Whole genome sequencing of babies
Bioethics Briefing Note
Which babies could have their genomes sequenced?
Seriously ill babies
When healthcare professionals have not been able to identify the cause of a baby’s ill health, whole genome or exome sequencing offers a way of searching simultaneously across large parts of the genetic code for genetic causes of disease.* The data can be filtered, with only the data that are likely to be relevant to the patient’s condition being analysed. This approach is being used in some hospitals in the UK, although it is not yet widely available across the NHS. This is likely to change after the completion of the Government’s 100,000 Genomes Project, which aims to create a genomics service ready for adoption across the NHS (see Box 1).
Box 1. The 100,000 Genomes Project
The UK’s 100,000 Genomes Project aims to sequence 100,000 genomes from adults and children who have rare diseases and cancer by the end of 2018. Some patients will receive a diagnosis through the project, but the project’s aims are to create a resource for research and to develop an infrastructure for genomic services in the NHS. To make this a reality, the Government’s Chief Medical Officer for England suggests we need to “embed national standards; streamline laboratories; and, in a secure environment, agree to use of data for our own benefit and others”.
Babies whose parents access commercial testing services
Parents of babies in the UK and elsewhere might be able to access whole genome and exome sequencing through commercial providers in the future. Whole genome sequencing is already available to adults through several US-based companies. For a fee of £700–£1,800, the companies claim to be able to provide information about the person’s predisposition to disease, medicines they might be sensitive to, and whether they carry any disease-causing genes that could be passed onto their children. Several companies (see: Baby Genes, My Baby Genome, and www.veritashealthystart.com/myNewborn) offer, or are planning to offer, newborn screening tests that search for large numbers of genetic conditions.
In the NHS, the newborn blood spot screening test is offered to parents of all newborn babies. The test looks for nine medical conditions, including cystic fibrosis and sickle cell disease. Some suggest that the programme should be expanded to include more childhood conditions, and that using whole genome or exome sequencing could become a cost effective way to achieve this.
* The usefulness and implications of whole genome sequencing of newborns is being explored in a US$25 million study funded by the National Institutes of Health in the US. The Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) study involves four hospitals and is running for five years from 2013.