Ahram Online: Would you please tell us about the purpose of your visit to Egypt?

Prof. Franz Schaefer: We have many lines of collaboration between the International Pediatric Nephrology Association (IPNA) and Egyptian doctors. For this time, I have been invited by the Egyptian Society of Pediatric Nephrology and Nevine Soliman, professor of pediatric nephrology at Kasr Al-Ainy Faculty of Medicine at Cairo University, to co-organize a teaching course about kidney genomics for practising nephrologists.

AO: How far along are we implementing genomic knowledge in clinical practices?

FS: That was my keynote lecture. The genomic revolution has identified multiple genetic causes of kidney diseases that affect children and adults. We can now better understand the background of the diseases we are treating and predict the risk of the progression, the outcome of the diseases and their amenability to therapeutic interventions.

We have certain therapies available that will work in patients with certain genetic diseases but not in patients with other genetic or non-genetic diseases. That is why it is very important to identify the genetic cause of the diseases in all the patients affected.

Normally, genetic therapies can be medicine. There are an increasing number of medications that are becoming available that interfere with the mechanisms that the diseases work through. If you have a genetic defect in a certain system, you can overcome the defect by a certain medication. Some treatments can be used in the very early stages to correct genetic abnormalities.

In the next few years, we will have several new therapies for the most devastating kidney diseases that work through the correction of the underlying genetic defects. These advanced treatments will interfere with the root of the problem by correcting the genetic abnormality.

AO: Why is it important to invest in genomic studies regionally?

FS: Rare diseases are usually caused by mutations that spread within a certain region. In studies, we found disease-causing genetic mutations that are only known in Europe.

Conversely, in Egypt, I would suppose that there are some variants that we don’t know, and the studies that we have done in the Western world have not picked up these variants. That is why it is very important to know the genetic makeup of the local population.

I think that the Egyptian Genome project is really fundamental and essential to understand the common rare diseases in Egypt. There are many variants that we don’t know if they are disease-causing or not and how common they are in a particular population.

If they are fairly common then they are less likely to be pathogenic, and if they are less common, they are more likely to be the cause of the disease. That is why it is very important to know exactly what percentage of the population carries a certain variant with or without any symptoms. This is the baseline that we need to interpret the genetic findings in a meaningful way.

AO: How can low- and middle-income countries enhance their medical services with respect to the shortage in budgets?

FS: As genetic testing has become affordable, there is no reason not to identify the genetic causes of the diseases in all populations. Aside from the treatment's economics, we should know the type of disease we are dealing with.

The following step should be how could make the therapeutic innovations available and accessible in low- and middle-income countries. Eventually, treating with expensive genetic drugs may save money and follow-up costs compared to traditional therapies. If you don’t treat with an effective drug early, patients will need lifelong treatment and that is what we see in many kidney diseases.

In short, new therapies help to stop disease, save the patient’s health, and limit the lifetime expenses for treatment.

AO: Are the new and future medicine curable treatments?

FS: There is a wide range of advanced therapeutics that will be widely used shortly to treat humans. That includes gene therapies, tissue engineering, and somatic cells.

Studies have shown that if you treat patients with the new target drugs for a limited period of time, patients get cured. For sure, you have to monitor the patients to detect relapses to treat them again with the same medication for a short period of time, so you don’t have to expose the patients to the traditional treatments for the long term.

For the gene therapies that are expected to be in the markets for the next five to 10 years, these treatments are expected to be a one-time therapy for children and adults. We have evidence from animal trials, and many of these therapies are now being transferred to early clinical trials on humans within the next few years.

So, if you perform gene therapy, correct the genetic defect in the sick organ and it should work for many years and maybe lifelong. That’s what we expect so far.      

AO: What are the possible side effects associated with genetic medicine?

FS: There could be off-target effects that the correct gene construct integrates into the wrong cells and it leads into alteration of the functioning of the genetic machinery in the part of the body that you don’t want.

There is also the worry about the doses of the medicine which could be too high or too low causing a derangement of the metabolic system.

With these real gene therapies which use viral particles, the body may develop immunity against these viruses, which means that you can only be treated once and not anymore as the body will develop immunity against the genetic treatment.

All these issues are currently under discussion and evaluation. On another note, the evidence that we are witnessing of genetic medicine on animals look to be so promising.

AO: Are there ethical guidelines for the use of new medicine?

FS: In Europe, the European Medicine Agency (EMA) has launched some guidelines for using new therapies. Since medicines are developing so quickly, new questions are coming up all the time, which brings us back to revising the guidelines regularly.

AO: What would be your advice to the low- and middle-income countries regarding the future of medicine?

FS: I think that Egypt and developing countries should strive to have guidelines for the genetic diagnostics for rare and hereditary kidney diseases, to know what diseases you are dealing with, then you can shape the therapies and omit toxic treatments that are ineffective for patients with genetic diseases.

It is very important for a society like Egypt to have good diagnostic confirmation by genetic screening. The second step would be to gradually introduce the new medications, which would require discussions with the policymakers and very thoughtful development of strategies on how money can be efficiently managed to treat patients with advanced medicines.

*Prof. Franz Schaefer is the chief of the Pediatric Nephrology Division at Heidelberg University Hospital in Germany, He is also the president of the International Pediatric Nephrology Association (IPNA) and the Coordinator of the European Rare Kidney Disease Reference Network.