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06 February 2015

Genome Sequencing in Babies to Begin As Part of Study

Sequencing in newborns can prevent disease and lead to scientific
breakthroughs later in life. WSJ's Amy Dockser Marcus discusses
with Tanya Rivero.  Photo:  Children's Mercy Kansas City
There is “strong logic and good evidence that in acutely ill babies this makes sense. It is not clear at all it makes sense in a healthy baby,”

Genome Sequencing in Babies to Begin as Part of Study
by Amy Dockser Marcus,
Wall Street Journal,
29 December 2014

A Genetic Blueprint to Carry Through Life and Help Develop Personalized Treatments

Doctors expect soon to begin sequencing the genomes of healthy newborn babies as part of a government-funded research program that could have wide implications for genetic science.

The research, to be conducted at major hospitals around the country, stems from a growing recognition that genome sequencing could someday be part of routine testing done on every baby. Such testing could provide doctors and parents a vast pool of data likely to reveal a wider range of potential medical risks than the traditional heel-prick test, in which a small sample of newborns’ blood is taken to check for more than two dozen possible conditions.

Genome sequencing of infants also someday could provide people with a genetic blueprint to carry through life. The data could be used years later to help develop personalized medical treatment, such as choosing the most effective asthma medication.

“We are entering an era where all of medicine is genomic medicine,’’ says Robert C. Green, a geneticist and researcher at Brigham and Women’s Hospital in Boston, which is participating in the research program. “In the next five to 10 years, as costs come down and interpretation is more established, it will increasingly be to everyone’s advantage to have sequencing information integrated into their care,” he says.

Early identification of diseases can save a child’s life or lead to interventions that change the course of the disorder. Whole genome sequencing or whole exome sequencing, which focuses on the 1% to 2% of the genome believed to be responsible for most genetic disorders, can help identify mutations associated with some diseases. Some hospitals already perform sequencing on a small number of newborns who show signs of illness or developmental disorders. Those experiences so far suggest the procedure can help doctors identify the underlying problems.

Many questions remain. Most of the human genome remains a mystery and it isn’t certain doctors will know how to interpret the information sequencing provides. Although the price of genome sequencing has dropped sharply, to as low as $1,000 currently, that is still well above the typical $25 cost of a heel-prick test. Doctors also face ethical dilemmas: Should parents be informed if tests reveal an infant has mutations that doctors aren’t sure will ever cause disease?

Some families are uncomfortable with genetic information and aren’t willing to have their infants tested. The programs are voluntary. But if sequencing were ever to become universal in newborns, “there will need to be population-wide education and acceptance, which I foresee will take longer than solving the technical problems,” says Joshua E. Petrikin, director of neonatal genomics at Children’s Mercy Hospital in Kansas City, Mo., which got government funding to study sequencing of ill newborns.

The National Institutes of Health last year awarded a combined $25 million to four projects looking at different aspects of gene sequencing in newborns. Other participating hospitals include University of North Carolina at Chapel Hill, which expects in 2015 to begin investigating gene sequencing in both healthy newborns and ill infants, and University of California, San Francisco, which will sequence previous heel-prick samples with the aim of improving the accuracy of newborn screening.

Brigham and Women’s Hospital, together with Boston Children’s Hospital, formed the BabySeq Project. Pending final approval, it expects to begin offering gene sequencing next year to some parents of healthy and sick newborns.

Children’s Mercy Hospital reported results of past efforts to sequence sick infants in a paper published this month in the journal Science Translational Medicine. In the study, 100 families with children affected by neurological and developmental disorders had whole genome or exome sequencing. Some of the families had been seeking a diagnosis for their children for years, while others had newborns who were very ill at birth. The analysis found that 45% of the families got a diagnosis using genomic testing. Numbers were even higher for critically ill newborns, with 73% receiving a diagnosis.

Stephen F. Kingsmore, director of the Center for Pediatric Genomic Medicine at Children’s Mercy and a leader of the study, says he expects any expanded program of newborn genome sequencing to be applied to some of the approximately 14% of the four million babies born in the U.S. each year who are admitted to neonatal intensive care units. Genome sequencing can be helpful when babies don’t exhibit typical symptoms of known diseases or have rare or unknown genetic conditions, he says.

There is “strong logic and good evidence that in acutely ill babies this makes sense. It is not clear at all it makes sense in a healthy baby,” Dr. Kingsmore says.

In one case, Dr. Petrikin, of Children’s Mercy, says doctors expected to have to remove the pancreas from a baby girl with very low blood sugar. Instead, whole genome sequencing showed treatment was possible by removing just part of the pancreas. That spared the girl having to depend permanently on insulin. In cases where genetic testing identifies a disease for which there is no cure, doctors can provide families with guidance on treatments they might want to pursue and information helpful for future pregnancies, he says.

Researchers also are exploring families’ attitudes toward genome sequencing. A study published this month in the journal Genetics in Medicine surveyed 514 parents of healthy newborns at the well-baby nursery at Brigham and Women’s Hospital within 48 hours of the birth. The parents were given information about the genome, genetic risks and background on some of the implications of genetic information. They were then asked to rate their interest in the testing if offered a chance to take part in a research study. Some 83% of the parents had some level of interest in newborn genomic testing, said Dr. Green, of Brigham and Women’s Hospital, the study’s senior author.

One of the parents interested in newborn sequencing was Donald Chaplin of Acton, Mass., whose son is now 17 months old. Mr. Chaplin, a pharmacist, says he had concerns about potential misuse of genetic data but “we still felt the more information we could have, the better.”

But Nicholas Catella, an engineer from Jamaica Plain, Mass., says he wouldn’t be interested in newborn screening unless his child’s health was at acute risk. Mr. Catella, who has two children, ages 3 years and 16 months, says sequencing might reveal information about health risks like Alzheimer’s disease, which occurs later in life and for which effective interventions aren’t yet available. In the case of his healthy children, “I would need a good reason to want that information,” he says.

Write to Amy Dockser Marcus at amy.marcus@wsj.com


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