Dominant, recessive and X-linked conditions and brand new variants produce very different odds, and inheriting a variant is not the same as developing the condition. Ask for the chance of passing it on and the chance of becoming ill as two separate numbers.
Does it matter which side of my family the condition is on?
Why ask it
People often wave away a father's side for conditions seen mostly in women, or a mother's side for the reverse. For most inherited conditions either parent can pass a variant on, so let the counselor say whether both sides count equally here and whether the two histories are weighed separately or together.
I know little or nothing about my biological family. How does that change what you can do?
Why ask it
Adoption, donor conception, estrangement and small families all leave gaps, and counselors meet them often. Testing can still be offered on your own history or on general guidelines. The thing to pin down is what a result would and would not mean with no relatives to compare it against.
Could I be a carrier of something even though nobody in my family has had it?
Why ask it
Recessive conditions can pass quietly through generations of healthy carriers and appear only when two carriers have a child, so a clean family history does not rule one out. That is the reasoning behind carrier screening offered around pregnancy. Which conditions are on the list varies by clinic and country, so ask what theirs covers.
Should my partner be tested as well, and does it matter which of us goes first?
Why ask it
For recessive conditions the chance for a child depends on both parents, so one result on its own answers only half the question. Testing one of you first often shows whether the other needs testing at all, which saves money and waiting.
What are my options if a result affects a current or future pregnancy?
Why ask it
The choices narrow as a pregnancy goes on, which is why this belongs before the result and not after it. They can range from testing during pregnancy to testing embryos through IVF, using a donor, adopting or changing nothing, and what is offered and lawful depends on where you live.
Does a result here change anything for my children, and at what age would that start?
Why ask it
Where a condition starts in adulthood and nothing can be done about it in childhood, many clinics prefer to wait until the child is old enough to choose for themselves. Where screening or treatment begins young, the advice is different, so find out which kind this is before you assume a decision is due.
How and when should I talk to my children about this?
Why ask it
Counselors hear how these talks go in many families and can suggest words that suit a child's age. Raise it even if you plan to wait years, because children tend to notice the appointments and the worry long before anyone explains them.
What do I do about relatives who would not want to know, or whom I no longer speak to?
Why ask it
A relative's wish not to know pulls against their chance to act on a risk, and no neat rule settles it. Ask what the clinic can do with your permission, such as a letter that leaves your name out, and how confidentiality works where you live.
If my relatives want testing, where should they go and what should they bring?
Why ask it
The single most useful thing is a copy of your report naming the exact variant. Relatives in another region or country will need their own clinic, and some labs offer reduced-cost testing to family for a limited time after a positive result. The clinic will know whether yours does.
Could this testing reveal something unexpected about who is related to whom?
Why ask it
When several relatives are tested together, the lab can sometimes see that people are not related in the way everyone assumed. Clinics differ on whether they report this, so ask about the policy before any samples are sent.
Cost and privacy
What will this cost me, and what happens if the insurer declines it?
Why ask it
Prior authorization, out-of-network labs and denied claims can produce bills long after the appointment. Under a public health system the question becomes whether you meet the criteria for a funded test. Either way, get the realistic figure before you consent.
Is this appointment billed separately from the test, and is each one covered?
Why ask it
The counseling visit and the laboratory work are often two bills from two organizations, with different coverage rules for each. A lab's self-pay price or financial assistance program can turn out cheaper than a claim that is refused, so get that figure as well.
Who will be able to see this result, and does it go into my medical record?
Why ask it
A result filed in a shared record can be read by clinicians you see later, and a claim tells an insurer that a test was done even when it does not say what was found. Have the counselor walk through who gets a copy by default, and what changes if you pay for the test yourself.
Could these results affect my life, disability or long-term care insurance?
Why ask it
In the United States, the federal law known as GINA covers health insurance and most employment but not these three products, and state protections vary widely. Elsewhere the rules differ again, so ask how it works where you live. If you are thinking about new policies, the order in which you test and apply can matter.
Could a result affect my job, especially one with medical checks?
Why ask it
Employment protections for genetic information differ from country to country, and some occupations sit outside the general rule. Describe the work you do or hope to do, and ask how it is handled there before the result exists.
What happens to my sample and my data once the test is finished?
Why ask it
Storage, reanalysis and research use are usually consented to in the same paperwork as the test itself. This is the moment to separate what you agree to from what is bundled with it, and to find out whether you can withdraw later and have the sample destroyed.
Afterwards
What support is available if the result is difficult, and can I come back to talk it through?
Why ask it
Reactions often surface weeks later, once the appointment has ended. Establishing that a follow-up conversation is normal removes the sense of having used up your time.
Once the result is in, who takes over my care from here?
Why ask it
Counselors rarely run the long-term screening themselves, and results get lost in the handover to whoever does. Leave with a named clinic or specialist and a clear idea of who is making the referral.
Will I get a written summary of today, and will my doctor get one too?
Why ask it
A letter setting out the history taken, the options discussed and the plan is standard in many clinics but not automatic everywhere. It becomes the thing you hand to relatives and to new doctors, so check the family history in it for mistakes.
Are there patient groups, or other people with this result, I could talk to?
Why ask it
For rarer conditions a patient organization may know more about daily life with it than any one clinic does. Counselors usually know which groups are sound, which matters because quality varies and some are run by companies with something to sell.
Are there research studies or registries I could join, and what would taking part involve?
Why ask it
A registry can be the route by which you hear about new findings on your variant, and some studies offer testing or screening you would not otherwise get. Two things to settle first: what is expected of you, and whether you can leave without it affecting your care.
Is this a test I take once, or might it be worth repeating in a few years?
Why ask it
Your DNA stays the same, but the list of genes a lab examines and what is understood about them keeps growing. A negative from an older, narrower test is the usual reason to look again, so write down exactly which genes were covered this time.
What changes in my health or my family should prompt me to contact you again?
Why ask it
A new diagnosis in a relative, a planned pregnancy or a relative's test result can each shift the advice you were given. Getting the list now means you will recognize the moment when it comes, instead of assuming the file is closed.
Preparing for a genetic counseling appointment
Practical guidance for the conversation itself
Before the appointment
Collect the family history you can verify
Who was affected, what they were diagnosed with, and their age at diagnosis. Age matters as much as the diagnosis itself. Where you are unsure, say so rather than guessing, since an inaccurate history changes the risk estimate.
Decide what you want to do with the answer
Counselors work differently depending on whether you are weighing screening, a pregnancy decision, or information for relatives. Saying which one you are there for at the start focuses the whole appointment.
Bring someone, or bring a recorder
These appointments carry a lot of detail and numbers. Many clinics will allow a recording if you ask first, and a second person notices what you missed.
Write your questions down
It is common to leave having asked none of them. A short written list, ordered so the most important is first, is enough.
Ask relatives for their reports
If anyone in the family has already had genetic testing, a copy of the laboratory report is worth more than their memory of it. It names the gene, the exact variant and the lab, which can turn a broad search into a single targeted check.
Pick from the list, do not read it out
Nobody gets through every question in one session. The Start here group is the short version for a first visit. Add the few from the other groups that fit your reason for coming, and keep the rest for the results appointment.
What a genetic counselor asks you
Expect to answer as much as you ask
A large part of a first session is the counselor asking about you. None of it is a test of your knowledge, and 'I don't know' is a useful answer because it shows where the history has gaps.
Questions a genetic counselor is likely to ask
- What brought you here, and what are you hoping to find out?
- What conditions, operations or major illnesses have you had, and at what ages?
- Who in your family has had the condition in question, on which side, and how old were they when it was found?
- Are your parents, siblings, grandparents, aunts, uncles and cousins living, and if not, what did they die of and at what age?
- Have there been miscarriages, stillbirths, infant deaths or children with health or developmental problems in the family?
- Where did each side of your family come from? Some conditions are more common in particular populations.
- Are any couples in the family related to each other by blood, such as cousins?
- Has anyone in the family already had genetic testing, and do you know the result?
- How do you think you would feel about a positive, a negative or an unclear result, and what would you do with each?
- Who would you want to share a result with, and is there anyone you would not?
Why the answers matter
The counselor draws these answers into a family tree, usually across three generations, and the pattern in it decides which test, if any, is worth offering. Ages at diagnosis and the side of the family do most of the work, so those are the details to chase before you go.
After the appointment
- Before you leave, say the main points back in your own words and let the counselor correct them
- Ask for the summary letter, and check it matches what you understood
- Give yourself time before making decisions that are not time-limited
- Send the result to whoever manages your ongoing care, since the counselor may not
- Note down which relatives were mentioned, and who has agreed to tell whom
- If a variant was reported as uncertain, ask when it would be worth reviewing again
- Keep a copy of the report yourself, as records move between systems poorly