Genomics in Palliative Care

Any patient can store a DNA sample, but this is particularly helpful if you have a suspicion that there could be a genetic factor contributing to their condition.

DNA Banking may be particularly helpful in the following scenarios:

• A patient has declined genomic testing
• A patient has been told there may be a genetic factor contributing to their condition, but there is no genomic test available currently
• A patient has a clinical diagnosis of a condition that can sometimes be inherited
• A patient has relatives who experienced similar symptoms to them
• A patient developed symptoms at a relatively young age

If a patient has genomic testing, their DNA sample will be investigated to try to identify genomic variants that could be the cause of their condition. If a causative gene variant is identified, the patient will receive a genetic diagnosis.

In DNA banking, the DNA sample will be stored by the NHS Genomics laboratory. However, no genomic investigations will be initiated.

If genomic testing is required in the future, this will be discussed with the patient/family prior to initiating testing. This is because it is important that the patient/family understands potential implications of genomic testing and gives informed consent before testing is activated

Arranging diagnostic genomic testing may not be appropriate when a patient is receiving palliative care. However, after a loved one has passed away, family members may wish to explore the possibility of genomic testing to understand their own risk of developing the condition. Sadly, many families are left disappointed as genomic investigations usually require a DNA sample from the deceased affected relative, meaning that testing is only possible if a DNA sample was stored in an NHS laboratory.

Storing a DNA sample from a patient receiving palliative care gives their family the possibility of genomic investigations in the future. If testing is performed and a genetic diagnosis is identified, this can bring several benefits to the family:

• Family members can better understand their chances of developing the same condition
• Asymptomatic relatives can seek predictive genetic testing to determine if they inherited the causative gene variant
• Individuals with the gene variant may be offered additional health screening or risk-reducing interventions
• Individuals with the gene variant may be offered reproductive options, preventing them passing the genetic variant to future children

Genomic testing can only be offered to patients who meet eligibility criteria outlined in the National Genomic Test Directory (NGTD). However, our knowledge and understanding of genomics is constantly improving and the NGTD is regularly updated. It may be possible for your patient’s stored DNA sample to undergo genomic testing in the future even if they don’t currently qualify for testing. It is important to ensure that patients and families are aware that storing a DNA sample does not guarantee that the family will be offered testing.

Our patient leaflet explains the benefits and limitations of DNA Banking.

Download patient leaflet (TBC)

It is important that the patient and their family understands the possible benefits and limitations of DNA Banking. It is especially important that they appreciate that storing a DNA sample now does not guarantee that they will be offered genomic testing in the future.

We recommend that you share our patient leaflet (add link) with the patient/their family.

They should also complete a consent form (add link) before DNA is banked.

We encourage patients to tell their relatives that a DNA sample has been banked so the family know where the sample is stored should it be needed in the future.

Before arranging DNA Banking, you should discuss the process with the patient/family. You can use the DNA Banking leaflet and Consent Form for DNA Storage to help with this.

You then need to complete a Non-WGS Rare Disease Order form and obtain a blood sample in an EDTA tube (purple top)

The Non-WGS Rare Disease Order form and blood sample should be sent to:

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

You can download a patient leaflet here.

We recommend sharing the leaflet before arranging DNA Banking.

It is helpful for patients to share the leaflet with their family members.

Before storing a sample of your patient’s DNA, you should take consent. If the patient lacks capacity, consent should be taken from an appropriate family member. Use the Consent Form for DNA Storage to record this discussion.

We recommend giving the patient/family a copy of our DNA Banking leaflet before taking their consent for DNA storage.

Download our DNA Banking leaflet

Download the Consent Form for DNA Storage

Use our Non-WGS Rare Disease Order form to send your DNA sample to the Genomics Laboratory.

You should write the R code ‘R346 DNA to be stored’ on the form. In the clinical details box write ‘DNA storage only’

You can download a copy of the Non-WGS Rare Disease Order form here

The sample should be collected in an EDTA tube (purple top)

Write ‘for DNA Storage Only‘

The Test Directory ID number (or R code) is R346 DNA to be stored

If the patient/family wishes to consider arranging genomic testing of the stored sample during the patient’s lifetime, they can discuss this with the patient’s medical team. The patient must meet the eligibility criteria outlined in the National Genomic Test Directory, and give their consent for testing.

If the family wish to consider testing the stored sample after their relative’s death, they can ask their GP to refer them to their local Clinical Genetics team.

We would recommend banking a DNA sample even the patient intends to donate their organs to medical research. Genomic testing usually requires a sample that has been processed by a NHS laboratory; research samples may not be subjected to the same rigorous controls.

If you can not find the answer to your question on this page, you can contact gstt.southeastglh@nhs.net for support.