Will patients act on results of germline genome sequencing?

Australian study reveals what people will do if they find out they have an increased heritable cancer risk
Clare Pain
genome sequencing

People with cancer and their relatives awaiting germline genome sequencing show high levels of intention to modify their behaviour if a gene variant linked to malignancy is detected, an Australian study shows.

But many of them have an incomplete understanding of  germline genome sequencing (GS), over-estimating the likelihood of obtaining an actionable result, the Australian researchers say.

The study examined a subset of people enrolled in the Genetic Cancer Risk in the Young study (RisC) that recruits patients with a malignancy who are considered likely to have a genetic predisposition for the condition.

All 348 patients had either been diagnosed with cancer before the age of 40; had two cancer diagnoses before the age of 50; or had been given three separate cancer diagnoses to date.