Genomic Data Sharing: A Two-Part Series

NIH is committed to both the responsible stewardship of participants’ biospecimens and data.  Meeting our commitments protects the interests of research participants and ensures public trust in the biomedical research enterprise.  For biomedical research in general, policies and practices must strike a careful balance between the benefits of research and any potential risks to the study participants.  This balance will be covered in two separate blog posts about genomic data sharing:  Part I addresses promoting participant trust and permission for research and Part II, next week, will delve into the responsible sharing of genomic data for research.

Part I

Enhancing Consent and Participant Trust through the NIH Genomic Data Sharing Policy

One way to promote trust is to ensure that participants’ biospecimens, tissues and cells, and the information derived from them, are used in research only with their permission (consent).  Efforts to modernize federal regulations (i.e., the Advanced Notice of Proposed Rule Making to update the Common Rule) are focusing on the need to enhance research protections and reduce regulatory burden.  Some of the proposed reforms apply to research using specimens and data and include important changes to informed consent requirements.  NIH supports these reforms because seeking consent is respectful to participants and facilitates sharing of biospecimens and data in order to maximize the public benefits of research.

In fact, NIH is taking steps at a policy level to enhance consent in the context of NIH-funded large-scale genomic research.  In August 2014, NIH issued its Genomic Data Sharing (GDS) Policy, which outlines expectations for obtaining participant consent.   According to the GDS Policy, investigators who intend to generate large-scale genomic and phenotypic data from new collections of biospecimens and/or cell lines may only do so with the consent of the participants who provided those biospecimens and/or cell lines, even if the data generated are de-identified.  Further, NIH strongly encourages investigators who seek consent for research participation to also request consent for future research use and broad sharing of genomic and phenotypic data generated from the biospecimens or cell lines.

Last month, NIH released NIH Guidance on Consent for Future Research Use and Broad Sharing of Human Genomic and Phenotypic Data Subject to the NIH Genomic Data Sharing Policy, to provide guidance on consent expectations and information that can be tailored to individual studies and conveyed to prospective participants during the consenting process.  NIH has also posted a series of Frequently Asked Questions on consent for broad sharing (see Section H).

Why is NIH taking this approach to consent for sharing of human genomic data? First, studies of research participants’ preferences have taught us that participants expect to be asked for permission to use and share their de-identified specimens for research, and it is understandable why people might want to have some say in the use of their biospecimens. To preserve and even bolster public trust in research, it is critically important for the research enterprise to begin to respect the wishes of participants in this way.  Moreover, as has been well-documented, the risk of re-identification of genomic data is no longer a theoretical possibility.  As such, it is no longer tenable for us to hold that anonymization is still achievable or to allow the use of “de-identified” biospecimens without consent on the premise that such use is without some risk to the donor.  The evolution of genomic technology and analytical methods require us to acknowledge the risk of re-identification.

We believe that NIH’s expectation for consent under the GDS Policy is a step in the direction of continuing to earn the trust and respect of research participants.

For more information on the GDS Policy please visit the GDS website.

Stayed tuned for Part II – Genomic Data Sharing – Playing by the Rules to learn more about responsible sharing of data from NIH-funded genomic research.

Comments (2):

    The principle of “balancing” remains fundamentally flawed as known risks are compared with uncertain benefits. When one considers the movement away from consent standards developed post-Nuremburg and Helsinki, Part I of the new NIH policy makes some essential correction. The fact is that claims of “de-identification” conflict with the very assumptions on which “big data” in founded – thus it is clear that the expedience of abrogated consent is inappropriate. This is a welcome improvement which will help build public confidence.

    I feel genomic data needs to be shared as the USA health care system is like a 3rd world county of medical professional in the field ? Not to hell the patient and they do not honor the code they took in medical school “ do no harm” due diligence” I am a former RN and had to remove myself from nursing as I saw too many patients suffering needlessly and the hospital gossip of patients between doctors and nurses were just disgusting and I alone could never fix it !
    I have a rare platelet disorder under the rare disease network a autosomal dominant genetic from my Quebec,Canada father this Quebec Platelet Disorder is well researched in Quebec but Maine and FL there are no doctors knowing anything about it and too lazy to research as my health has deteriorated impacting all areas of my life and I choose to live apart from my family due to misery ! I keep researching but not getting far as my oncologist is RUNX1 specialist but he stated “NO” it is not related ? Well can that be when they keep finding new families pedigrees etc I am also Ashkenazi Jew = 2 founder effect genes

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