You receive a prenatal screening report with a result you don't understand. Maybe your doctor mentions a family history of a genetic condition, or perhaps you've had an ultrasound finding that needs further discussion.
Then someone suggests genetic counselling.
For many patients, that phrase sounds serious. But genetic counselling isn't only for families who already know they have a genetic disorder. It can also help people understand risk, testing options and what their results actually mean.
Genetic counselling is a process where a trained professional helps patients understand how genetic or inherited conditions may relate to their family or pregnancy.
It can involve reviewing your medical and family history, discussing possible risks, explaining genetic tests and helping you understand what different results could mean.
The goal is not to tell you what decision to make.
The goal is to give you accurate information so that you can make an informed decision with your healthcare team.
There are several situations where genetic counselling may be useful.
Your doctor may suggest it if you or your partner has a known genetic condition, there is a history of certain inherited disorders in the family, or a previous pregnancy was affected by a genetic or chromosomal condition.
It may also be considered after certain prenatal screening results or ultrasound findings.
Importantly, being referred for genetic counselling does not mean that you or your baby definitely has a genetic condition.
Sometimes the purpose is simply to understand the level of risk.
This is one of the biggest areas of confusion for patients.
A genetic screening test estimates the chance of a particular condition. A diagnostic test is designed to determine whether a condition is actually present, within the limits of that test.
For example, NIPT is a screening test. A higher-risk result may lead your doctor to discuss additional testing.
Similarly, an ultrasound can identify certain findings that may need further assessment, but an ultrasound alone does not diagnose every genetic condition.
Genetic counselling helps patients understand these differences.
The session usually starts with questions about your personal and family medical history.
You may be asked about previous pregnancies, known medical conditions and relatives who have had certain health problems.
The counsellor may then explain whether your history suggests a possible inherited risk and discuss testing options where appropriate.
You should also have an opportunity to ask questions.
Don't be afraid to write your questions down before the appointment.
You might ask:
What does my test result actually mean?
Does this condition run in families?
What is the chance that my baby could be affected?
Do I need another test?
What happens if the next test is positive?
Are there limitations to the test being offered?
There are no “silly” questions when you're making decisions about your health or pregnancy.
Genetic testing can provide valuable information, but more testing is not automatically better.
We often recommend that patients understand why a test is being suggested before agreeing to it.
A test can have limitations, and some results can be uncertain. If you don't understand what a test can tell you beforehand, you may find the report more confusing than helpful.
Genetic counselling can help put the test into context before you make a decision.
One of our clients was referred for genetic counselling after a prenatal screening result suggested an increased risk.
The patient initially believed that the result meant the baby definitely had the condition. During counselling, the difference between screening and diagnosis was explained, along with the available follow-up options.
The family was then able to discuss the next step with their doctor based on facts rather than panic.
That's one of the most useful roles of genetic counselling: turning a frightening report into understandable information.
Be as detailed as you can.
Tell the counsellor about known genetic conditions, birth defects, unexplained developmental problems, repeated pregnancy losses or other significant medical issues in close relatives if applicable.
You don't need to know the exact medical terminology.
Even a simple description such as “my relative had a condition from childhood, but I don't know its name” can be worth mentioning.
The counsellor can help determine whether the information is relevant.
Yes.
Genetic counselling isn't limited to pregnancy.
Some couples seek counselling before conception because of family history, previous pregnancy concerns or known genetic conditions.
A pre-pregnancy discussion may help them understand possible risks and explore testing options before becoming pregnant.
This can be especially useful when there is a known inherited condition in the family.
Genetic information can feel personal.
Before undergoing genetic testing, ask how your information and samples will be handled, how results will be communicated and who will have access to the report.
You should feel comfortable asking these questions.
The internet contains an enormous amount of genetic information.
The problem is that general information doesn't necessarily apply to your family.
Two people can have similar-looking family histories but very different risks. Likewise, two screening results that use similar language may require completely different next steps.
That's why genetic counselling should be personalised.
Dr. Rajeev Ultrasound Lab provides diagnostic and ultrasound-related services that may form part of a patient's broader pregnancy or diagnostic evaluation. Patients should bring relevant prescriptions, previous reports and family medical information when seeking guidance so healthcare professionals can understand the clinical context properly.
A genetic counsellor helps patients understand inherited health risks, genetic testing options and the meaning and limitations of genetic results. They also help families discuss possible next steps with their healthcare team.
It may be useful for people with a family history of genetic conditions, certain pregnancy findings, previous affected pregnancies, known genetic conditions or particular screening results. Your doctor can advise whether counselling is appropriate.
No. Genetic counselling is the process of discussing risks and testing choices. Genetic testing involves analysing biological material, such as blood or another sample, to look for specific genetic information.
Genetic counselling is not about predicting your entire future.
It is about understanding information that may otherwise be difficult to interpret.
If your doctor has recommended counselling, take your reports, family history and questions with you. A good discussion can help you understand what you know, what you don't know and what options are available.
If you have been advised to seek genetic counselling, contact our team with your relevant reports and doctor's recommendation so we can guide you about the appropriate next step and appointment process.
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