The British government announced that Genomics England will sequence 100,000 genomes by 2017, following which a survey of nearly 7000 people was carried out. This survey has brought about an important and on-going conversation about how our genomic data is used. In the survey nearly 7000 people took part and its results reveal that 98% of them want to be informed when researchers using their genetic data find out indicators of any serious preventable or treatable disease.
The survey was a part of the Deciphering Developmental Disorders (DDD) project, which aims to find genetic diagnoses for rare developmental disorders using patients’ sequence data.
It is interesting to note how genomic data has a perceived value even for the common people, even though it is not clear what the information will mean from the health perspective. Generally, it was seen that people were interested in clinically actionable data and those from the genetic field taking part in the survey were concerned about returning data that cannot yet be deciphered accurately.
Dr. Anna Middleton, first author from the Wellcome Trust Sanger Institute said that with the advent of fast and efficient genetic sequencing medical research has undergone huge transformation over the past decade and it is all set to revolutionize clinical care in the future. She opined that policy surrounding the use of genetic data in research and clinical settings must take into account the views and experiences of the public, patients, clinicians, genetic health professions and genomic researchers.
The participants in the survey were drawn from 75 countries around the world. Most of them wanted to receive information about serious conditions, even if the risk of developing the condition was as low as 1 per cent.
Alastair Kent OBE, Director of Genetic Alliance UK, a charity that works to improve the lives of people affected by genetic disorders said that when the participants were asked how much they wanted to know about their genetic information, their immediate reaction was anything the clinicians find they want to know. But, the problem is there is no one size fits all in this case. Whenever communicating any information to them, it is important that enough information and support is available to let individuals make an informed decision about whatever the case maybe. Since, the information belongs to the individual; it is their right to know about it and for that it should be first decided how it is to be recognized.
However, the genetic health professional surveyed were mostly of the opinion that information of clinical importance should not be shared. Dr. Helen Firth, an author from the Department of Clinical Genetics at Addenbrooke’s Hospital said that genetic health professionals are acutely aware of the challenges posed by interpreting genetic information accurately and communicating results to patients. Having key indicators for a disease in your genetic code does not necessarily mean that you will develop that disease. A lot of information in our personal genetic codes is currently not decipherable and is of uncertain clinical significance. Only years of research can unravel the mystery of genetic codes. When such knowledge is gained, this survey will help researchers and health policy makers to plan accordingly.
The DDD project did not search this data for disease indicators and only returned results likely to be linked to the patients’ disorders. This fits well with the findings of the survey too. Agreed, participants were interested in learning about their genetics however, the majority did not expect the researchers to actively search for key indicators of disease in genomic data.