Juan Francisco Cabello, MD, on How Gene Therapy Fits Into the Global Initiative for Newborn Screening

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The head of the Pediatric Neurology Fellowship Program at the University of Valparaiso in Chile discussed how a lack of cost-effectiveness may hold back the potential of newborn screening in gene therapy.

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

“...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.”

As more and more gene therapies become commercially available, thus offering treatment options for severe genetic diseases that were previously untreatable, newborn screening for such diseases becomes an even more important tool. Despite the obvious potential for synergy between gene therapy and newborn screening, the full utility of this approach to improving health equity is held back, especially on a global scale, by the currently very high costs of gene therapy.

Juan Francisco Cabello, MD, the head of the Pediatric Neurology Fellowship Program at the University of Valparaiso in Chile, presented on the topic of newborn screening from a global perspective at the 148th Annual Meeting of the American Neurological Association, held September 9-12, 2023, in Philadelphia, Pennsylvania. In his talk, he noted that many countries have yet to adopt more than a few or even any standard newborn screening practices, despite the fact that these practices can have a hugely beneficial effect on outcomes for some inborn conditions. He also emphasized that cost effectiveness is an important element in getting more countries to adopt newborn screening for specific conditions as a standard.

In an interview with CGTLive™ at the conference, Cabello discussed how gene therapy, which is still an emerging therapeutic modality, may fit into the picture of newborn screening practices. He pointed out that the biggest factor holding back more widespread adoption of newborn screening for conditions treatable with gene therapy is cost-effectiveness. Cabello also spoke about the importance of keeping a global perspective in mind when thinking about healthcare topics in general.


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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