The Generation Study: How do participants provide consent and how is it recorded? 

The Generation Study is approved by the Health Research Authority, and follows its principles for consent in research. This means that consent must be given by someone who:

• has capacity to make the decision for themselves;
• has made their decision voluntarily and without coercion; and
• has been adequately informed about the study in order to make a fair choice.

It is important to note that consent is a process, not a one-off event. An informed choice is built on opportunities to become aware of research, resources to enable consideration and discussion, and continued communication over time.

There is a range of ways in which parents might hear about the Generation Study and/or be approached by their hospital study team (more information about the recruitment process can be found in The Generation Study: Recruiting participants). Once someone decides that they wish to take part, they will be required to sign up with a member of the study team at their hospital site, who can register them as a participant before their baby is born.

Participants must agree to all elements of consent for the study and make an overall decision to take part. This means agreeing to their baby’s sample being screened for over 200 rare genetic conditions with results returned, as well as their baby’s sample and genomic and health data being stored in the long term and made available for wider research.

Resources like the study website and Participant Information Sheet must be reviewed before giving consent. These resources aim to maximise the effectiveness of conversations with the study team and to support the parents in making an informed decision. They provide:

• general information about the study;
• advice about what parents and their baby can expect; and
• guidance about the potential benefits, risks and uncertainties that could arise.

Staff at recruiting sites undergo training to ensure that they can facilitate informed choice. This is underpinned by a Clinical Pathway Initiative (CPI), and includes using communication skills to elicit parents’ understanding, expectations and concerns about the study and appreciating the range of factors that can influence an individual’s choice to take part.

Like any research, there are pros and cons to joining the Generation Study. The benefits and risks are highlighted to parents on the study website and in the Participant Information Sheet.

Benefits

• Babies can access early screening testing for over 200 genetic conditions. Babies who are suspected to have a condition could access early treatment and care, which could improve their future health outcomes.
• Participating parents and babies join a community of fellow participants, which in itself can help improve care and treatment.
• Taking part helps researchers to learn more about the links between genomics and health and better predict and/or diagnose conditions in the future.

Risks

• Babies can feel momentarily uncomfortable if a heel prick sample is taken.
• There is a small chance that an incorrect ‘condition suspected’ result could be returned (meaning that parents are incorrectly told that their baby is suspected of having a genetic condition).
• Parents and families can feel uncertainty and worry regarding results. It can take time to clarify a ‘condition suspected’ result with follow-up tests in the NHS.
• Participants could potentially be identified by a researcher through their data, although there are a number of safeguards in place to make this very unlikely.

There are 11 consent statements that outline what parents agree to when they join the Generation Study. They focus on the following information.

• The study is for research. It is optional and separate from standard NHS care, including the recommended NHS newborn blood spot test. Like any health research, there are benefits and risks to joining.
• The baby’s other parent should be involved in the decision to participate, if this is appropriate and they are in contact.
• Genomics England will test their baby for genetic variants associated with more than 200 rare genetic conditions that can be treated in the NHS during childhood.
• An NHS staff member will collect a blood sample from the baby after birth, which is used to sequence their DNA. Parents can decide not to have the sample collected at the time of birth and can withdraw from the study at any time.
• Parents will be contacted with results. If a condition is suspected, an NHS specialist will contact them in person. If no conditions are suspected, participants will receive an email or letter.
• If a ‘condition suspected’ result is returned, it is not a diagnosis and must be confirmed by further tests. Study results come with uncertainties, and the NHS specialist who returns the result will share information about the case with Genomics England to help with the test evaluation.
• Genomics England will securely store samples and data, including the baby’s sample and DNA sequence, updates from their healthcare record and the mother’s antenatal data.
• Data and samples will be used for healthcare research. Approved researchers (who could come from charities, universities or healthcare companies) can access the data.
• Participants will be contacted during the study, via Genomics England, to share updates and further opportunities to take part in research.
• Participants can withdraw from the study whenever they choose, though if their data has already been stored or involved in research it cannot be deleted.
• When the newborn approaches 16 years of age, they will be approached by Genomics England to ask if they wish to remain part of the study.

The Generation Study uses an online portal to register consent. A trained member of a hospital study team will guide the participant through this to gather relevant information and confirm their decision to consent. They must confirm that the participant has made their decision in line with the principles of consent. This process can be conducted face to face or over the phone, and must be completed before the baby is born. Any discussions should also be documented in local patient notes, as per standard clinical practice.

Once a participant has registered, a copy of the consent statements is shared with them via a welcome letter (sent by email or post), and a copy is saved locally in their healthcare records. The welcome letter also explains what happens next in the study, including how samples are collected.

• As in all research, consent in the Generation Study must be given by someone who has capacity to make the decision for themselves, has made their decision voluntarily and has been adequately informed.
• Parents must agree to 11 consent statements in order to take part in the study. These include their baby’s sample being screened for over 200 rare genetic conditions with results returned, as well as their baby’s sample and genomic and health data being stored in the long term and made available for wider research in genomics and health.
• A trained member of a hospital study team must confirm that a participant has made an informed choice to consent to the study. This can be done face to face or over the phone, before the baby is born.

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