Genetic testing has potential benefits whether results are positive or negative for regulations test results can provide a sense of relief from uncertainty and uncertainty and help people make informed decisions about managing their healthcare, for example, a negative test result can eliminate the need for unnecessary checkups and screening tests. Some cases a positive result can show a person can direct a person to where available prevention and treatment options and the physical risk associated with most genetic tests are very small particularly for those tests that require only a blood sample or just a swap. The procedure used for predatable diagnostic testing, for example called amnesian tests on carbinic villus sampling can be small but a real risk of losing the pregnancy because they require a sample of ammunitic fluid or tissue from around the fetus. Many of the risks associated with united tests involved emotional, social, financial consequences of test results. Some people may feel a little bit anxious about the results. In some cases genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested so, it is important that the tests often can’t determine in a person will show symptoms of a disorder, how severe the symptoms will be or whether the disorder will progress over time. Minor limitation is the lack of treatment and strategies for many genetic disorders once they are diagnosed so it is important that a genetics professional can explain detail, the benefits, rates and limitations of a particular test not in general so it is important that any person who is considering genetic testing understand and could balance these factors before making a decision.
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.
