Understanding Genetic Carrier Screening Results

Genetic testing results can be difficult to understand. Luckily, the Lumi team is here to help demystify your results and explain the different result types.

When you first receive your reproductive carrier screening report, it can be a bit difficult to understand. There are several different types of results you can receive, and you might receive results for multiple different conditions at once.

In order to best understand your results, we've provided a basic explanation of some of the more common results you might receive.

What are the different types of carrier screening results?

Results can be reported in a number of ways.

Some of the more common terms you might see are: "negative result", "positive result", "high risk", "low risk", "increased chance", "low chance", "carrier", "inconclusive", "variant" and "mutation".

Each gene & condition will have a different result, so you might see multiple or a mix of these terms aross the different genes.

Understanding your genetic carrier screening results will empower you to make informed decisions regarding your health, family planning and your lifestyle.

Before trying to interpret your results, it is important to acknowledge that each person is unique, and – as such – the impact of results will be different for each person.

Discussing your results with a genetic counsellor can help you process what the result means to you and your family. It may help you understand what treatment and support options are relevant to you.

Carrier screening is not diagnostic testing. It assess your risk of passing on inherited conditions, but doesn't detect if you have a condition.

Here's a basic explanation of what each result type means.

What does a "negative", "low risk", or "low chance" result mean?

If your carrier screening results are listed as "negative", "low risk", or "low chance", this means nothing unusual was found in your genes.

In this case, the test results suggest you & your partner's children shouldn't inherit this condition. You most likely will not need to undergo any further testing for this condition.

It's important to note that this doesn't necessarily mean you and your partner aren't carriers. It simply means that as a couple, you are unlikely to pass on the condition. In the event you change reproductive partner in future, you will need to get new results.

What does a "positive", "high risk", or "increased chance" result mean?

If your carrier screening results are listed as "positive", "high risk", or "increased chance", this means the testing detected a change in your DNA. This change is known as a "variant" or "mutation".

To obtain a "positive", "high risk", or "increased chance" result, both you and your partner need to have the same mutation for the same gene. If you both have a mutation for the same gene, there's a higher risk that your children could inherit 2 copies of the mutation (thus having the condition).

If you receive a positive result, talking to a genetic counsellor is a good idea. They can explain how it affects you, your family, and what steps to take next. Genetic counselling is complimentary with every Lumi Health test.

What does a "carrier" result mean?

If you are an individual taking a test and you receive a "carrier" result, this means you are carrying the condition recessively.

While you don't have the condition yourself, you do have 1 copy of the mutated gene that you could potentially pass on to a child. You can receive this result even with no family history of a condition.

This result might not affect your health but could impact family planning. In this case, it is highly recommended that your reproductive partner is also tested to see if you have an increased chance as a couple.

What does an "inconclusive" result mean?

Sometimes, the test can't give a clear answer.

There's a few reasons why this happens. Sometimes there isn't enough DNA collected in the sample to produce an accurate result, or other times the DNA variation is not yet understood.

If the result is unclear because of insufficient DNA, you might need to redo the test with a new sample. If you're getting testing through Lumi, we'll organise this for you automatically at no extra cost to you.

If your result in inconclusive due to a genetic variation that's not understood, talking to a genetic counsellor or doctor can help figure out what to do next.