Whole genome sequencing of newborns

(Image removed) Whole-genome and whole-exome sequencing are accessible and becoming more and more common in research. But they are also becoming more common in health care settings. We can expect the use these sequencing approaches to become even more common and available: Both for patients and for ordinary people who are interested in finding out more about their genetic makeup. And perhaps we should all have our genome sequenced, once and for all?

Newborns are already being screened for some conditions that require treatment from infancy, so perhaps whole genome sequencing of newborns is the next step? And if we think it is a good idea, we need to ask ourselves if we should use our publicly funded health care systems to pay for it.

A group of researchers from a number of influential organizations published a policy statement in the European Journal of Human Genetics recently. According to them, we shouldn’t sequence the entire genomes of newborn babies.  At least not right now. The primary reason for newborn screening should be targeted analysis and identification of gene variants that confer a high risk for conditions that we know to be either preventable or treatable: If we start treatment when the child is newborn. Or at least in early childhood.

Heidi C. Howard (Link removed) , geneticists and bioethicist from the Centre for Research Ethics & Bioethics (CRB) is one of the authors. According to her, it is too soon to conduct whole genome sequencing on newborns. But it is also a question of money:

“Among other things, the costs would be much higher than what the health care system presently spends on newborn screening. We would have to re-think the consent. We would also have to figure out exactly what to do with all the data that it generates, says Heidi C. Howard.

There are several important groups and organizations behind the policy statement: The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform.

“All of these groups attempt to guide and lead stakeholders to use and apply genetics in the most responsible ways. The fact that they have all come together to support a more focused or targeted sequencing approach sends a clear message that the time for newborn screening using whole genome sequencing is not now”, says Heidi C. Howard.

Read the policy statement in the European Journal of Human Genetics: Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

By Josepine Fernow (Link removed)