We must take baby steps into newborn genome sequencing

Some time in the next few days a new era in healthcare will be born. Doctors in Boston will sequence the whole genome of a newborn, the first of 240 babies to be fully sequenced. Afterwards, the infants will be monitored for at least five years. 

The experiment anticipates a time in the near future when whole genome sequencing is a standard part of neonatal care. The potential benefits are huge: parents and doctors will be forewarned about a range of genetic diseases over and above the 30 or so that are picked up by today's screens. Sequencing could save lives and cut healthcare costs. But the wider implications are unknown; hence the experiment.

Neonatal sequencing certainly raises some difficult questions. Although the Boston trial will only look for serious childhood illnesses, neonatal sequencing can also uncover information about more uncertain and long-term risks, such as genes that increase susceptibility for diseases that won't appear until later in life, if at all.

What are parents expected to do with such information? Routine neonatal sequencing risks overwhelming them – and their doctors – with information that is both hard to interpret and difficult to act upon.

The Boston team are motivated, in part, by the fact that private companies are champing at the bit to begin commercial newborn sequencing. It is easy to see how this could become a lucrative business. You might argue that selling newborn sequencing is little different from existing personalised DNA services offered by companies such as 23andMe.

But there is a clear distinction: newborns cannot give informed consent. Parents are rightly empowered to make medical decisions for their children, but sequencing is not like agreeing to a course of treatment. The child will eventually become an adult who may not want to know their genetic destiny.