Table 1.

Highlights of Individual State of the Science Presentations

Laura Lyman Rodriguez, PhD-Keynote Speaker Office of Policy, Communication and Education, NHGRI/NIH	Is it or Isn't It? Evolving Policy Considerations Regarding Genomic Data and Identifiability
	• Noted 2006 NHGRI sponsored a meetingthat highlighted various definitions for “identifiable”19
	• Reviewed past and current data-sharing policies
	• Commented on the impact and availability of recent high-throughput sequencing technologies
	• Emphasized the need for a proper balance between societal benefit and individual harm
Misha Angrist, PhD, MS, MFA-Keynote Speaker Duke Institute for Genome Sciences and Policy	Can You See the Real Me? Human Patients and Human Research Participants
	• Provided insights from experience as an IRB member and participant in the personal genome project (PGP)
	• Proposed that issues with identifiability and privacy are directly a result of research community and those overseeing human participant protections losing sight of the intended audience
	• Proposed de-identification should not be used to relieve researchers from their obligation to interact with their research participants
	• Stressed the importance of the return of results for community engagement, transparency, and promotion of participant trust
Bradley Malin, PhD, MS Health Information Privacy Laboratory at Vanderbilt University	“Omics” and the Changing Face of Identifiability
	• Risk for re-identification is not unique to “omic” data which was demonstrated over a decade ago using demographic data
	• Need to recognize that even with a link (e.g. matching sample), re-identification, although possible, is not probable
	• Suggested privacy policy discussions should acknowledge that de-identification, while somewhat protective, is not a panacea and should focus on the context of risk, opportunities for harm associated with re-identification, and risk-mitigation strategies
P. Pearl O'Rourke, MD Partners Healthcare	IRBs: Forced to Deal With “Identifiability” of Everything. A Daunting Mandate
	• Identifiability of various datasets or specimens lies on a spectrum, but IRBs are forced to make a binary choice–“yes” or “no”–when determining whether a proposed study represents human subjects research
	• Geneticists do not necessarily agree on whether particular types of “omic” data are identifiable
	• Explored the potential impact of consent for all secondary research using biospecimens or genomic data
Leslie Biesecker, MD Genetic Disease Research Branch, NHGRI	Hypothesis-Testing and Hypothesis-Generating Modes of Research
	• Hypothesis-testing paradigms have been useful during decades of research using low-throughput technology
	• Proposed a paradigm shift toward hypothesis-generating research, allowing investigators to assemble cohorts, collect molecular data, and use data to identify new phenotypes and generate new hypotheses
	• Such research could facilitate the transition toward personalized medicine and prevention, but it requires continuous interaction with research participants and an engaged, iterative approach to informed consent
John Wilbanks Ewing Marion Kauffman Foundation	Portable Legal Consent
	• Data sharing can be a beneficial way for patients to affirm their autonomy and overcome feelings of vulnerability and disempowerment
	• Currently there are no avenues for willing individuals to donate their health information to research studies
	• Proposed the use of Portable Legal Consent- a transparent, digital informed consent process that explains the terms under which investigators can access personal data and the rights granted to researchers who access these data and provides participants a comprehensive explanation of the scope of their consent
Deborah Collyar Patient Advocates in Research	Making Sense of Genomics While Protecting People
	• From the patient prospective, emphasized the need for plain language and clear information
	• Consent documents should state clearly the risks associated with donation, address mistrust arising from past medical controversies or atrocities, and allow participants to decide whether they want information back
	• Many patients want the biomedical research community to overcome intellectual property issues and share data
Kenneth Chahine, PhD, JD Ancestry DNA	The Future of Genomic and Health Data
	• World is changing from one in which health data are locked away in physicians' offices and research databases to one where individuals share large amounts of information through social networking and mobile phone applications
	• Many of Ancestry participants share their information to foster interaction
	• Individuals' ideas about privacy could change when they see a personal benefit from sharing
Jane Yakowitz Bambauer, JD University of Arizona	Seeding the Data Commons: Legal Safe Harbors for Research Data
	• Risk for re-identification is likely overstated and cautioned against implementing protections when the credible downstream risks are still unknown and when the value of information sharing is great
	• Proposed a three-step model that 1) includes a basic anonymization process, 2) holds data producers immune from privacy-related liability, and 3) ensures that malicious actors are held criminally liable for intentional re-identification and misuse of data