Family gene maps could pave way for identifying future health risks

WHOLE families could one day have their genes analysed to map accurately their risk of disease, potentially helping them avoid future health problems, a Scottish researcher believes.

A new study, looking at the genetic make-up of four members of the same family, also found the information could be used to decide what treatments are best for patients facing health problems.

With the cost of studying genetic profiles falling dramatically, researchers from Stanford University in California believe that people could one day use the technology routinely as part of their medical records.

Professor Euan Ashley, senior researcher on the study, said the new research allowed them to predict more accurately the risk of disease compared to looking at an individual in isolation.

The Scotland-born cardiologist, who trained in Glasgow but now works in the US, said he believed such technology could be “the future of medicine”.

For several years, researchers have been trying to harness the potential of genome sequencing – mapping a person’s entire genetic make-up. But the extent of the information available has made it difficult to identify what might be most useful.

Dr Ashley said: “The challenge is knowing what to do with the data because for each genome there are six billion data points.

“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 researchers focused on the genetic profiles of four members of the West family from California.

The father, John, had suffered a clot in the lung twice. Researchers found two variants in his genome that could lead to blood clots. When they looked at his daughter Anne, they found she had inherited the same two variants from her father, and a further variant from her mother which also increased the risk of clotting.

“We were able to tell Anne at 18 years old that she was at significant risk and could make significant changes to her lifestyle to try to avoid what happened to her father,” Dr Ashley said.

The human genome carries two copies of each gene – one inherited from each parent.

With the genomes from one family, the researchers – writing in the journal PLoS Genetics – were able to show which parent gave each copy of the gene to their offspring. This allowed them to calculate more accurately the severity of health risks when many genetic variants were found together.

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.”