Frequently asked questions about Ethics and Consent

When a person signs the consent form this means that they have decided to take part in the Project. However ‘informed consent’ is about more than just signing a form, it is a process of information sharing and dialogue between the potential participant and the clinical team. This dialogue does not end when the person joins the Project, but continues throughout their time as a participant.

Taking informed consent means that a trained health professional has explained what participation involves. They are responsible for making sure that the potential participant has a clear understanding of the risks and benefits of taking part and what they are being asked to take part in. This information is included in the Participant Information Sheets which form the basis of the discussion between the potential participant and the healthcare professional. All participants in the 100,000 Genomes Project will have been through this process and this is what we mean by informed consent.

As with all research, participation is completely voluntary and there is no obligation to participate. If a person does decide to take part, they indicate this by signing the consent form. If a participant changes their mind afterwards and wishes to withdraw from the Project, then they don’t have to give a reason and they will continue to receive the highest standard of healthcare that is normally available.

The trained health professional will allow potential participants to ask as many questions as they want to. Professional guidance and training on how to take consent for the 100,000 Genomes Project is being provided by Health Education England.

The same principles apply in clinical care. Any patients undergoing treatment or having health tests should have these explained to them and their consent gained so the treatment or tests can be administered. The 100,000 Genomes Project is transformational in that it is both a research and clinical project. This hybrid model and its informed consent process has been approved by the National Research Ethics Service Research Ethics Committee for East of England – Cambridge South Research Ethics Committee.

NHS patients (and sometimes for their close blood relatives) will be invited to take part by the clinician that is treating them for their main condition after reviewing their medical records to see if they are eligible. For patients with a rare disease or a suspected rare disease this will usually be their clinician who will normally be working within a hospital-based clinical genetics service. Blood relatives of rare disease patients, such as parents or siblings, may also be invited to join the Project.

Patients with certain cancers will usually be invited by their oncologist.

Clinicians will ask suitable patients if they would like to join the Project, most likely when they are attending a routine medical appointment but there may be cases when NHS Genomic Medicine Centres run special clinics. Clinicians will explain the purpose of the Project and what participation will involve. Potential participants will have the opportunity to ask questions and will be presented with participant information literature which should help them to make an informed decision on whether they want to take part or not. Potential participants will be allowed to take away this literature and will be given as much time as they want to think about whether they want to join.

If a patient decides to take part then the next step will be for a trained healthcare professional to take consent. This could be their referring clinician or another member of their medical team. During the discussion, the attention of participants will be drawn to key elements of the Project and any risks. Only once a potential participant is content, and the person taking consent is confident that they understand what is involved by taking part, will the potential participant be asked to initial, sign and date the appropriate consent form.

At the start of the Project, consent will be taken by paper. However, we may move to an electronic consent process throughout the Project’s lifetime, via mobile devices such as tablets.

If a potential participant has been identified by their clinician as eligible to take part and decides to do so, the first step will be for consent to be taken. Once this has been taken they will be required to:

  • Donate a sample of blood (up to 3 tablespoons), and possibly some saliva if needed.
  • If they are a cancer patient, additionally donate a piece of their tumour collected during their normal cancer care
  • Provide details such as their date and place of birth, their ethnic group and gender, any family history of illness, any current illnesses, and current treatment
  • Allow Genomics England to record all clinical details about their condition including their medical history, any laboratory tests or imaging that has been undertaken as part of the investigation and treatment of their condition
  • Provide their contact details (including email address and mobile phone if applicable) so that members of their clinical team can make contact to ask further questions about their condition, health and their lifestyle, or to offer potential participants additional opportunities to participate in research
  • Agree that authorised staff from this Project may contact them directly to ask some further questions about their health and lifestyle. An example of this type of question might be whether or not they are a smoker.

Yes, the consent process will be the same for patients regardless if they have cancer or a rare disease. However the consent forms will be tailored to either cancer or rare disease because, for example, patients with cancer will be asked to give their consent for part of their tumour (that will be removed as part of their routine care) to be whole genome sequenced.

For family members of patients with a rare disease who are also participating in the Project, or other people giving consent for a potential child participant or advice about an adult potential participant’s wishes (where that adult lacks capacity), there will be a slightly different consent form to reflect their specific circumstance.

When a patient’s condition is suspected to be an inherited rare disease, then having the DNA of two close relatives is very helpful because all three sequences can be compared making it easier to pinpoint the exact problem.

If a rare disease patient is an adult and they have agreed to join the Project (or expressed an interest in joining the Project but want more time to consider), then their medical team will discuss with the patient which relatives would be most suitable to join. To be eligible, relatives must be first-degree blood relatives, ideally the biological mother and father but siblings, children and grandparents may also be suitable.

If the patient is accompanied to their medical appointment by relatives who are suitable to join the Project and they agree to join the Project after discussing it with the patient’s clinician or medical team, then consent could be taken during the appointment. If the relatives are not present, then the patient will be asked to pass on information about the Project.

Unaffected family members will experience the same consent process as patients with rare diseases, however the consent forms will be slightly tailored to reflect their specific circumstance. If the family member is a child, they will be involved in the discussion about taking part in the Project but ultimately, their parents (or whoever has parental responsibility) will make the final decision.

Yes, when a child who is enrolled in the Project reaches the age of 16 they will be asked to give their own consent as an adult to remain in the Project. Like any other potential participant, they do not have to take part and can withdraw at any point.

If a participant changes their mind and wants to withdraw from the Project then they are free to do so and this will always be acted on without delay. If there are any concerns, participants will be welcome to discuss those with their medical team at any time.

If a participant does decide to withdraw from the Project, they can request a withdrawal form from their medical team and they do not need to give a reason for this. The same process would also apply for parents who wish to withdraw their child from the Project, and for consultees wishing to advise that they believe a participant who lacks capacity would want to withdraw.

On the withdrawal form there are two options:

Option 1 – partial withdrawal: ‘no further contact’

  • We at Genomics England would no longer contact the participant directly.
  • The participant’s healthcare professional will still get an initial report about the rare condition or cancer.
  • They will ask the participant if they want to receive this. The healthcare professional will not get any further reports relevant to the participant’s healthcare.
  • Any samples already collected can still be used as part of the project.
  • Genomics England will continue to update and store information from the participant’s health and other records for use in approved research.

Option 2 – full withdrawal: ‘no further use’

  • Participants would no longer be in the 100,000 Genomes Project.
  • We at Genomics England will no longer:
    • contact participants directly;
    • collect or store anything further from the participant’s health records or other records;
    • allow research access to any samples including DNA (we will destroy these); or
    • allow research access to information that we hold about the participant. This information will be put beyond all further use. We will keep a minimum amount of information for auditing. See below for details of this.

The healthcare professional will still get the participant’s initial report about the rare condition or cancer. They will ask the participant if they want to receive this. The healthcare professional will not get any further reports relevant to your healthcare. Even if you choose option 2 – full withdrawal, it is not possible to:

  • remove data or samples from research that is underway or has already been done (any leftover sample is destroyed after the research is completed); or
  • remove all records of the participant from our databases. We need to keep an audit record to say that the participant was once part of the project and then withdrew. This includes their surname, first name, date of birth, address and contact details.

If a participant does want to withdraw from the Project, Genomics England would find it helpful to know the reason for this. These participants may be asked to volunteer to take part in a project looking at the reasons why people withdrew from the Project, but they don’t have to take part in this.

The NHS has arrangements in place for translation or interpreter services. This standard NHS service will ensure that information is available in suitable formats for all potential participants.

In nearly all situations, only living patients and their family members will take part in this Project. However, there may be specific situations where we would like to include samples and available health information from deceased people who were not participants in the Project before they died. This will generally be in situations where the equivalent information is difficult or impossible to obtain from a living person within the anticipated time frame of the Project (to the end of 2017). This may include where a deceased person affected by one of the disease groups included in the project has already left biobanked samples or health information as a legacy for use in further medical research.

Known as legacy collection samples, including samples of a deceased person in the Project may benefit living patients by increasing the number of samples available to researchers within a particular disease group. For example, where a child participant in the Project has a particularly rare form of cancer, other participants with the same condition are unlikely to be found in the time frame of the Project.

Biobanked samples and information can therefore be particularly precious to researchers in these situations and in this situation, deceased patients who donated these samples were clearly keen that they should be used to potentially help others after they themselves had died. The inclusion of relevant legacy samples in the Project will only be considered if it is judged they will add substantially to knowledge about the disease and that their inclusion does not breach the broad consent given by the deceased person when they were alive and they who donated their samples for use in further medical research.

If a participant dies after consenting to take part in the Project, then their consent to participate remains valid after their death. This provision on the consent form allows medical researchers to continue their research after the death, which increases the potential for new medical knowledge to be found. If relatives of the deceased person have a different view after the participant has died then this will be handled sensitively by the patient’s medical team and Genomics England. The relatives’ wishes will usually be taken in consideration.

Under the Mental Capacity Act 2005 in England And Wales, if a participant in the Project has been found by their clinical team to have lost mental capacity required to give their consent to take part in the Project after they have consented to join, then the patient’s clinical team will inform their NHS Genomic Medicine Centre, who will inform Genomics England of this.

Legally, a reported loss of mental capacity means that the consent given by a participant to take part in the Project is no longer considered valid. From the time Genomics England is informed of a participant’s loss of mental capacity then they must be removed from the Project. This means that no further data or samples will be collected from them. However, the information that has previously been collected about a participant (including information from their samples) prior to notification of their loss of capacity will still remain available for access by researchers in future, in line with the original consent that the person gave when they had the capacity to do so.

The NHS GMC clinical team will seek a consultee and they will be asked to advise on the wishes and feelings of the patient who lacks capacity. If the consultee’s advice is that the patient would want to re-join the Project, then a clinician will be able to re-enrol the person who lacks capacity as a participant in the Project, with the advice of the consultee being sought in relation any changes or activity that could affect the participant who lacks capacity (such as whether the participant might be content to give another sample or not).

If you live in Northern Ireland: The law says that the permission (consent) that you gave originally will always apply.