Write-cast – No. 03 | Pre-implantation genetic diagnosis.

As we all know sickle cell disease is a severe congenital disorder in Nigeria, and one in ten people are said to have its trait and are at risk of having a child with sickle cell disease. Sickle cell disease cause multiple health complications and even with advancement in support care, it said to shortened life span of an individual with the condition, particularly if limited attention is given to this person, in terms of care and supports.

Because of the difficulties of living with this chronic disease, having a child with sickle cell disease will affect the families’ quality of life, which may lead to other social and economic issues particularly to low- and middle-class earners. Thanks to advancement in science and technology, there is cure for the disease now, through Hematopoietic Stem Cell Transplant (HSCT), using a human leukocyte antigen (HLA). A matching HLA will be required from sibling donor; however, this is a barrier that would prevent person from undergoing the HSCT. This a later topic of discussion, but now we’re going to be looking at pre-implantation genetic diagnose where parents with sickle cell disease can have another child without the disease. This is a breakthrough for science and anyone with sickle cell disease or hereditary condition – I’m pumped to consider this breakthrough in the future.

Pre-implantation genetic diagnosis (PGD) is a treatment that involve checking the genes or chromosomes of your embryo for a specific genetic condition. The embryo needs to be tested in a lab; for this reason, you need to have In Vitro Fertilisation (IVF), even if you and your partner have no fertility problems. Those embryos that have been tested and are free from the condition are then placed back into the female womb, and hopefully continue to develop. Historically, the embryo was usually transferred two to six weeks after being created but now, the embryo is more often frozen and transferred at later date.

Okay for clarification, in vitro fertilization is the fertilisation of egg outside the body – through combing the female egg with the male sperm in a laboratory before transferring it to the female uterus. This may sound like a challenging task but is not – also it safe and effective way of identifying an affected embryo before birth.

From a scientific point of view, it is possible to have a child without heredity disorder even if the parents have the disorder. This is a big accomplishment and it has been around for about three decades. Still, the process is difficult and costly, but the results are promising. Not much has been said about the dangers and side effects on the women that undergoes this process or the potential risk of this process on the baby or the mother.

Couples that are affected by, or are carrier of, monogenic diseases like sickle cell disease can use pre-implantation genetic diagnosis to identify unaffected embryos. This diagnosis can also be used to identify embryos that have human leukocyte antigen identical to a sibling who would benefit from stem cell transplant. This is important particularly to small families that may find it difficult to get a suitable donor when they are planning to undergo this procedure. The use of pre-implantation genetic diagnoses for sickle cell disease has being commissioned by the United Kingdom and other European Nation. Sadly, it is yet to be practice in African countries, but the hematopoietic stem cell transplant is being practice in Lagos Nigeria and few other states in the country.

Unfortunately, even if these diagnoses become available in African countries – it will only be affordable to high class income earners, just like the stem cell transplant. Pre-implantation genetic diagnoses is available in the United States but varies depending on the states and specific insurance providers. The number of couples that participated in pre-implantation genetic diagnoses for sickle cell disease is unknown. In South East England, couples with sickle cell disease are being advice to carry out pre-implantation genetic diagnose if they’re planning to start a family.

Personally, I think the use of this technology to have sickle-cell-free child is worth considering – female undergoes a very minimal invasive procedure and the success rate depends on the female age. To me, this is something worth considering especially for young couples that are trying to start a family – this procedure can wipe-out sickle cell disease together with the hematopoietic stem cell transplant. These means in a few decades the prevalence of sickle cell disease will be significantly low. The only downside of these technological procedure is most parents in developing nations cannot afford it, but one thing for certain, many of them would like to give this a try, me included.

The chances of a sickle cell sufferer finding partner without sickle cell disease or being a carrier is significantly high in developing nations like Africa where one in ten people is said to be a carrier or have the disease. Even though this procedure does not guarantee a 100% sickle-cell-free child – it those gave a significate change to families with sickle cell disease to have a child without the condition. The procedure also guarantees the identification of human leukocyte antigen from the embryo which can be beneficial in hematopoietic stem cell transplants. This can lead to curing a family member from sickle cell disease in the future, when the baby is safely delivered.

The downside of these technological diagnoses includes:

  • It’s not widely affordable as the cost was estimated to be around $20,000 not just for people in the developing nations but also to those in the developed nations. A survey was conducted in the United States and the major barrier mentioned in the survey was the cost of the procedure.
  • There is lack of awareness about pre-implantation genetic diagnosis and haematologist are ignoring to mention during meetings with sickle cell parents in clinics and hospitals
  • It will take ages before it is adopted in African countries due to lack willing financial partners and organisation to practice it here.
  • Lack of knowledge about pre-implantation genetic diagnoses on sickle cell patients.
  • As stated in the survey, religious and cultural believe will be major barrier in Africa.

All these barriers can be handled as soon as the practice starts to yield success in Africa. As African, we’re all about competition, for example in northern Nigeria if one family decided to participate in the procedure and they succeed in having a child without sickle cell disease. Another family will decide to give it a go – before you know it the generation of sickle-cell-free childbirth will start, and decade later the prevalence of sickle cell disease will be significantly low or no more. We just need a jump starter and sickle-cell-free revolution will start in African countries. Hopefully, this procedure would be more affordable and available in Africa for everyone to take advantage.

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