Infant Gene Mapping: Faster Diagnoses, Better Treatments

Each year in Canada and the US, thousands of babies are born with unknown diseases and rare conditions – medical mysteries that often go unsolved. At least, until now. At Children’s Mercy Hospital in Kansas City, Missouri, geneticist Stephen Kingsmore is using genome mapping to shed new light on infant illness – and providing early intervention to conditions that clinical research alone could take years to address. The technology is becoming increasingly accessible. Just over a decade ago, it cost more than $2 billion to map a human genome, while today it costs Kingsmore $12,000 to complete and analyze a DNA sequence. And only about ten minutes to identify the key mutation.

New data revolutionizes pediatrics

Although pharma companies invest heavily in research and testing to ensure new drugs meet acceptable standards of pharmaceutical quality control, patients often suffer adverse reactions from new therapies, and many drugs are simply inappropriate for infants. With the help of a sophisticated DNA sequencer, Kingsmore can determine precisely where the problematic mutation lies and develop a highly targeted intervention. The technology helped save the life of baby, Kira Walker, who suffered from an over-production of insulin. When traditional drugs proved useless, genome mapping held the key to identify which part of her pancreas should be removed – an operation that saved her life and provided long term blood sugar stability.

Equal access to high-tech treatment

Stephen Kingsmore is determined to offer treatment to babies who never before would have had a chance of healthy survival. Three babies with rare genetic conditions have received bone marrow transplants based on the diagnoses he’s been able to obtain; a fourth is taking an experimental dietary supplement. “The goal is that every baby will benefit,” he said. “Every child that would benefit from a diagnosis would get one and be evaluated for potential treatment.” Professionals in the drug industry and students in pharmaceutical courses understand that gene-mapping holds the key to customized – and therefore highly effective – therapies. It also plays a crucial role in the early detection of infant disease, and the formulation of interventions that can truly change the lives of our youngest patients.

Growing interest in DNA testing

Scientists across the US are showing interest in infant DNA mapping. Cynthia Morton, a Harvard University geneticist, has proposed sequencing all the genes of babies who fail hearing tests at Brigham and Women’s Hospital, to see whether vital treatment can be provided more quickly and appropriately. The testing would identify which babies would be ideal candidates for an implanted hearing device, while preventing the devices from being implanted in children who do not need them. Parents are also on board. Results from a study conducted at the hospital reveal that four out of five families would be willing to have their babies’ genomes sequenced for medical and preventive purposes.

Are there ethical implications of mapping our children’s genomes?