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Many (maybe all, I’m not sure) of America’s states tests newborns for the presence of certain inheritable disorders, but should that include your entire genome? This release fromEurekaAlert addresses many potential problems that might arise in such a case.
Should whole-genome sequencing become part of newborn screening?
Ethical, legal and social issues should be weighed before adopting the technology in public programs, researchers argue
That question is likely to stir debate in coming years in many of the more-than-60 countries that provide newborn screening, as whole-genome sequencing (WGS) becomes increasingly affordable and reliable. Newborn screening programs – which involve drawing a few drops of blood from a newborn’s heel – have been in place since the late 1960s, and are credited with having saved thousands of lives by identifying certain genetic, endocrine or metabolic disorders that can be treated effectively when caught early enough. Advocates of routine WGS for newborns argue that the new technology could help detect and manage a wider array of disorders.
But the possibility of making whole-genome sequencing part of routine screening programs for newborns raises ethical, legal and social issues that should be weighed carefully, according to researchers at McGill University’s Department of Human Genetics in Montreal.
In an article published March 26 in the journal Science Translational Medicine, Prof. Bartha M. Knoppers and colleagues lay out key questions and considerations to be addressed. “Any change in newborn screening programs should be guided by what’s in the best interests of the child,” says Prof. Knoppers, who is Director of the Centre of Genomics and Policy at McGill. “We must also tread carefully in interpreting the scientific validity and clinical usefulness of WGS results.”
The researchers outline the following considerations:
- What information to report? Using WGS in newborn screening could generate vast amounts of information – including incidental findings such as paternity information or reproductive risks. What’s more, health-related information can include non-validated or poorly predictive results, or may involve adult-onset conditions. One possible solution: perform WGS but have a list of pediatric conditions to be communicated to parents; other results could be retrieved for later disclosure, when they gain scientific validity and clinical usefulness, or when they can be reported to the “mature” child directly.
- Impact on health care systems. If WGS in newborn screening is implemented, public health care systems would have to be revamped to handle the massive amount of information generated. The added information could also lead to more false-positive results, imposing a big burden on families and on the resources of a health-care system.
- Mandatory vs. voluntary. Most newborn screening programs currently are mandated by law or use presumed parental consent. Should parental consent be required for screening that doesn’t stand to directly benefit the infant during childhood?
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