ARTICLE SUMMARY:
As advances in gene and cell therapies make the possibility of curing some inherited genetic diseases a reality, the need for rapid screening and diagnosis of genetic variants is getting more urgent. Immunologist and cell therapy expert Stephen Kingsmore is at the forefront of making that happen.
The Food and Drug Administration’s approval in March 2024 of a gene therapy for metachromatic leukodystrophy (MLD), a fatal genetic disorder that destroys children’s neurons, is the latest example of how advances in gene and cellular therapies are upending treatments for a select group of rare, inheritable genetic diseases.
The therapy, Lenmeldy, can be remarkably effective, enabling some children who have the disease to lead normal lives. But it comes with a hefty price tag--$4.5 million—and doesn’t reverse damage caused by the disease. If it is going to have value, it needs to be given to children as early as possible, even before symptoms appear.
Making sure that rapid identification is a routine part of clinical care is the goal of Stephen Kingsmore, MD, DSc. An immunologist by training, the president and CEO of Rady Children’s Hospital Institute for Genomic Medicine in San Diego years ago began focusing on an entirely different area of medicine--pediatric genomic testing and newborn screening. His group at Rady twice set the world record for the fastest genetic diagnosis of a child through rapid whole genome sequencing (rWGS)—marking just 13.5 hours from sample collection to diagnosis of a rare disease.
More recently, the group has been studying the power of rWGS for newborn screening and optimizing ways to educate providers on the nuances and value of the test results. This work is increasingly urgent, as new, highly targeted therapies like Lenmeldy advance through trials and into clinical care, with real gains expected in the foreseeable future.
