If a researcher using your genetic data stumbled upon an indicator that you were at risk for a serious preventable or treatable disease, would you like to know? If so, you are in strong company. A new survey shows that 98 percent of people would like to be informed of their threat of disease in this scenario.
The study of nearly 7000 people, which comes after the announcement that Genomics England will sequence 100,000 genomes by 2017, begins a relevant and on-going conversation about how our genomic data is used.
“The advent of fast, efficient genetic sequencing has transformed medical research over the past decade and it’s set to revolutionize 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.”
The findings were drawn from 75 countries around the world. The majority of participants wanted to receive information about serious conditions, even if the risk of developing the condition was as low as one percent. However, fewer people were interested in receiving results for less serious conditions.
“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, a charity that works to improve the lives of people affected by genetic disorders.
“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 recognized.”
Of the interest groups surveyed, genetic health professionals were five times more likely than other groups to think that incidental findings (results that are not the main focus of a study but may be of clinical importance) should not be shared. Both genetic health professionals and genomic researchers were more likely to think that information about ancestry should not be shared.
“Genetic health professionals are acutely aware of the challenges posed by interpreting genetic information accurately and communicating results to patients,” says 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.”
Source: Wellcome Trust Sanger Institute