US genetic study to feedback results to participants

The All of Us study, which aims to sequence one million genomes in the USA, run by the National Institutes of Health, has announced it will inform participants of any health-related findings.

For the first phase, 155,000 participants who have consented to received information about the health insights gleaned from blood and DNA samples provided for the study, will be sent an invitation to receive their results. Those who chose to do so will receive an alert several weeks later that their results are ready. Participants, family members and their health care providers will have the option to meet with genetic counsellors to discuss results.

Josh Denny, chief executive officer of the All of Us Research Programme explained: 'Knowledge is powerful. By returning health-related DNA information to participants, we are changing the research paradigm, turning it into a two-way street – fueling both scientific and personal discovery that could help individuals navigate their own health.'

So far the study has recruited over 500,000 participants, placing it halfway to its goal. Participants who choose to access findings from their data can choose to receive information such as the Hereditary Disease Risk report, which demonstrates their biological risk for health conditions such as breast cancer or heart conditions through the analysis of 59 genes and gene variants. The Medicine and Your DNA report can also be accessed, which informs participants about how they process medication based on information taken from seven genes.

All of Us is fueling scientific discovery by promoting diversity. The programme aims to represent groups that are typically underrepresented in scientific research. Almost 50 percent of current participants are from a racial or ethnic minority group. Furthermore, among the first 500,000 participants, there were over 60,000 people with Hispanic ancestry: four times more than in any previous research study. Over time, the programme plans to sequence the genomes of one million participants across the United States.

Dr Alicia Zhou is the chief science officer of Color Health, the genetic counselling company of All of Us. She said: 'Returning information in research programmes is the ethical choice, but must be done responsibly and equitably, All of Us is setting a new precedent for longitudinal research programmes.'