Ethics in WGS

What is Genome-Wide Sequencing (GWS)?

Genome-wide sequencing (GWS) is a genetic test that can look at all of a person’s genetic code (or DNA). GWS includes ‘whole genome sequencing’ and ‘whole exome sequencing’. Whole exome sequencing (WES) looks only at the genes that contain the code to make proteins. These protein-coding areas are vital to how the body functions but only make up around 2% of our genetic code. Whole genome sequencing (WGS) looks at all the genetic code. WGS includes, for example, the parts of our DNA that help organise how and when proteins are made.

Another type of genetic screening is called targeted sequencing. Targeted sequencing is different to GWS as it only looks at certain genes or groups of genes and not all the genetic code.

 When are genetic tests used for screening?

The purpose of screening is to find people who are at a higher risk of having a condition, but who don't have symptoms yet. Screening is different to diagnosing conditions in people who have symptoms.

·GWS is not currently used in the NHS for screening healthy people (people with no symptoms of a condition).

·Targeted genetic screening is used by the NHS in screening for specific health conditions.

·GWS and targeted genetic tests can both be used to help doctors diagnose conditions in people who have symptoms.

 Why are we looking at GWS in newborn screening?

The UK National Screening Committee (UK NSC) make independent recommendations to the Government about national screening programmes. They are currently considering whether the NHS should use GWS in newborn screening. The UK NSC want to understand what the ethical issues might be if GWS was used.

Currently, most newborn babies in the UK are screened for 10 rare conditions. There is growing interest in using GWS to screen babies for many more rare conditions. One benefit of this is that GWS could identify babies who have rare conditions more quickly - often before they have symptoms. Where there are treatments available for a condition, earlier diagnosis and treatment can often give these babies a better quality of life.

Several research studies - in the UK and internationally - are testing GWS in newborn babies. But there are many ethical concerns about using GWS in newborns. Some of these concerns are relevant to newborn screening in general. For example, what information do parents need to help them decide whether to have screening for their baby? Other ethical concerns might be unique to, or a bigger concern for, GWS. For example, GWS creates a lot of genetic information: who owns this information? And, who decides who can use it, and how?

How are we doing this review?

We will look at the range and type of ethical issues that are mentioned in scientific papers published from 2021 onwards. We have two advisory groups to help us get this right. One group includes experts in genetics and ethics. The other group will include members of the public and family members of - and people with - rare conditions. The groups will help sense-check what we do and point out where there might be missing information or different viewpoints. They will also help us with interpreting and reporting what we find.

We will write up our findings in a report for the UK NSC and publish it as a research paper. Our report, along with the results of other studies, will help guide the UK NSC in making recommendations about using GWS in newborn screening.