The European Journal of Human Genetics has published the results of the world's largest survey of public attitudes towards genomic data. The advancement of high profile, large scale sequencing projects has created a discussion around the reporting of incidental findings. We refer to the detection of alterations that can be classified as pathological but being in genes that are unrelated to the pathology for which the test is indicated and which have not developed symptoms.
Decipherings Developmental Disorders project from the Wellcome Trust's Sanger Institute was carrying out the survey with approximately 7000 participants.98% stated they wanted to be informed if a research came across incidental findings.
Dr. Ann Middleton from Wellcome Trust Sanger Institute referred to these results: “the advance of fast, genetic efficient sequencing has transformed medical research over the past decade and it's set to revolutionise clinical care in the future.” Dr. added: “policy surrounding genetic data in researches must be directed by the views and experiences of the public, patients, clinicians, genetic health professionals and genomic researchers.”
In the case of being at risk for a serious condition, we usually want to know that risk from the very beginning, even if that risk is low. Detecting conditions early can be very important, that's why patients demand to be informed as soon as possible.
The director of Genetic Alliance Uk, Alastair Kent, also referred to the results of the survey: “When we asked patients how much they want to know about their genetic information, they immediately responded that whatever information the researchers found out, they wanted to know too. He also added that “we need to remember this information belongs to the patient, and we need to make sure there is enough information and support available to allow patients make an informed choice about what is right in every scenario.”
The survey shows another interesting result: genetic healthcare professionals were five times more likely to think that incidental findings should not be shared.
Dr Helen Firth from the Department of Clinical Genetics at Addenbrooke's hospital explained this fact: Genetic health professionals are aware of the challenges posed by interpreting genetic information accurately and communicate results to patients. There are still many unknowns. Having key indicators for a disease in your genetic code may not necessarily mean that you are going to develop that disease.”
The release of the results is an important step in this discussion. It eliminates the reliance based on assumptions. With genomics everyday closer of a major integration into healthcare, there is a lot to be discussed. Genetic counselors will have an increasingly role to play in the process and will need to be given plenty of consideration in many of these discussions.