NHGRI Updates Patient Consent Guidance for the Precision Medicine Age

By Bio-IT World Staff

February 4, 2015 | The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, today announced a broad revision of its Informed Consent Resource. This online tool is widely used by researchers designing new studies that involve collecting DNA data from patients. The NHGRI’s formal consent requirements, and informal consent recommendations, have a huge influence on the way research subjects are included in decisions about how their data can be used and shared over time, thanks to the Institute’s funding power in academic genomics.

In its news release announcing the changes, the NHGRI cites the Precision Medicine Initiative introduced last week by President Obama as driving the future direction of patient involvement in genomic research. The centerpiece of the Precision Medicine Initiative will be the creation of a unified cohort of at least one million patients, all of whom have consented to share their anonymized clinical and DNA data for a broad range of studies at various research institutions. Patients in this cohort might be recontacted to collect new types of data or update their health information, and would be treated as both data donors and active participants in research. National Institutes of Health Director Francis Collins said that this cohort will “set the foundation for a new way of doing research through engaged participants and open, responsible data sharing.” (See, “Obama Announces $215m Precision Medicine Investment for NIH, FDA.”)

Creating a unified database for such a large cohort, in part by uniting many smaller cohorts from existing research programs, presents both technical and ethical challenges. DNA data is almost impossible to fully anonymize, and could have immediate health implications for both research participants and their families. At the same time, the expense of collecting this data, the complexity of interpretation, and the importance of very large sample sizes to draw meaningful conclusions about genomic health all come together to create a need for broad and open data sharing across the scientific community.

Even before the Precision Medicine Initiative was announced, the NHGRI has taken a stronger stance on genomic data sharing in recent months. In crafting its Genomic Data Sharing Policy last August — which replaced a softer seven-year-old policy on genome-wide association studies — the Institute for the first time stated that “investigators are encouraged to seek the broadest possible sharing permissions from participants for future research use of their data.”

The revamped Informed Consent Resource reflects the higher priority NHGRI now places on engaging participants in multiple, evolving studies over long time periods. The Resource includes sample language for informing patients about the risks of participation and the full spectrum of data that may be shared with other research groups, outlines specific cases where data sharing restrictions might be considered, and suggests appropriate ways patients can be approached for consent.

The full Informed Consent Resource can be found here.