What are benefits, possible risks and limitations of genetic testing?

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1 fertility expert(s) answered this question

Answer from: Douglas Lester, PhD, MSc, BSc (Hons)

Geneticist, Co-Founder & Chief Scientific Officer Fertility Genomics
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I can’t see any drawbacks in not doing genomic testing for couples diagnosed with unexplained infertility; people want to answer why they aren’t having children. We might not be able to detect it every time, perhaps only 85% of the time, but if there is a genetic cause, we will give them an answer which will hopefully equate to a solution for them in the future. I think it empowers the patients to decide what to do next and gives them an idea.

So, for example, in infertile males, there is the PLZ1 gene mutation. You need to use the direct sperm injection method and a chemical to get fertilization for that mutation. Without the extra chemical, it doesn’t work. If they didn’t do genomic sequencing, then they would never know this. It’s rare, but hundreds of genes and hundreds of different mutations start to become common. The only way of seeing them is by sequencing all these 20,000 genes. This is our spit kit; it has a funnel which you spit in, in the tube. There’s a solution here that inactivates all bacteria and viruses immediately, so no COVID-19, no bacteria, or anything. It keeps the DNA stable for five years at room temperature to be posted back to us. We can extract the DNA, get it sequenced, interpret the results, and return it to the patients. It’s a simple, non-invasive process. It gets posted in a plain box; there’s no logo on the box. It is completely plain and innocuous, so none of the neighbors can know that they’re undergoing a fertility process. For privacy purposes, it’s a completely blank box.

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Genetic testing - risks and benefits for patients?

Genetic tests identify changes in your genes, chromosomes, or proteins. The results of such tests can confirm or rule out a suspected genetic disease or help pinpoint your chances of developing a disease or passing it to your future children.

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