Full Genome Sequencing for Newborns Raises Questions

Should every newborn baby have their genome sequenced? That is the question that Bonnie Rochman discusses in this article, published in Scientific American. She begins by giving an example of a young infant named Cameron who died of severe combined immunodeficiency, or SCID. Cameron had had his genome sequenced when he was born, but the hospital did not screen for SCID. Had they screened for SCID, Cameron could have been treated and he would have survived. SCID is now one of the diseases babies are screened for when they are born, but there are still so many that are not.

The benefits of mapping out an infant’s genetic code are obvious. Children who are at risk of developing certain diseases or who already have them could be treated and be spared a lifetime of suffering. But the majority of a child’s genome would still be incomprehensible. Michelle Huckaby Lewis,  a pediatrician who researches genetics, worries that genetics and subspecialty work forces will not be able to keep up with the demand of the number of parents that want to know more about their child’s genome and that children who don’t have any major conditions will make access more difficult for the children that do.

The BabySeq project is a newborn screening study that is taking place at Harvard University. They are examining how doctors can use genomic data to improve children’s health care. Robert C. Green and Alan Beggs are studying 240 sick and 240 healthy newborns, randomly sequencing half of each group to assess whether parents of sick kids respond differently to sequencing results than parents of healthy do. They are looking to answer the questions “Do parents of sick babies find the additional information helpful while parents of babies deemed healthy find it overwhelming?” “Does either group prefer the more limited picture provided by conventional newborn screening?” “What is the best way for doctors to incorporate this wealth of data into caring for the youngest and most vulnerable patients?” Green and his colleagues surveyed parents after their child was born to see if they wanted there baby’s genome to be sequenced. There was an overwhelming number that did. Three months later, they explained to the parents that they would telling them if their child would be at risk for cancer or Parkinson’s and the number of parents that wanted it stayed about the same. There is an obvious demand for genome sequencing, but Green is worried about causing anxiety, distress, and misconstruing information.

I was particularly interested in the questions that Green wanted to answer. He didn’t focus on whether genome sequencing should be done. He focused on if it would actually help and how it could be used to improve care for infants. It was interesting approach. There is an obvious need and demand for genome sequencing, and health care seems to be inevitably moving in this direction.