Data Shows People Want To Know What’s In Their Genome
Results of the world’s largest survey of public attitudes towards genomic data have been published.
The European Journal of Human Genetics has published a study on attitudes towards the return of incidental results from sequencing research. The discussion around the reporting of incidental findings has gathered momentum recently with the advancement of high profile, large scale, sequencing projects.
The survey was part of the work being carried out by the Deciphering Developmental Disorders (DDD) project, based out of the Wellcome Trust’s Sanger Institute. From approximately 7000 participants, 98% stated that they wanted to be informed if researchers came across incidental findings of clinically actionable conditions.
“The advent of fast, efficient genetic sequencing has transformed medical research over the past decade and it’s set to revolutionise clinical care in the future,” says Dr Anna Middleton, first author from the Wellcome Trust Sanger Institute. “Policy surrounding the use of genetic data in research and clinical settings must be directed by the views and experiences of the public, patients, clinicians, genetic health professions and genomic researchers. This study represents a first step in informing people of the issues and gathering their responses.”
Where a serious condition may be involved, people are very eager to find out if they’re at risk. Even if that risk is only 1%. At the launch of Genetic Alliance UK’s patient charter on sequencing, we heard that patients want to be as informed as they can be. Even if that is just knowing that further tests need to be carried out to see if something is a cause for concern or not.
“When we asked patients and families how much they want to know about their genetic information their immediate reaction was that whatever information the researchers or clinicians found out, they wanted to know too,” says Alastair Kent OBE, Director of Genetic Alliance UK. “But there can be no one size fits all. We need to make sure that there is enough information and support available to allow individuals to make an informed choice about what is right for their situation. We need to remember this information belongs to the individual and they should be able to decide for themselves what they do and don’t find out about their health – which means we need to start thinking about how this can be recognised.”
There is a balance that needs to be achieved. Patients want to know as much as they can, but not all that information will be helpful. Some information might be quite distressing if not understood correctly.
The study had another interesting result: genetic healthcare professionals were five times more likely than other groups to think that incidental findings should not be shared.
“Genetic health professionals are acutely aware of the challenges posed by interpreting genetic information accurately and communicating results to patients,” explains Dr Helen Firth, an author from the Department of Clinical Genetics at Addenbrooke’s Hospital. “There are still so many unknowns; having key indicators for a disease in your genetic code may not necessarily mean that you will develop that disease. Much of the information in our personal genetic codes is currently uninterpretable and of uncertain clinical significance. It will take many years of research before we know how to use much of this data for clinical benefit. As this knowledge is gained, our survey will help researchers and health policy makers to plan accordingly.”
The publication of the survey result is an important step in this debate. It eliminates the reliance on arguments based on assumptions.With genomics on the verge of major integration into healthcare, there is still a lot to be discussed. One thing is certain however – genetic counselors will have an increasingly important role to play in the process and will need to be given greater consideration in many of these discussions.
If you would like to take the survey yourself, it can still be accessed here.
Back in December, we had the fantastic opportunity to visit the Wellcome Trust Sanger Institute to interview Dr Anna Middleton for the launch issue of our magazine. We were also lucky enough to feature and interview with Alistair Kent of Genetic Alliance UK in issue two.