Gene Therapy and the Global Initiative for Newborn Screening

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Juan Francisco Cabello, MD, the head of the Pediatric Neurology Fellowship Program at the University of Valparaíso in Chile, discussed factors holding back more widespread adoption of newborn screening for indications treatable with gene therapy.

This is the second part of an interview with Juan Francisco Cabello, MD. For the first part, click here.

Juan Francisco Cabello, MD, the head of the Pediatric Neurology Fellowship Program at the University of Valparaíso in Chile

Juan Francisco Cabello, MD

This year, the Global Neurology session at the 148th Annual Meeting of the American Neurological Association, held September 9-12, 2023, in Philadelphia, Pennsylvania, focused on ethical considerations in the international healthcare setting. Among the various topics discussed was newborn screening, with the talk on this subject being delivered by Juan Francisco Cabello, MD, the head of the Pediatric Neurology Fellowship Program at the University of Valparaíso in Chile.

In an interview with CGTLive™ held prior to Cabello’s presentation, Cabello discussed how gene therapy, a modality of increasing importance in the field of neurology, fits into the global initiative for newborn screening. He emphasized the importance of improving the cost-effectiveness of gene therapy products before wider adoption of newborn screening practices related to these therapies can become incentivized.

CGTLive: Can you discuss the potential of gene therapy in rare diseases and how it ties into the need for newborn screening?

Juan Francisco Cabello, MD: Well, gene therapy for newborn screening is a real challenge because, as you can suspect, there is a growing list of conditions that could be benefited by gene therapy, but gene therapy is still a very expensive therapy. So if you start looking for those patients to treat with your therapy, today in 2023, you lose completely the cost effectiveness because you will have to find rare conditions in the whole population and then you will have to offer a very expensive treatment. So, the cost-effective criteria, which is very important, since the beginning of [the initiative for] newborn screening—you will lose that immediately. So the challenge for gene therapy in newborn screening is, of course, that we need more and better products—but especially cheaper products, because the idea will be to find those patients and to offer a cost effective and good treatment to prevent the development of the clinical symptoms. That's why today gene therapy proposes a real challenge for the newborn screening world... And this is the importance of the global health perspective because you can discuss that in the United States or in any other high-income country... But if you go to two-thirds of the global population who are today not performing any newborn screening test, the discussion is completely different. So that's why this kind of discussion, gene therapy and newborn screening, should not be just a discussion in the high-income countries. It should be a global discussion. You have to include criteria like global health, social justice, disparities, and inequities, when you want to discuss these kinds of interesting topics...

Is there anything else that you want to share with the audience?

Just to reinforce: I was invited to the global health symposium, but I understand this is the American Neurology Association—so this is an American meeting. But I think every day we realize that in this kind of discussion about global health it’s very important to take into account a global perspective, and not just a one-country perspective. That's why when we discuss about orphan drugs, when we discuss about gene therapy, when we discuss about newborn screening, when we discuss about HIV, and many, many other topics in health, the global health perspective is very, very important. That's what I think this symposium tried to highlight: that there are many topics, in a meeting like this one that should be discussed with a global perspective and not just with a local perspective. That's something that we will discuss in our talk, that this is not just nation-by-nation, country-by-country; this is a transnational approach. Possibly a solution in a high-income city will be the same in the United States and in Europe, and maybe in some countries in Latin America and Asia, or in Africa, but you have to realize that there are very different problems in very different parts of the world, not just in different countries, so you have to be very creative to propose solutions not just for high-income countries, but for all over the world. I think that's the interesting part of the global health perspective for issues like newborn screening and many other topics...

Transcript edited for clarity.

Click here for more coverage of ANA 2023.

REFERENCE
Cabello JF. Ethical considerations of newborn metabolic screening in international settings. Presented at the 148th Annual Meeting of the American Neurological Association, held September 9-12, 2023, in Philadelphia, Pennsylvania.

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