In this interview with SADE OGUNTOLA, a Principal Medical Officer at the University of Ilorin Health Services Clinic and the overall best graduate from the 20th Genetic Counselling Training Course on Sickle Cell Disorders by the Sickle Cell Foundation Nigeria, Dr Nathaniel A. Akintunde, advocates for genotype screening and genetic counselling for all Nigerian adolescents to reverse the burden of the disease in Nigeria and enhance quality of life for persons with the disorder in Nigeria. Excerpts:
WHAT is genetic counselling all about?
Genetic counselling refers to the provision of accurate, full and unbiased information in a caring relationship that offers guidance but allows affected individuals and families or those at risk to make their own decisions as regards genetic diseases. There are many genetic diseases, but the commonest that readily comes to mind, especially in Nigeria, is sickle cell disorder. There are other blood-related genetic diseases, like thalassemias and Hemophilia.
However, it is applicable to other conditions like breast and ovarian cancers and sometimes some medical conditions like infertility, stillbirth and multiple miscarriages.
So, genetic counselling is not restricted to sickle cell disorders. It has a role in other diseases such as Down’s syndrome, haemophilia (a disorder in which blood does not clot normally) and cystic fibrosis. More so, between five and 10 percent of breast, ovarian and some other cancers have genetic origins.
In fact, studies have shown it has a place in the prevention and management of cancer. There could be mutations in different genes in people’s bodies that later manifest as diseases, including cancer. As such, an understanding of the family tree and the existence of some of these diseases in the family can help an individual to take proactive steps in the prevention and management of these diseases in their own body.
In the case of sickle cell disorder, how can genetic counselling help both in prevention and ensuring healthy living for people with the condition?
Genetic counselling, with regards to sickle cell disorder, has many applications. First, it can help people with the condition and couples at risk of having an affected child understand how sickle cell disorder comes about, the fact that it is an inherited disorder with contribution from both parents. The child ends up inheriting either the hemoglobin S gene or another variant such as the hemoglobin C gene, which are the commonest ones in our environment. Of course, there are over 1,400 variants of the hemoglobin types. The usual hemoglobin in adults is Hemoglobin A. Hemoglobin S and C is as a result of a mutation in the chain that produces them. However, some people with just one of the unusual Hemoglobin inherited from either parent, for example, those with genotype AS, are called sickle cell carriers or sickle cell trait. The other common hemoglobin carrier or trait is AC. This is where genetic counselling comes in to help a sickle cell carrier make an informed decision about the choice of a spouse who also has a genotype AS or AC. The chances of birthing an SS or SC child is fully explained to them. It is important to note that an expert in genetic counselling should be consulted for this.
Another level of genetic counselling for sickle cell disorders is helping intending couples who are at risk of giving birth to a child with sickle cell disorder (e.g AS/AS couples) with information on the different options available to them to avoid having a SS child. One of these is what we call pre-natal diagnosis (PND), where the genotype of the unborn baby can be detected at about 11 weeks of pregnancy.
Through counselling, people already diagnosed with sickle cell disease (children, adolescents and adults) and their parents and caregivers can gain a full understanding of the need for adherence to preventive measures and treatments to maintain a better quality of life. Because they are made to understand how all these preventive steps and processes work. Compliance is high, which reduces the frequency of sickle cell crises and hospitalisations.
If that is the case, does genetic counselling therefore have a role to play in stemming the number of people with sickle cell disease in Nigeria?
Certainly, genetic counselling is important to reduce the number of people born with sickle cell disease in Nigeria. In Nigeria of today, we still have people just going into marriage and having babies without knowing their genotype. We have teenagers with unplanned pregnancies, couples in monogamous and polygamous marriages without any premarital genotype screening. Although awareness is increasing about sickle cell disease, in some places, they are still being stigmatised and called derogatory names such as ‘Abiku’, ‘Emere’and ‘Ogbanje’. They are perceived not to be able to live up to a certain number of years before they die because of ignorance and lack of access to standard medical facilities in years past. There is lack of understanding that it is a genetic/inherited disease, so they rather attribute it to something supernatural or demonic.
No doubt, with genetic counselling, we are bringing knowledge and information, stressing that the condition is not supernatural; it is just the fact that the child inherited hemoglobin S or C from the parents. With that knowledge, people can now make better, more informed decisions about whom to marry, thereby reducing the incidence of sickle cell disease.
Also, carriers who still want to get married to each other, through counseling, are made aware of the implications of having children with the SS genotype. Quite a number opt out of the intended marriage, but those that want to go ahead are offered options like adoption of children or prenatal diagnosis to screen the genotype of the baby while still in the womb. This is possible as early as the 11th week of pregnancy. If the genotype of the unborn baby comes out to be SS, the couple’s option will be either to keep or terminate the pregnancy. The termination of the pregnancy is fraught with many issues ranging from religious perceptions to psychological: But still, it is a medical option. The decision lies entirely with the couple.
Yes, genetic counselling does a lot to reduce the incidence of sickle cell disease cases and to improve the quality of life of people living with sickle cell disease and trait, but a lot of factors come into play in marital relationships, so a counsellor does not take a decision for the couple. However, we supply all the needed information. Couple who are sickle cell carriers must be fully aware of the implications of going ahead with procreation. There is a 25 percent or one in 4 chance that each pregnancy can be SS. Not that one out of four children will be SS, but the chances occur for each pregnancy. This means, a couple can have all the children being SS and may also not have any. It’s simply a game of chance.
Is the number of new sickle cell disease cases reducing in Nigeria?
Well, it might be difficult to say categorically if sickle cell disease cases are reducing in Nigeria. Different researchers reported varied outcomes based on geographical location. However, what is certain is that awareness of sickle cell disease is getting stronger and there is a major decline in the mortality rates. What is established as of today is that Nigeria still has the highest burden of sickle cell disease in the whole world. Currently, the prevalence of sickle cell disease in Nigeria is between two and three percent and one in four Nigerians has the sickle cell trait. It means about three to four million Nigerians are living with sickle cell disorder and over 40 million Nigerians are sickle cell carriers. That is a lot, and that is why we are still working to create more awareness about sickle cell disorder so people can understand the disease. In addition, in order to reduce the burden of sickle cell disease, I understand that the Federal Government has launched a programme to screen newborns for sickle cell with point-of-care test kits to determine their genotype at birth. Its pilot phase started in South-West Nigeria, and it is going to spread across different geopolitical zones.
In past years, Individuals with sickle cell disorder used to die young. But this has changed now; they grow old, get married and have children of their own because of improved medical care and awareness. However, a lot still needs to be done in core rural areas with no access to these facilities.
That individuals with sickle cell disorder cannot have babies or that they are always sickly, slim and underweight are misconceptions. These are absolute lies. They can, and it is also not true that they have to be slim and underweight; it all boils down to the level of care the person is exposed to. For example, good nutrition, including adequate intake of water, high-protein diets, plenty of fruits and vegetables, taking their daily medications and complying with all the steps to prevent infections are helpful to their health.
In childhood, there is a tendency for them not to catch up in growth and development with their contemporaries, but eventually, with proper care and nutrition, they do so. The real issue is the degree of care and medical awareness that they have and utilise to take care of themselves.
Where can individuals get access to genetic counselling?
Now, the focal point for information and help on genetic counselling is the Sickle Cell Foundation Nigeria, which is opposite LUTH, Idi-Araba, Lagos. The foundation has trained over 1,000 genetic counsellors that are in different parts of Nigeria; they will easily give contact information of their trainees that is closest to the individual that needs the service. I am also a trained genetic counsellor and work at the University of Ilorin Health Centre in Kwara State.
At the Bethesda Sickle Cell Foundation, what has been your experience with sickle cell disease in North-Central Nigeria?
Bethesda Sickle Cell Foundation is an emerging NGO that was recently launched to take coordinated action on sickle cell disease. However, I have been involved in sickle cell disease advocacy before now. One of the things that aided my passion is the large number of people living with sickle cell disorder I see regularly. Specifically, at my workplace, we see them virtually on a daily basis; sometimes we have two or three on admission at the same time. I empathise with them when going through their painful crises and I feel the need to address the fact that it is an avoidable and preventable disorder.
This boils down to a low awareness of sickle cell disease, possibly in rural areas, increasing teenage pregnancies without premarital genotype screening, as well as many married couples not knowing their genotype, among many other factors. As such, the Bethesda Sickle Cell Foundation has been an advocate for genotype screening in secondary schools and universities, so that students can know their genotype early, before going into relationships and they can make an informed decision. Genotype test must be part of the compulsory medical screening for all fresh students in all tertiary institutions.
It is very crucial for health workers to update their knowledge to be able to help people with sickle cell disorder live a better life, spread the right information and demystify sickle cell disease. It was when I went for genetic counselling training in Lagos that I also got exposed to the recent advances in the medical management of sickle cell patients in all aspects.
Now, we are talking about a cure for sickle cell disease through a bone marrow transplant or stem cell transplant. It is now available in Nigeria. There is a new well equipped bone marrow transplant centre in LUTH, in partnership with Sickle Cell Foundation Nigeria (SCFN), Lagos State government and Vanderbilt University Medical Centre, Nashville, USA. Of course, it is expensive and not everyone may be qualified for the procedure, but it is a landmark development to have such a centre of excellence available in Nigeria, and people don’t need to go overseas to have it done.
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