The following resources and publications may be of interest to those developing or managing patient registries and bio-repositories.

Template Materials for GRDR Participation

Informed consent template for participating in rare disease registries (sharing de-identified data with GRDR)
For organizations seeking to develop a consent document that includes elements for participation in the GRDR program.

Registry-Related Articles

Patient registry for the overlooked patient Contemporary Clinical Trials. 2010 Sept;31 (5):393.

http://biospecimens.ordr.info.nih.gov/ Biorepositories/Biospecimens Database for Rare diseases RD-HUB

Letter to the editor - Contemporary Clinical Trials Contemporary Clinical Trials. 2010 Sep:3 (5):393

Creating a Global Rare Disease (Patient) Registry Linked to a Rare Diseases Biorepository Database: Rare Disease-HUB (RD-HUB) Contemporary Clinical Trials. 2010 Sep;31 (5):394-404.

The case for a global rare diseases registry Lancet 2010 Aug. 2 193: 5

Harnessing the Potential of Data Mining and Information Sharing Report to the President on Health Information Technology, U.S. Food and Drug Administration

Applying Standards to Public Health: An Information Model for a Global Rare-Diseases Registry National Library of Medicine and Office of Rare Diseases Research, National Institutes of Health, Bethesda, MD

Using global unique identifiers to link autism collections J Am Med Inform Assoc 2010;17:689-695 doi:10.1136/jamia.2009.002063

Common Data Elements

Office of Rare Diseases Research Global Rare Diseases Patient Registry and Data Repository-GRDR Minimal Common Data Elements (CDEs)
The list of rare disease common data elements (CDEs) developed by the Office of Rare Diseases Research (ORDR). For further detail, refer to the Common Data Element section of this website.

Informed Consent

Informed Consent Process for Patient Participation in Rare Disease Registries Linked to Biorepositories Informed Consent Workshop Proceedings

Informed consent process for patient participation in rare disease registries linked to biorepositories Contemporary Clinical Trials. doi:10.1016/j.cct.2011.10.004

Informed consent and patient registry for the rare disease community: Editorial Contemporary Clinical Trials. doi:10.1016/j.cct.2011.10.005

Informed consent, a broken contract read in: Nature commentary,

http://www.nature.com/news/informed-consent-a-broken-contract-1.10862

Biospecimens/Biobanking

Creating a Global Rare Disease (Patient) Registry Linked to a Rare Diseases Biorepository Database: Rare Disease-HUB (RD-HUB) Contemporary Clinical Trials. 2010 Sep;31 (5):394-404.

Active choice but not too active: Public perspectives on biobank consent models Genet Med. 2011 May 6. [Epub ahead of print]

Biobanking: shifting the analogy from consent to surrogacy Genetics in Medicine 14, 183-188 (February 2012)

NCI Informed Consent Example consent form for use of tissue for research

NIH Bioethics Resources on the Web Provides a compilation of weblinks on a wide range of bioethics topics

Other resources for Patients

            NORD

Rare Disease Day Video Library 2011 video library from the National Organization for Rare Disorders

News fro AHRQNews fro AHRQA

News fro AHRQ

Second edition for the user's guide for the AHRQ Registries Evaluating Ptient Outcomes:

http://www.effectivehealthcare.ahrq.gov/ehc/products/74/531/Registries%202nd%20ed%20final%20to%20Eisenberg%209-15-10.pdf

AHRQ

Second edition of the user's guide for the Registries Evaluating Ptient Outcomes is now availabl

http://www.effectivehealthcare.ahrq.gov/ehc/products/74/531/Registries%202nd%20ed%20final%20to%20Eisenberg%209-15-10.pdf

            Genetic Testing

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing Sci Transl Med 3, 65ra4 (2011)

Sequencing: the next generation. Moving beyond population-based recessive disease carrier screening Clin Genet 2011: 80: 25–30