The Genomics Conversation project aimed to capture the opinions, aspirations and concerns of individuals with rare diseases and cancer regarding the implementation of genome sequencing into routine clinical services.
This project was funded by Genomics England and it follows on from the work of our previous projects capturing the views of people living with a rare disease, cancer, or undiagnosed genetic conditions.
The focus of the project was on the implications of the use of people’s own personal genomic data within healthcare and beyond. From the results of the project, we produced a report to be used by Genomics England to guide how they manage data regulation.
WHAT IS GENOMIC SEQUENCING?
Genomic sequencing technologies can determine the exact order of letters – As, Cs, Gs and Ts – along a piece of DNA. Whilst ‘traditional’ DNA sequencing methods involve the analysis of one gene after another to try and identify where a genetic alteration may be, new methods are allowing multiple genes to be sequenced simultaneously as well as an individual’s whole genome.The information provided by new genomic sequencing methods could aid diagnostic testing, targeted treatment, gene therapy and the production of therapeutic proteins.
These technologies are in the early stages of being introduced to genetic laboratories and in 2013 the UK Government committed to introducing new genomic sequencing into mainstream clinical practice.
Genomic sequencing offers great potential for the effective diagnosis and management of many genetic conditions yet it raises many ethical and societal issues that are important to patients and their families, who will be the end-beneficiaries of such technologies.
WHAT WE FOUND
Expectations and concerns
We asked respondents about their expectations of taking part in the 100,000 Genomes Project. The majority of people with a genetic condition do not have a treatment or cure, this was reflected in the responses we received. Respondents told us that they would hope for the research to lead to new treatments being available for people with their condition.
Respondents were also interested in gaining information about their family’s risk of developing the condition, and their own reproductive choices as a result of their risk of passing it on to their children.
We also wanted to know what, if anything, respondents would be concerned about if genome sequencing was integrated into the NHS. There is great potential for patients with rare and genetic conditions from this type of technology being integrated into the NHS, so it was unsurprising that the most common response we got to this question was that respondents had no concerns about genomics being integrated into the NHS.
After this, the two most common answers were around NHS capacity, and misuse of data. The NHS will need to be fully resourced to be able to deliver whole genome sequencing to all patients that require it. This includes training for those delivering results as it is extremely complex information, as well as increasing capacity for genetic counselling within the health service.
Data sharing and the regulatory framework
We found that respondents were generally in agreement with current systems in place to oversee data sharing for genetic and health data collected through the 100,000 Genomes Project. They told us that data should be overseen by an independent panel made up of research experts, healthcare professionals and patient representatives – which is currently the case.
While most respondents showed some trust in pharmaceutical companies, a sizable minority said that they would not share their data with pharmaceutical companies. The most common reason for this was the incentives behind the research which they believed to be profit and commercial gain. Many respondents felt that when there is profit to be made, patients are not put first.
When asked what respondents would most like to gain from taking part in research such as the 100,000 Genomes Project the majority (89%) of our respondents said that that they wanted to contribute to a better understanding of genetic conditions and cancer.
Our cohort of respondents were very keen to hear updates about the research that their samples were used in, even when this would not affect their day to day care. 67% of respondents felt that they had a responsibility to share their genomic data with researchers. Many of the respondents expressed their desire to help advance knowledge, having either previously or currently experienced a situation where their medical team did not have enough information to give them a diagnosis or effective treatment.
We want to empower patients by making sure everyone diagnosed with a rare or genetic disease has access to the right information and the right support. Respondents told us that when they were first diagnosed they wanted information about treatments, their prognosis and their reproductive options and family risk. 73% of our respondents said that they would find it useful to be in contact with other people with the same condition as them.
At the moment, it seems that it is extremely common that patients and their families resort to self directed online research to find the answers to these questions rather than having appropriate support from a charity or peer support group and where they did manage to find support from these types of group, they found it through searching the internet themselves.
FIND OUT MORE
If you would like to find out more about the project you can email our Public Engagement Manager, Mariana, or call our office on 020 7831 0883.