Questions to Ask Before Genetic Testing
For anyone heading into a genetic counseling appointment about hereditary cancer risk, pregnancy planning, or a diagnosis in the family. These 20 questions get you clear answers on what a test can find, what results mean, and what to do next.
20 questions · each with the reason to ask it · conversation guide
The questions
Open any question to see why it works
- 01
What happens during a genetic counseling session, and what will we cover today?
Why ask it
Many people arrive expecting a blood draw and instead get an hour of history taking and risk discussion. Knowing the structure up front tells you when to raise your own questions and whether any testing happens at this visit.
- 02
Why was I referred to you, and what specific question are we trying to answer?
Why ask it
Referrals arrive from oncologists, OBs, and primary care with almost no explanation attached. The counselor can name the trigger, whether a relative's diagnosis, an ultrasound finding, or a carrier screen, and that framing shapes every decision that follows.
- 03
What family history should I collect, and how far back does it need to go?
Why ask it
Risk models run on details most people never think to gather: age at each diagnosis, which side of the family, specific cancer types, miscarriages, infant deaths, and ancestry. Asking early buys you time to make phone calls before testing is ordered.
- 04
Looking at my personal and family history, which conditions concern you the most?
Why ask it
This surfaces the counselor's actual working hypothesis rather than a generic list of possibilities. It also tells you whether your history is strong enough to meet testing criteria, which drives insurance coverage.
- 05
Which genetic test do you recommend for me, and why that one rather than a broader or narrower panel?
Why ask it
Panels range from one gene to several hundred, and bigger is not automatically better: wide panels return far more uncertain results and more genes with no agreed management plan. The reasoning behind the choice matters more than the gene count.
- 06
What will this test not detect?
Why ask it
No panel is complete. Depending on the method, a test can miss large deletions and duplications, repeat expansions, mosaicism, and changes outside the coding regions, and no test covers risk genes not yet discovered. Knowing the blind spots stops a normal result from being oversold.
- 07
How does the testing work in practice: what sample is needed, how long do results take, and how will I hear them?
Why ask it
Blood, saliva, or cheek swab; two weeks or eight; a phone call or a portal message with no interpretation attached. Pinning this down avoids the anxious limbo of not knowing whether silence means nothing was found.
- 08
What will this cost me out of pocket, and what will my insurance actually cover?
Why ask it
Coverage usually hinges on meeting written criteria, and lab self pay prices are often far below the billed amount. Ask about prior authorization, the lab's patient assistance program, and whether you get a cost estimate before the sample ships.
- 09
Could these results affect my life, disability, or long term care insurance?
Why ask it
The federal GINA law bars genetic discrimination in health insurance and employment but does not cover those three products, and state protections vary widely. If you are thinking about new policies, the order in which you test and apply can matter.
- 10
What are the possible results, and what does each one mean for my care?
Why ask it
There are more than two outcomes: pathogenic, likely pathogenic, uncertain, likely benign, benign, and sometimes carrier status for something unrelated. Walking through them before you test means no result blindsides you later.
- 11
What happens if I get a variant of uncertain significance?
Why ask it
Uncertain results are common, especially on broad panels and for people of non European ancestry, and guidelines say a VUS should not drive surgery or major screening changes. Ask what your care should look like while the variant sits unresolved, because it needs to follow your family history rather than the letter on the report.
- 12
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.
- 13
Will the lab report findings unrelated to why I am testing, and do I get to choose what I am told?
Why ask it
Exome and genome sequencing can turn up secondary findings such as cardiac or metabolic risks, and some labs also report carrier status. Consent forms often let you opt in or out, and that is a choice worth making deliberately rather than at the signature line.
- 14
What are my actual risk numbers, as percentages, with and without this result?
Why ask it
Phrases like high risk or elevated risk are unusable for decisions. Concrete figures, lifetime risk against general population risk plus risk by a given age, are what let you weigh screening against surgery or watchful waiting.
- 15
If we find something, how would my screening, medication, or surgical options change, and at what age would each start?
Why ask it
This is the question that converts information into action. Some findings put you on annual MRI in your thirties, some add a medication, some change nothing at all, and knowing which applies tells you whether testing is worth doing now.
- 16
How is this condition inherited, and what is the chance I pass it to a child?
Why ask it
Autosomal dominant, recessive, X linked, and new spontaneous variants produce very different odds, and penetrance means inheriting a variant is not the same as developing the condition. Ask for the inheritance chance and the disease chance as two separate numbers.
- 17
If I am a carrier, what reproductive options do I have?
Why ask it
The realistic menu includes testing a partner first, IVF with preimplantation genetic testing, prenatal diagnosis by CVS or amniocentesis, donor egg or sperm, and adoption. Push past the list to timing, cost, and success rates for each.
- 18
Which relatives should know about my results, and can you help me work out how to tell them?
Why ask it
A finding in you is actionable news for siblings, children, parents, and sometimes cousins, but the counselor cannot contact them on your behalf. Many will draft a family letter naming the gene, the variant, and the lab so relatives can hand it to their own doctor.
- 19
What happens to my sample and my genetic data after testing, and who else can access them?
Why ask it
Labs differ on how long samples are stored, whether data is shared with research or variant databases, and whether you can request destruction or withdrawal. Consumer testing companies operate under very different policies from clinical labs.
- 20
If my results are inconclusive, will they ever be reinterpreted, and whose job is it to contact me?
Why ask it
Variant classifications shift as evidence accumulates, but recontact depends on current records and someone owning the task. Leave with a name, a realistic timeframe for reanalysis, and your own reminder to check back in a few years.
Getting the Most From a Genetic Counseling Appointment
Practical guidance for the conversation itself
Do This Before the Appointment
Do This Before the Appointment
Map Three Generations
Sketch parents, siblings, children, aunts, uncles, grandparents, and first cousins. For everyone with a serious diagnosis, write the exact condition, the age it started, and whether they are on your mother's or father's side. Which side matters as much as the diagnosis.
Chase Down One Real Document
A pathology report, a prior genetic test result, or a death certificate from an affected relative outweighs a dozen remembered details. If a relative already tested positive, get their report with the exact gene and variant, because that lets the lab test you for one specific change at much lower cost.
Decide What You Would Do With Each Answer
Before testing, work out whether a positive result would change your screening, your surgical decisions, or your family planning. Bring that answer with you, because it is the main thing that determines which test is right for you.
Bring a Second Set of Ears
Risk percentages and inheritance patterns are hard to retain in an emotional appointment. Bring someone with you, or ask whether you may record the session so you can revisit the numbers at home.
Terms Worth Knowing Before You Walk In
Terms Worth Knowing Before You Walk In
- Pathogenic variant: a change known to cause or raise the risk of disease. Likely pathogenic is handled the same way clinically.
- Variant of uncertain significance (VUS): a change with too little evidence to call either way. Should not drive surgery or major screening changes.
- Carrier: you have one copy of a recessive variant. Usually no effect on your own health, but it matters if a partner carries the same one.
- Penetrance: the share of people with a variant who actually develop the condition. Rarely one hundred percent.
- Uninformative negative: nothing was found, but the family pattern is still suspicious, so your history keeps guiding your care.
- Cascade testing: targeted testing of relatives for the single variant found in you, which is cheaper and faster than a full panel.
- PGT-M: preimplantation genetic testing during IVF that screens embryos for a specific known variant.
- GINA: the federal law barring genetic discrimination in health insurance and employment. It does not cover life, disability, or long term care insurance.
What Wastes the Appointment
What Wastes the Appointment
Assuming Bigger Panels Are Better
Testing a hundred genes instead of ten mostly raises your odds of an uncertain result and of findings in genes with no agreed management plan. Ask what each additional gene would actually change about your care.
Treating a VUS as a Diagnosis
People have had healthy organs removed over variants later reclassified as benign. Until a variant is upgraded, decisions should rest on family history and standard guidelines, not on the letter in the report.
Bringing a Consumer Test Report as Proof
Direct to consumer health and ancestry kits check a small selection of variants and are not built for clinical decisions. Anything found in raw data needs confirmation in a clinical lab before anyone acts on it.
Leaving Without the Family Conversation Planned
Results that stay with you help nobody else. If you do not settle on who to tell and roughly what to say before you leave, the notification usually never happens.
What to Leave With
What to Leave With
- A copy of your pedigree, so you never rebuild the family history from scratch again.
- The full lab report, including gene name, exact variant notation, and the lab that ran the test.
- Your risk figures in writing, with the general population comparison alongside them.
- A screening and management plan with ages, intervals, and who orders each item.
- A family letter you can forward to relatives, plus the counselor's contact details for their questions.
- A clear answer on cost, prior authorization status, and what you will be billed.
- A follow up plan: who calls you, when, and what would prompt a reanalysis of your results.