Questions to Ask About Genetics
Questions to ask a doctor or genetic counselor before agreeing to a genetic test: what the test can answer, what an uncertain result would mean, who else in the family it affects, what it costs, and where the result is kept. Also useful if a consumer test has already returned something worrying.
The questions
Open any question for the note
What question are we trying to answer with this test?
Why ask it
Testing without a question produces results nobody knows how to act on. General interest is a legitimate reason, but it should be chosen deliberately rather than arrived at by default.
Which test is this, and does it read whole genes or only selected variants?
Why ask it
Panels vary widely. A test covering a handful of common variants can miss a mutation running in your family entirely, which is why a negative from a limited panel is often not reassurance.
Is this a clinical test or a consumer one, and what difference does that make here?
Why ask it
Consumer tests are not built for diagnosis and often report unconfirmed variants. A result being used for a medical decision generally has to be repeated in a clinical laboratory first.
What results are possible, and what would each one mean for me?
Why ask it
Positive, negative, and uncertain are all realistic outcomes, and the third is the one people are least prepared for. Work through all three before you know which one you have.
What would we do differently depending on the result?
Why ask it
This is the question that decides whether testing is worth doing now. If nothing about your care would change, the result is information alone, which is a fair thing to want and a fair thing to decline.
How often does this test come back uncertain, and what happens then?
Why ask it
Variants of uncertain significance are common, especially for people whose ancestry is underrepresented in reference databases. Ask whether they get reclassified later and who would contact you if so.
Could this find something unrelated, and do I have to be told?
Why ask it
Broad sequencing can reveal risks nobody was looking for, including conditions with no treatment available. Laboratory policies differ, and you may be able to state in advance what you want reported.
Who else in my family would this result affect?
Why ask it
A result about you is partly a result about your siblings, parents, and children. Decide beforehand what you would tell them, because relatives tend to find out either way.
Would testing a relative give a clearer answer than testing me?
Why ask it
Testing the affected person in a family is often far more informative and can spare everyone else an ambiguous result. It is worth asking whether the right person is being tested.
What would this mean for my children, and when would testing them be appropriate?
Why ask it
Predictive testing in childhood is usually reserved for conditions where something can be done before adulthood. Expect a careful answer, and treat an unhesitating yes as grounds for a second opinion.
If the result is positive, what screening or treatment changes, and starting when?
Why ask it
The practical value of a positive result is usually earlier or more frequent surveillance, sometimes preventive treatment. Ask for specifics: which test, how often, from what age, and who arranges it.
If the result is negative, what does that actually rule out?
Why ask it
A negative on a targeted test rules out only what was tested for. Where family history is strong, your risk can remain raised for reasons no current test explains.
Given my family history, what is my risk regardless of the result?
Why ask it
Family history is a strong predictor on its own and often determines eligibility for screening programs. Write yours down accurately before the appointment, including ages at diagnosis.
Who will see this result, and where will it be stored?
Why ask it
Results generally enter your medical record and may be visible to other clinicians. Ask specifically whether the laboratory keeps your sample or contributes data to research, and whether you can decline that.
Could this affect life, disability, or long-term care insurance?
Why ask it
Protections vary by country and by product, and health coverage is sometimes protected while life and disability cover are not. Ask before testing, since afterwards there is a result you may have to disclose.
What will this cost me, and what does my insurer require first?
Why ask it
Prior authorization and documented family history are common conditions, and a denied claim after the test has been run is a frequent outcome. Ask for the estimate and the requirements in writing.
How long will the result take, and who will go through it with me?
Why ask it
Several weeks is normal. Receiving a result by letter with no explanation is not, so establish who telephones you and whether a follow-up appointment is already in the diary.
Can I speak to a genetic counselor before I decide?
Why ask it
Counselors spend a whole appointment on precisely these questions, which a routine consultation cannot accommodate. Availability varies, but asking often uncovers an option nobody mentioned.
I already did a consumer test. Does that result need confirming?
Why ask it
Consumer reports produce alarm regularly, and false positives in that setting are well documented. Confirming in a clinical laboratory before acting on anything is standard practice.
What happens if I decide not to test?
Why ask it
Declining is a real option. Knowing what follows instead, usually screening based on family history, makes it an informed choice rather than avoidance.
How to use these questions
Practical guidance for the conversation itself
Before the appointment
Draw the family tree first
Three generations if you can, with who had what and at what age. Ages at diagnosis matter as much as the diagnoses, and this single page changes what a clinician can offer more than any other preparation.
Decide what you would rather not know
Some people want every finding, others only what is actionable. Deciding in advance is easier than deciding once a result is sitting in a file, and some laboratories can honor the preference.
Sort out insurance questions before testing
Whatever protections apply where you live, applications for life or disability cover ask about tests you have had. If either is on your horizon, get advice on sequencing before the sample is taken.
Bring someone with you
Genetic consultations move quickly through probabilities and unfamiliar terms. A second listener catches what you miss and can ask the question you had planned but did not use.
Telling relatives
Work out who needs to know and in what order
A result relevant to a sibling's screening is more urgent than one relevant to a distant cousin. Ask your counselor for a letter written for relatives, since many services provide one on request.
Expect different reactions to the same result
One sibling will want testing immediately and another will not want the subject raised. Both are reasonable, and pressing the second rarely changes anything except the relationship.
Be careful with results that are not yours to share
A test on one relative can reveal information about others, including parentage nobody expected. Think through the implications before circulating anything to a family group.
What tends to go wrong
Reading a negative as an all clear
Most tests answer a narrow question. If the family history is strong, screening recommendations may not change at all, and assuming otherwise is how people stop attending.
Acting on a consumer report
Changing medication, screening, or surgical plans on the basis of an unconfirmed consumer result is a documented source of harm. Confirm first, always.
Testing children because it is possible
A result that cannot lead to action until adulthood removes a choice that belonged to them. Where nothing would change during childhood, waiting is usually the recommendation.
Losing the paperwork
Reports are needed years later, often by a different clinician in a different system. Keep the laboratory report itself, not just the summary letter, somewhere you will find it.