The Generation Study: How are samples collected and processed?

There are three potential sample types that can be taken from newborn babies. One sample per baby is needed.

• The primary sample is blood taken from the umbilical cord just after birth. Parents are informed that this is not harmful to them or their baby.
• If a cord sample is not collected, blood is taken by pricking the baby’s heel. Parents are informed that this could cause momentary discomfort for the baby, and the practitioner will recommend cuddling or feeding the baby to help with this. This sample should ideally be taken before the baby is discharged from the hospital, but it can be taken within 28 days of birth. To avoid any confusion for staff or participants, it must not be taken on the same day as the NHS newborn blood spot sample.
• In some situations – for example, if a baby is in intensive care and cord blood was not collected – a sample may be taken from an indwelling line. This is at the discretion of clinical staff and in line with parental wishes.

If a woman gives birth at home, the midwife can collect a sample or the study team can schedule an appointment to have the sample taken soon after birth.

Trained NHS practitioners will collect one sample from each baby participating in the Generation Study. They will check that consent has been recorded and will also obtain verbal consent from the participant before taking any sample. They will follow guidance provided by Genomics England about:

• the equipment to be used for taking each sample;
• the process to be followed for obtaining each sample;
• procedures for labelling each sample with a unique code (which allows for tracking of the sample without using the baby’s name, so that only the hospital team and Genomics England can link the sample to the baby);
• storage of samples, including refrigeration;
• how to register samples for dispatch in the study’s online portal; and
• preparation of samples for safe transportation to the laboratories, which are run by external companies that extract and sequence DNA. They are commissioned by Genomics England and cannot access babies’ or parents’ personal details.

There may be circumstances in which a sample cannot be taken – for example, if the birth has complications, or if it takes place on an NHS site that is not part of the study.

In addition, parents can decide that they do not want a sample to be taken from their baby and that they no longer wish to be part of the study. They can let the study team know in advance, or inform the NHS practitioner at the time of birth. In these situations, the parents will be sent an email or letter to confirm that their baby is no longer part of the Generation Study.

• A blood sample is needed from babies participating in the Generation Study. This is usually a cord blood sample, though it can be from a heel prick or an indwelling line.
• An NHS practitioner must check that parents have consented to participate in the study, and must gain verbal consent before taking the sample.
• Genomics England provides training and guidance around the processes and procedures for taking, registering, storing and sending samples.
• In some cases, a sample cannot be taken or a parent may decide that they no longer wish to have a sample taken. In these situations, the baby is no longer part of the Generation Study.

For clinicians

• Genomics Education Programme: CPI: Generation Study: Recruit, enrol and sample
• Genomics Education Programme: CPI: Generation Study: Return results and further care
• Genomics Education Programme: CPI: Generation Study: Sample, sequence and interpret

For study teams at recruitment sites, there are numerous education and training resources available.

Please note that some of these resources are hosted on the Generation Study workspace on the NHS Futures platform. If you have not already had an invitation to join, please contact the Genomics England service desk: generationstudy@genomicsengland.co.uk.

Content may evolve over time. Should you have any issues accessing the content, please contact the service desk.

For patients

• Genomics England: The Generation Study
• Genomics England: The Generation Study Participant Information Sheet
• Genomics England: The Generation Study translated participant information