Whole genome sequencing for infants needs careful study

Michael Cook
29 March 2014
Reproduced with Permission

Should whole-genome sequencing be used in public-health programs which screen newborns for rare conditions? That question is likely to stir debate in coming years in many of the 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. Advocates of routine WGS argue that the new technology could help detect and manage a wider array of disorders.

But routine whole-genome sequencing raises ethical, legal and social issues that should be weighed carefully, according to an article by researchers at McGill University in the journal Science Translational Medicine. "Any change in newborn screening programs should be guided by what's in the best interests of the child," says Prof. Bartha M. Knoppers. "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? Vast amounts of information will be generated -- 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.

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?

Educating health professionals and parents. Many doctors have little training in genetics, so health professionals and parents will need more education in genetics and genomics.

Data storage. Should raw data be stored in the patient's file? If so, under what conditions and for how long?

Insurability. Data obtained through WGS newborn screening would be part of the medical record, potentially leading to issues regarding insurability.

"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. "Medical and public education programs need to be put in place so that people understand the limits of whole-genome sequencing."