19 September 2011
ByAppeared in BioNews 625
The first interpretation of a family's health risks using whole genome data has been carried out by US researchers.
The team, from the Stanford University School of Medicine, looked at the DNA sequences of both parents and two children in this, the second reported study of a four-person family of genomes. They then searched the data for errors to predict how genetic variants affect each family member's disease risks.
'With the continuing decline in the cost of genome sequencing, routine genome analysis could be the future of medicine', said Dr Euan Ashley, assistant professor of cardiovascular medicine and senior author of the study.
'The challenge is knowing what to do with the data because for each genome there are six billion data points', he added. 'So one of the things we started last year, though this is the first time we have managed to do it with a family, is work out what to do with the data and interpret it from a medical standpoint, because what is the point of all that information if we can't make a difference for patients?'
The previous analysis of a four-person family, published earlier this year, focused on finding the GLINK(1687, genetic)} basis of a rare disorder which affected the children in the group. However the latest study, published in PLoS Genetics, examined a predominantly healthy family, and searched through the entire genome.
Humans inherit one copy of each gene from each of their parents, and so studying the whole family's genomes allowed the researchers to determine exactly where variations in the genetic code had come from, improving the accuracy of the any interpretations made.
'Sequencing families leads to better genetic data and will be an important part of analysing genomes for medicine', said Dr Frederick Dewey, a cardiology fellow and postdoctoral researcher and lead author of the study.
Personalised genomics is set to play a major part in healthcare, and so another major outcome of this project was the development of better computational tools for the interpretation of genetic data – including disease-risk prediction and a better understanding of an individual's response to common medications.
Dr Rochelle Long, director of the National Institutes of Health Pharmacogenomics Research Network, said: 'This work pushes the boundaries of our understanding of personal genomes by adding the strength of family genetics to the technology. The advance promises a new era of personalised medicine - people will be able to make informed decisions about treatment based on individual genetic risks'.