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What is the procedure for genetic/genomic testing?

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2 fertility expert(s) answered this question

Answer from: Maria José Mendiola, MD, MSc in Human Genetics, MSc in Science Communication, ObGyn

Gynaecologist, Gynaecologist in Reproductive Medicine & Reproductive Genetics
Clínica Monterrico
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Once a person decides to proceed with a genetic testing, a health care provider can arrange testing. Genetic testing is often done as a part of genetic consultation and genetic tests are performed on the sample of skin, amniotic fluid that is the fluid that surrounds a baby during pregnancy or other tissue, for example, a procedure called “buccal smear” which uses small pressure cotton swab to collect a sample of cells from the side surface of the chick. The sample is sent to a lab where technicians look for specific changes in chromosome DNA proteins dependent on the suspected disorder. The laboratory reports the test results in writing to a person’s doctor or genetic consultant. For example, newborn screening tests are done on a small blood sample which is taken by pricking the baby’s heel. Unlike other types of genetic testing, a part will usually only receive the result if it is positive. If the result is positive additional testing is needed to the treatment if the baby has a genetic disorder so, before a person has a genetic test it is important to understand the testing procedures, the benefit, limitations, the possible consequences of the test results. The process of educating a person about the test and obtaining permission that is called informed concern is very important. Individuals interested in direct consumers genetic testers do not need to go through a health care provider, for example, to obtain taste but they can get it from the testing company after undergoing direct to consumer genetic testing, people could test positive recognition or are found to be a higher risk of developing a disorder are encourage to follow up with a health provider or a genetic counselor in this way.

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

Geneticist, Co-Founder & Chief Scientific Officer
Fertility Genomics
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For our company, Fertility Genomics, we provide a simple DNA spit kit test, which comes in this package here and contains a simple funnel on a tube with a solution. All the patient has to do is spit in the funnel as long as it’s attached to the tube. The liquid inside the tube will then activate all bacteria and viruses. So we don’t get COVID-19 or any bacteria that will be active after you’ve mixed it. The DNA in the tube is then stable for five years, so it’s perfectly easy to post it back to us. We can then extract your DNA and sequence all the genes, analyze them, provide a risk score and hopefully advise which assisted fertility conception route is best for each particular couple.

At the moment, only people from the UK can get it legally; we’re looking to move into Europe and other markets. It’s only available in the UK, from our website, www.fertilitygenomics.com. You can order a single kit for yourself, or we give a discount for couples. But each member of the couple has to fill in the form themselves. It is their DNA result; it’s not their partner’s DNA result. The woman won’t find out the man’s DNA, and the man won’t find out the woman’s DNA; that is their result days. It’s up to them whether they want to share it with their partner or not. We also do same-sex couples testing as well; again, there’s a couples discount; again, it’s their DNA, not their partner’s DNA. Presumably, if they had a donor sperm and had permission from the donor sperm for lesbian couples, then again, it would be the donor’s information.

As soon as a result is out, they will also receive an email, not with the result, though. They will have a special code in that email to activate on our website. They will get access to the report then. It’s perfectly secure; we employ people that have Ethical Hacking Degrees. They’ve been trained to break into other people’s databases ethically, so they know how to put firewalls up. We’re very secure. They are from Aberdeen University, where I used to be, and they run an Ethical Hacking course, which is world-renowned. One year they hacked into our school’s exam questions to show it could be done, and we had to make it more secure. So they don’t want to advance how hackers work because that would be catastrophic if any of this information got out. It’s very private.

Hopefully, insurance companies won’t demand it. I’m very against any insurance companies demanding that you have to share your genetic information. We’re all human; we’re all flawed. We all have genetic mutations; we should all be insured equally. We don’t want apartheid system where different people are, discriminated against because they carry a particular mutation; that would be unethical. We only reveal one gene, and then we have a risk assessment score. Let’s say there’s a 99% chance with this gene mutation, which is backed up by clinical evidence that you’re always going to fail IVF. We would advise you to switch to the direct sperm injection method probably.

 

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Genomic testing - how does it work?

Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid or saliva which is then sent out to the laboratory to be thoroughly tested.

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