Ethics

We have considered the issue of consent very carefully, as this is a complex long-term study with a range of uncertainties. We regard consent as a process and not a one-off event. This is a research study and not a clinical test, and like any research study, participation is entirely optional, and participants can withdraw. Parents have several opportunities to make a decision about participation before their baby is born.

Our consent approach has been informed by consultation with our Newborns Ethics Working Group and extensive co-design with parents and healthcare professionals. By taking part, parents are consenting to the study looking for specific rare genetic conditions in their babies for early intervention. We will also store data over the long term. This is to enable us to evaluate our approach and learn more about genes and health through ongoing research.

Parents will be invited to take part in the study from mid-way through pregnancy. They will be provided with a range of resources and support including a participant information sheet, details of the website and access to trained staff at NHS sites. These aim to maximise the opportunities for discussion and prepare for the potential results and uncertainties that could arise from the study.

While parents initially decide to take part in the study on behalf of their baby, we know that it’s important for children to be appropriately involved in discussions and decisions about their health and data as they grow older. We will contact participating children when they are around 16 years old to ask if they’d like to remain part of the study – and they can make their own choice to continue or to withdraw.

We have taken great care in choosing the conditions that we are going to look for in the Generation Study. Our decisions have been guided by four key principles which were developed following consensus with working groups and public involvement. This included discussion of the ethical issues such as the need to consider the potential benefits and harms of looking for conditions with different ages of onset, evidence of effective intervention and equity of access to treatment.

It is also important that we take steps to minimise incorrect results and monitor this throughout the study. This includes false positives (where we suspect a condition that turns out not to be present) and false negatives (where we don’t detect a condition when it is present).

The Generation Study has been carefully designed not to interfere with current NHS care, including the Newborn Blood Spot test (also known as the ‘heel prick’ test). The Newborn Blood Spot test is offered to all babies when they’re around 5 days old and tests for 9 rare, serious and treatable conditions.

We have worked closely with the UK National Screening Committee and NHS England to ensure we minimise and monitor any impact on existing screening. Our study materials and training emphasise the importance of continuing to arrange tests or referrals, as appropriate, based on a baby’s medical or family history.

We want to ensure that we carefully monitor and minimise the impact of this study on the NHS and evaluate cost-effectiveness. This forms a key part of the study. Participating NHS Trusts and NHS Genomic Medicine Service Alliances will also receive additional funding to support key roles and requirements for delivering the study.

Receiving the news that a baby may have a rare condition can be a very stressful and difficult experience for families. An incorrect or inconclusive result can cause further worry. It is critically important that counselling support is available to families taking part in the study, to help them adapt to any results and minimise potential risks.

Our Newborns Ethics Working Group and working group on communicating results and onward support gave guidance as we designed safe processes and resources for families, including access to study-funded genetic counselling and support from patient organisations.

Psychological support will be provided to families who require it. We will work with our charity partners in providing this support. Parents can also contact Genomics England for queries or support at any time by contacting our service desk.

The protocol for the Newborn Genome Programme’s Generation Study was approved by the Health Research Authority (HRA) in spring 2023, following a favourable opinion by the Cambridge Central Research Ethics Committee.

Applying to the HRA is a requirement for all research involving patients. If the HRA does not approve a study, it cannot proceed. A favourable opinion from a Research Ethics Committee is integral to this approval.