People want access to their “raw” genetic data – even if it does not tell them about the possible risk they have of developing disease or conditions, the annual conference of the European Society of Human Genetics will hear today (8 June, 2015).
The global study – the largest yet that looks at attitudes towards the use of genomic information – revealed that most people said they wanted access to their results if they underwent genome sequencing, regardless of the information contained within it.
Just under 7,000 people from 75 countries took part in an online survey, led by Dr Anna Middleton, a principal staff scientist at the Wellcome Trust Sanger Institute, Cambridge, UK.
“We asked participants to imagine that they were taking part in sequencing research with the option to receive personal results, and carefully explained the sorts of results that might come from a sequencing study in ten short films,” she said.
A total of 98% of participants said they wanted to know about genes that were linked to treatable conditions that were serious or life-threatening – even if the chance of developing the condition was as low as 1%.
“What was important to them was being ‘forewarned’ about their future risk of disease so that they could take steps to protect their health,” said Dr Middleton.
“This makes sense, but we also found that 59% of those surveyed were interested in having access to their own raw data, even though, on its own, it would tell them nothing useful about their future health. Participants perceived a value a value in raw data that may or may not exist.”
She said respondents thought that because the genomic information belonged to them, they should have access to it.
* Delegates have also heard at the weekend that new, sophisticated gene sequencing techniques will enable parents make informed reproductive choices.
Dr Christian Gilissen, assistant professor in Bioinformatics at Radboud University Medical Centre, Nijmegen, The Netherlands, told the conference he and his team have succeeded in determining that at least 6.5% of new mutations occur during the development of the child (post-zygotic) rather than from the germline of a parent.
“Currently, patients with a child with a disease caused by a de novo mutation are counselled that the risk of recurrence due to the same mutation in another child is between 1 and 5%, but if the disease is the result of a post-zygotic change, the recurrence risk will be extremely low,” said Dr Gilissen, whose research is published in the American Journal of Human Genetics.
Better information on the origin of new mutations will enable better information on recurrence risk, and will enable parents to make more informed reproductive choices.
* Elisabeth Gillis a PhD student in the Centre for Medical Genetics at Antwerp University Hospital, Antwerp, Belgium, told the conference that the discovery of new genetic mutation in aortic disease will allow better diagnosis.
She and her colleagues are the first to link a mutation in the TGFB3 gene with thoracic aortic aneurysm and dissection (TAAD), an enlargement or tearing of the walls of the aorta in the chest.
She said the discovery means that the TGFB3 gene can be included in diagnostic screening.
“Early identification of a risk of aortic aneurysm formation will allow us to implement preventive treatment with medication aimed at slowing down the process of aneurysm and, ultimately, replacement of the aorta before a significant risk of dissection arises,” she told the conference.
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