Families seen by Clinical genetics for inherited blood cancer risk V1
Research type
Research Study
Full title
A study to elicit the views of individuals at risk of inherited blood cancers who have received care from a Clinical Genetics Service
IRAS ID
339645
Contact name
Nancy Whish
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 4 days
Research summary
Research Summary
Everybody has unique DNA inherited from their parents. Cancer can develop when the DNA in some cells changes so that our bodies can no longer follow the instructions that keep us well. This means the DNA in cancer cells is different to the DNA in the rest of the cells in our body.
When someone has a cancer, genetic testing to see what DNA changes caused their cancer to develop helps to inform treatment.
However, sometimes a change is found that is present in an individual’s inherited DNA and has been there all their life. This is called a germline variant, and can be passed on in families. Some germline variants can cause an increased chance of getting cancer during a person’s lifetime, compared to the general population.
This type of genetic testing following blood cancer diagnosis is happening more across the NHS. As well as identifying results that help to guide treatment, sometimes a germline variant is found, meaning other family members might be at risk of getting a blood cancer in their lifetime if they have inherited it. Healthcare professionals in Haematology and Clinical Genetics services see these patients to explain this information to them and their families.There is not much information about how patients feel about this genetic testing and what their experiences have been.
This study aims to understand what the experience of genetic testing is like for people with blood cancer and their families, and answer questions such as:
What is their recall of the information given to them throughout their cancer treatment about genetic testing?
What was their experience of seeing a healthcare professional to discuss their genetics assessment?We hope that hearing the patient’s voices and understanding their experiences will help to improve care for these patients and families in future.
Lay summary of study results
Telephone interviews were conducted with 5 participants. All participants were individuals with a diagnosis of blood cancer or their relatives who were seen by the Cambridge Clinical Genetics service because of their family history. The aim of the study was to increase our understanding of people’s views about the genetic testing and genetic counselling they received, specifically in the context of inherited blood cancer.
The interview transcripts were analysed to understand the views and experiences participants expressed. We grouped similar participant views which led to the development of the themes and subthemes shown below.
1. Fear and uncertainty
a. Family history of cancer
b. Concern for relatives
c. Limited knowledge and support
2. Sensemaking
a. Better to know
b. Acceptance
c. Change in perspective
3. Thinking of others
a. Family
b. Research
These themes give us a better understanding of the thoughts and feelings participants had about their genetic testing experience. The views expressed by participants in this study seem to overlap with those expressed by individuals at risk of other types of inherited cancer in other studies. However, there were also views expressed that seem unique to individuals at risk of inherited blood cancer, such as the perceptions that less is known about blood cancer and that less support may be available compared to other types of cancer.
How patients and their relatives feel about genetic testing for blood cancer is an under studied area of research. We hope this study leads to further research in this area.REC name
East Midlands - Nottingham 2 Research Ethics Committee
REC reference
24/EM/0123
Date of REC Opinion
22 May 2024
REC opinion
Further Information Favourable Opinion