Genetic causes of infertility explained

Douglas Lester, PhD, MSc, BSc (Hons) Human Genetics
Co-Founder & Chief Scientific Officer at Fertility Genomics, Fertility Genomics

Fertility Assessment, Genetics PGS / PGT-A

From this video you will find out:


  • What can your DNA tell you about your fertility?
  • What methods can be used to detect genetic disorders?
  • What is a “Fertility DNA” test? How accurate is it, and how it works?
  • How Fertility Genomics DNA test can help me with deciding which treatment option is best for me?

What are the most common genetic causes of infertility?

In this session, Dr Douglas Lester, PhD, MSc, BSc (Hons) Human Genetics, Co-founder and Chief Scientific Officer at Fertility Genomics, which offers a DNA test to couples suffering from unexplained genetic infertility that will help them determine the best method of assisted conception treatment. Dr Lester has discussed the genetic causes of infertility.

- Questions and Answers

You have mentioned that you are helping patients from the UK. What about patients from abroad?

We’ve just launched in the UK, but we’re hoping to team up with them with DNA sequencing companies from abroad and offer it all around Europe and America, the whole world. Initially, we’ve just set up in the UK. Hopefully, within a year, we hope to be launching as many sites as we can. In Europe, we’re in discussions with a European sequencing company to enable us to move out to the whole of Europe soon. We’ve only launched two weeks ago, we just got our first customers. This is hot off the press, it takes a long time to get things into place to get all the procedures in place and everything up to clinical satisfaction, but we’ve just launched now.

How do you test for recurrent miscarriages implantation failure in the female partner specifically, and what treatments are recommended best, based on your tests?

This is still in a bit of a research area, but some genes predispose you to miscarriage. Factor V Leiden variant it’s called, and that predisposes you to miscarriage. Unfortunately, treatments aren’t on stream yet, but who knows. If they can come up with a treatment for that, then finding out that you’ve got factor 5 Leiden in advance, knowing you’re at risk of miscarriage that would alert the doctor in advance. If there were new treatments available, then that might prevent the miscarriage, so that is still maybe in research but number one for the future. Some definite genes cause the failure of the embryo to implant. There might be treatments available in the future for that, but these are still very experimental at the moment.

For egg donation, do you test for VEGF (Vascular endothelial growth factor) factor issues in the endometrium?

We could look at that gene, the VEGF factor. This is the beauty of our sequencing company because we sequence all the genes. If new research comes out and says that VEGF, a variant of EGF definitely, causes problems and there’s a treatment, then yes, we could easily look for VEGF. It’s not on our list, but as soon as I’m finished with this off, I’ll go and look at the information, and we can add VEGF to our list. Any genes at all if the patient requests a gene, we could probably actually look at that gene, but it’s only useful if there’s a treatment, it would be better.

New genes are coming out every day, well maybe not every day but at least I get updates from the main website Online Mendelian Inheritance in Man (OMIM™), and I get updates from them all the time, and they alert me that there’s a new gene for implantation failure, the new gene for IVF failure and so on, and then we just add that to our list, we’re sequencing all the genes at the moment, it just means that we will look at that gene in the future.

The good news for the parents is that you usually need two bad copies of the gene before you’re affected, and you will only pass on one of these bad copies to any child you eventually have, so the child itself will not suffer from infertility. I didn’t say that in the talk, but that is one good news coming out of it. If we manage to identify the problem and maybe point the people towards direct sperm injection ICSI, then the child born from that it’s very unlikely that it will have fertility issues like the parents, so that’s one good thing that comes out of it.

For problematic sperm count, how many genes would you test in a husband?

Probably at least 500. We will look at a lot of sperm genes that are known to affect sperm. If it is azoospermia, we could look at a lot of genes for that.

If one of these 500 is found to be abnormal, is there a therapy available? As my understanding is, we cannot change our genes, can we?

That’s yes, it might be that we’ll advise that IVF might not be the best route and the direct sperm injection method, in this case, might be better. If it’s low sperm count, it might be better to do a direct sperm injection method and yet no we can’t change our genes but as I said before you’re only going to be passing one of the bad genes to your child at the end.

Hopefully, new drugs will come on stream, this is what we’re hoping that as we build up the database, as we get better correlations between a clinical outcome on a particular gene, then the drug companies will get interested in that particular gene, it’s a drug target and then hopefully it might be able to sort the problem even without IVF, or with IVF or with the direct sperm injection method or advanced direct sperm injection method, so we’re hopeful that this is going to benefit patients but the results of these findings that you know each individual case could help further other unfortunate couples in the future as well.

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Douglas Lester, PhD, MSc, BSc (Hons) Human Genetics

Douglas Lester, PhD, MSc, BSc (Hons) Human Genetics

Dr Douglas Lester is an expert in the field of genetics with over 38 years of experience in human genetics and bioinformatics DNA analysis. He is a co-founder and Chief Scientific Officer at Fertility Genomics. Fertility Genomics offers a DNA test to couples suffering from unexplained genetic infertility that will help them determine the best method of assisted conception treatment. The patient’s DNA is extracted and sequenced using Whole Exome Sequencing and following bioinformatic analysis, couples are advised to undergo either conventional IVF or the direct sperm injection method (ICSI) to maximise their chances of conception. Fertility Genomics is based largely on novel findings around DNA mutations related to deleterious variants in our male and female gene panels that are likely to be the cause of defective sperm and/or oocyte function. Following graduation in Genetics from Edinburgh University, Dr Lester was a researcher at the South African Institute of Medical Research in Johannesburg. During his PhD at Newcastle University, he was involved in identifying novel DNA mutations underlying inherited retinal degeneration. After his PhD, he undertook several postdoctoral positions in DNA analysis at the MRC Human Genetics Unit and the Roslin Institute. In the latter institute, he was the first in the world to identify the human UBE2J1 gene, which was later shown to be involved in infertility in mammals. Since 2000, he had been a lecturer in Medical and Forensic Genetics at Abertay University and now has an emeritus status there. Dr Lester’s work and research have always involved gene mutations, which ultimately led to the foundation of Fertility Genomics, where he can use his expertise and knowledge to help people achieve their dreams of having a happy and healthy baby.
Event Moderator
Caroline Kulczycka

Caroline Kulczycka

Caroline Kulczycka is managing MyIVFAnswers.com and has been hosting IVFWEBINARS dedicated to patients struggling with infertility since 2020. She's highly motivated and believes that educating patients so that they can make informed decisions is essential in their IVF journey. In the past, she has been working as an International Patient Coordinator, where she was helping and directing patients on their right path. She also worked in the tourism industry, and dealt with international customers on a daily basis, including working abroad. In her free time, you’ll find her travelling, biking, learning new things, or spending time outdoors.