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Contact: Chris Chipello
McGill University

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:

"Without clear policy direction and public discussion on the possible future integration (or not) of WGS into newborn screening, more parents in years ahead may choose to pay for whole-genome sequencing through private testing services," says article co-author Karine Sénécal, an academic associate at the Centre of Genomics and Policy at McGill. "Medical and public education programs need to be put in place so that people understand the limits of whole-genome sequencing."


Prof. Denise Avard, Research Director for the Centre of Genomics and Policy, and Prof. Pascal Borry of the University of Leuven in Belgium, also co-authored the article.

For more information on the Centre of Genomics and Policy: http://www.genomicsandpolicy.org/en

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