Dr Mohamed Zahir, third from left, attended a national human genetics stakeholders meeting co-organised by Tanzania Human Genetics Organisation and the National Institute for Medical Research (NIMR). Credit: Aneth David.

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In Lesotho, as in many African countries, the challenge of rare diseases persists, often exacerbated by the absence of newborn screening for genetic disorders. This critical process, involving the analysis of blood samples from newborns to detect potential genetic conditions, is hindered by various factors, including insufficient funding and expertise.

Additionally, rare diseases remain poorly studied and challenging to diagnose, manage, and treat, particularly in sub-Saharan Africa (SSA), where healthcare infrastructure is limited. This situation places a significant burden on patients and caregivers alike. To shed light on the importance of newborn screening for genetic disorders, Uncensored News Managing Editor Pascalinah Kabi recently engaged in a discussion with Dr. Mohamed Zahir.

Uncensored: Thank you for allowing me this opportunity to discuss rare diseases in Africa with you. As a point of departure, what sparked your interest in rare diseases?

Dr. Zahir: Certainly. Let me provide some context about my background. I am a molecular geneticist and genetic counsellor by profession and training. Over the past five years, I have been deeply involved in establishing the Tanzania Human Genetics Organisation, which operates across five main areas.

Firstly, we conduct research on genetic conditions, focusing on both understanding the underlying genetics and exploring potential therapeutic interventions. Secondly, we specialise in the diagnostics of genetic conditions, employing advanced laboratory techniques to accurately identify and characterise genetic abnormalities.

Thirdly, we are committed to training healthcare professionals in laboratory sciences, offering specialised education and skill development from a clinical perspective. Additionally, we engage in high-level advocacy efforts, raising awareness among both the public and government officials and providing recommendations for policy development to improve healthcare outcomes. Finally, we are actively involved in therapeutics, ensuring that we stay abreast of the latest advancements and treatment options in the field.

In terms of advocacy, we place a strong emphasis on building relationships with patient families and organisations. Through these connections, the Tanzania Human Genetics Organization has collaborated closely with the Ali Kimara Rare Disease Foundation and other patient groups.

And through the Ali Kimara Rare Disease Foundation, we came to realise that there are a lot more patient groups that exist in Tanzania. These can either be lupus, muscular dystrophy groups, sickle cell or just a rare disease groups. We have also come in conduct with many other patient groups that have or are facing similar situations.

These challenges are characterised by lack of access to healthcare and routine diagnostics particularly for molecular testing. Other challenges include lack of access to open drugs, which are used for the treatment of some of these diseases. Witnessing these challenges firsthand has fuelled my passion to better understand the genetic predisposition of rare diseases not only in Tanzania but across the African continent.

Uncensored: Regarding the work you are involved in, many of us often hear about newborn screening, yet we are not quite clear on what it entails. Could you please walk us through it to ensure we have a thorough understanding of newborn screening?

Dr. Zahir: Newborn screening is a process initiated right after birth, where we collect a small blood sample from the newborn. From this sample, we isolate DNA and conduct tests to identify specific genetic mutations that the child may carry. This screening enables us to predict in advance if the child has any genetic abnormalities or variations in their DNA sequence, allowing for early intervention.

With this information, we can implement lifestyle changes or provide medication before symptoms manifest, thereby delaying the onset of any potential disease. Moreover, if we identify that a child is a carrier of a particular genetic condition, later in live, we can advise their partner accordingly, as both carriers increase the likelihood of their child inheriting the disorder. Ultimately, newborn screening facilitates early detection of genetic conditions and enables timely interventions such as lifestyle modifications and medication.

Uncensored: How commonly practised is newborn screening in Africa?

Dr. Zahir: Newborn screening in Africa is not as widespread as in other regions, largely due to various factors such as financial constraints, limited workforce, and inadequate resources required for large-scale implementation. It is extremely expensive, and we do not have the right infrastructure in place to make sure that newborn screenings happen all the time.

However, in Tanzania, we have initiated a newborn screening program, focusing particularly on sickle cell disease. Sickle cell disease is a monogenic condition that is caused by a single mutation.

In Tanzania, approximately 11,000 children are born with sickle cell disease annually, making it the fifth highest incidence globally and the fourth highest in Africa. Unfortunately, 50 percent of these children succumb to the disease before reaching the age of five.

Due to significant research efforts, training, and awareness campaigns, the government has embraced the necessity of implementing a newborn screening program for sickle cell disease patients.

This initiative aims to promptly identify affected children or carriers immediately after birth. By doing so, appropriate treatments like immunisations, hydroxyurea, and lifestyle adjustments can be initiated early, reducing the severity of symptoms and improving patient outcomes. Additionally, identifying carriers facilitates informed family planning decisions, further aiding in disease prevention strategies.

Uncensored: Considering your emphasis on financial resources, perhaps other African nations could emulate Tanzania’s approach by identifying the most prevalent rare diseases and introducing newborn screening for those conditions. If countries were to adopt a similar approach to Tanzania’s, what guidance would you offer? What key steps do you believe they should prioritise?

Dr. Zahir: I think that there are multiple things that can be done when comes to Africa as a continent, and especially when it comes to newborn screening. Now, you see, rare diseases is an accumulation of 7,000 different types of diseases. And when we say rare, it means that you are talking of one case in 2,000 people. That’s how rare is defined.

So having said that, the first thing that we need to do or countries in Africa need to do is to establish registries, databases that tell you where these patients are located, and subsequently, from a clinical perspective, what they are suffering from, meaning what does the phenotype look like, what are the symptoms that they regularly face. We also need to know the demographic information about that particular patient. So establishing of national registries is an extremely important step for any African country.

The second thing that they need to do is to establish workforce or capacity or skill set for the workforce. And when you say the capacity for skill set or workforce, it means we need to invest more in training our medical professionals. We need to train clinicians on how to identify genetic conditions. We need to train bioinformaticians who are going to use that information or the computational science to determine which mutations these patients are carrying.

We need to train nurses and other health professionals on conducting genetic counselling. We need to train molecular geneticists to determine whether or not that particular variant is causing the disease or is not causing the disease. And finally, we need to also sit down and look at these cases from a multidisciplinary meetings, whereby you are looking at a particular case study with multiple experts from different disciplines, so that information that we have is being used to improve the patient care and patient management. We want our patients to not only get the diagnosis, but also to get the appropriate care that they require for the treatment.

Apart from establishing registries and establishing where the demographic information is, countries also need to invest in training. The other thing that the countries need to do is also invest in infrastructure. Now, of course, once you have the registries and you have enough people who are trained, you also need equipment which allows you to do molecular testing.

In that sense, countries are required or are recommended to invest in genomic technologies, and that includes cytogenetic technologies, or it also includes next-generation sequencing technologies. These are the tools that will allow us to understand the sequence of the DNA, identify what the sequence of the DNA are, and if or not these changes in the sequence of the DNA actually causes the rare diseases in these countries or not.

And then subsequently, once you have established the registry, the workforce, the infrastructure, or the genetic technologies, you also want to implement that for treatment plans. You want to be also on top of the pharmaceutical drugs that we are importing, which are supposedly utilised for treatment of this order.

And most importantly, we need to create awareness of these conditions among the public so that more people understand what genetic disorders are and how they occur. This is because in Africa and many other parts of the world, many times these patients, particularly with rare diseases, are stigmatised.

They are discriminated by people thinking that there is black magic happening. And because they think that there is black magic happening, many times they are either thrown out of their houses, especially the mother who has delivered such a child, undergoes a lot of mental abuse and social stigmatisation.

Uncensored: I appreciate your insights into the issue of stigmatisation and its impact on the mental health of patients and families. What guidance would you offer to caregivers facing the challenge of societal stigma, especially those caring for young children or teenagers affected by rare diseases? How can they navigate through this difficult situation?

Dr. Zahir: For a caregiver, and particularly for patient families who undergo tremendous difficulties, dealing with society or the patient themselves, it is essential that they seek immediate medical help to understand the specific disease the child might have. They should not succumb to the idea that the condition is caused by black magic, which is sometimes believed within the family. The initial advice is to not entertain such stories and to promptly seek medical attention.

The second advice would also be for these patients or their families to connect with other family members or community members experiencing similar conditions, forming a support group. This allows them to share experiences and knowledge on how to deal with these children, as well as to amplify the voices of these children to ensure that the government and medical personnel provide the right kind of treatment and services.

The third aspect is to engage in mass awareness or high-level advocacy. Today, patients with rare diseases or their families face numerous challenges, but they should not remain silent about it. They should form groups and reach out to either the local government or professional societies involved in such awareness campaigns or disease diagnosis to help them understand the science in layman’s terms. Collaboration between professional societies and patient advocacy groups can ensure that these voices reach government authorities and prompt actions.

For example, in Tanzania, when the Tanzania Human Genetics Organization teamed up with the Ali Kimara Foundation and other patient organisations, they decided to put forward policy recommendations to the government during a stakeholder meeting.

A few years later, the Tanzanian government came forward and established a specific budget within the Ministry of Health, which is now supposedly going to be used to buy the drugs required for these patients.

The funding will also be used to provide diagnosis to these patients and in certain instances, government will also pay for homeschooling because some patients are okay to study but have special requirements.

It crucial to objectively explore partnerships with government institutions and professional bodies to amplify the voices of affected individuals.

Uncensored: I can’t help but wonder about the challenges surrounding training clinicians or medical teams in Africa. Some argue that with existing issues like brain drain and the burden of disease on the continent, further training could strain an already stretched system. How would you address this concern?

Dr Zahir: It is absolutely true that brain drain is a reality in Africa. Many highly qualified professionals often choose to leave the continent in search of better opportunities elsewhere. While this is their personal choice, it is imperative to assess the situation objectively, with the government playing a significant role.

From my perspective, there are two key actions governments in Africa should take. Firstly, they need to engage with the diaspora, particularly individuals who are leaders in their fields and originally from African countries but now residing outside the continent. Collaborating with them can support initiatives within their expertise, benefiting the continent immediately.

Secondly, governments should implement policies that require health professionals studying abroad to return and serve in their home country before seeking opportunities elsewhere. By incorporating clauses into contracts or loan agreements for educational purposes, professionals are bound to contribute to their country’s healthcare system upon completion of their studies.

Thirdly, it’s crucial to allocate funds to empower local researchers and scientists already within the country. Providing resources for skill enhancement ensures that upon their return, they are readily employed in well-paying positions, thus incentivizing them to stay. Guaranteeing job opportunities upon their return is essential for retaining local talent. These are proactive steps governments can take to address the issue of brain drain effectively.Top of Form

Uncensored: My last query delves into the role of media. How can the media transcend mere reporting to ensure that conversations on rare diseases and newborn screening stay at the forefront of public discourse? How do we guarantee ongoing advocacy and community education on these matters, rather than just addressing them on specific rare disease days or during crises?

Dr. Zahir: Thank you for bringing up that question. Personally, I believe that the media plays a pivotal role in amplifying the voices of patients and families affected by rare diseases. In Tanzania, organisations like Ali Kimara Foundation and others engage with the media through various channels, including television, newspapers, magazines, radio, and distributing informational pamphlets in both English and Kiswahili.

However, there’s a need for sustained media coverage beyond specific events like Rare Disease Day. The media should actively participate by regularly circulating information about different diseases on a monthly or quarterly basis. Continuous reminders and information dissemination on social media platforms and news channels are essential to collectively amplify voices and prompt policymakers to take action.

Currently, many African countries underutilise the media in this regard, and I believe the media should step up and actively propagate the message of rare diseases. This sustained mass education through the media is crucial for raising awareness and driving action on a regular basis.