Discover, in this short video, how genetic disease is passed on from one generation to the next and why some babies are born sick to completely healthy parents.
Find out what you can do to be informed of your personal risk and how you can eliminate the risk of you and your partner passing on a genetic disease to your child.
Scroll down below to find out the 8 steps to your SureMart journey and answers to some of your questions.
You may have heard of Cystic Fibrosis, Sickle Cell Anaemia, Tay Sachs. These are all examples of genetic disease: there are over 5,000 recognised genetic diseases. Their severity varies, but many of them will cause life-limiting conditions to the sufferer and sometimes lead to premature death.
Some genetic diseases will be apparent from the moment of birth, others may not manifest themselves for some years after birth.
ccording to the World Health Organisation (WHO), 1 in 100 babies is born with a life-limiting genetic disease. The term “rare genetic disease” is very misleading: although each rare genetic disease is rare on its own, all rare genetic diseases when added together affect more people than cancer and HIV combined. Genetic disease affects 300 million people globally - in terms of population, this would equate to the 5th most populous country in the world!
Unfortunately, unless you have been tested or there is already family history of a genetic disease, most people are unaware that they themselves may carry a genetic alteration which they can pass on, leading to their child being affected by a genetic disease. The tragic reality is that most couples find out that they are carriers when it is too late, i.e. when a sick baby is born.
For every couple, the average risk is 1~2%. However, if you and your partner are related, this risk can be much higher.
With SureMartTM, you and your partner will be screened for over 5,000 genetic diseases by sequencing your DNA using a technique called Whole Exome Sequencing.
At the end of the test, we will tell you whether you are both carriers of the same genetic alteration and what your risk is of having a baby affected by a genetic disease. This is currently the most comprehensive preconception test available in the world.
Genetic carrier screening tests such as SureMartTM are not yet offered routinely at IVF. So, unless you request it and your clinic is offering SureMartTM, no you will not be given the risk for you personally.
Watch this video for a short explanation
Genetic disease is caused by an alteration in our genes, also known as a “mutation”. A mutation is a change in our gene sequence which significantly changes a gene’s function - the way a gene normally works. Some changes are near-harmless, others are very severe and cause a gene to stop functioning as it should. On average we are all carriers of 12 disease-causing genetic variants (another name for a mutation). All of us - unknowingly.
This is because we all carry 2 copies of each of our genes (with a few exceptions). So, if one copy of a gene is non-functional, the “good” functioning copy of the gene will make up for the non-functioning copy of the gene. So, the good news for the carrier (= the person carrying the mutation) is that they are usually completely asymptomatic.
The problem arises when both you and your partner are carriers of the same mutation and you BOTH pass it on to baby.
If you and your partner happen to carry the same mutation, you have a 1 in 4 risk of having a child affected by genetic disease. This means that for every pregnancy, you have a 25% risk of having a child affected by the specific genetic disease. You also have a 1 in 2 probability (50%) of having a carrier-child. This child will carry the risk with them in the next generation, also unknowingly!
Yes, completely. SureMartTM is a safe and easy test that you and your partner can do from home with a simple saliva test. No needles, no fuss. We will send you all you need to your home. Then leave the rest to us.
Yes, absolutely. In fact, we strongly recommend genetic counselling before and after the test. Your results will be explained to you carefully by our Clinical Geneticist in a one-to-one appointment. We will work side-by-side with you to help you in this most important decision of your life. We will support you in your decision and help you in the next steps and into your pregnancy.
Sometimes, the test will reveal genetic information that will have a bearing on your health or your partner’s. For example, some genetic changes confer a higher predisposition to some types of cancer. If you do NOT want to know this information, let us know at the time of counselling. It will NOT be revealed to you and will be stored completely anonymously.
It depends on how far you are into your pregnancy. Do get in touch as soon as possible by booking a counselling appointment and we can advise you. It takes 6~8 weeks to get a result from SureMartTM.
Yes. Because of the way the test is set up, the results are only meaningful if both you and your partner are tested.
Offering a genetic test at this scale is still relatively new and sometimes we are fearful of the things we don’t know. If you are at all concerned, get in touch at email@example.com and we will aim to answer all your concerns. We advocate full transparency and ethical practise in the service we provide.
Only YOU can answer this. If your answer is no, then book a pre-test consultation with our Clinical Geneticist and get started on your path to a healthy family!
You probably have questions for us, or you want to discuss your family history in privacy. Book a one to one pre-test consultation with our Clinical Geneticist to have your questions answered.