Notice of Information: The Alzheimer's Disease Sequencing Project Policy (ADSP) on the Publication of Study-Related Data

Notice Number: NOT-AG-16-033

Key Dates
Release Date:  July 27, 2016

Related Announcements
None    

Issued by
National Institute on Aging (NIA)

Purpose

This Notice clarifies NIA policy on access to and publication of Alzheimer's Disease Sequencing Project (ADSP) data.

The overarching goals of the ADSP are to: (1) identify new genes involved in AD, (2) identify gene alleles contributing to increased risk for, or protection against, the disease, (3) provide insight as to why individuals with known risk factor genes escape from developing AD, and (4) identify potential avenues for therapeutic approaches and prevention of the disease. 

To date the ADSP has generated three sets of genome sequence data for these samples as part of the Discovery Phase of the project: (1) Whole genome sequenced (WGS) data for 584 samples from 113 multiplex families, (2) Whole Exome Sequence (WES) for 5,096 AD cases and 4,965 controls, and (3) WES of an Enriched sample set comprised of 853 AD cases from multiply affected families and 171 Hispanic controls. Applicants for these data can obtain: (1) cleaned, quality control checked sequence data, (2) information on the composition of the study cohorts (e.g. case-control, family based, and epidemiology cohorts), (3) descriptions of the study cohorts included in the analysis, (4) accompanying phenotypic information such as age at disease onset, gender, diagnostic status, and cognitive measures, and (5) epidemiological information such as educational level and certain demographic data available on the subjects genotyped.

Sequence data are available by application to the Database for Genotypes and Phenotypes (dbGaP) through http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000572.v7.p4
or through the NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS), which is the Data Coordinating Center for the ADSP. Instructions are found on the NIAGADS ADSP website. Please contact NIAGADS staff at niagads@upenn.edu for assistance with this process. NIAGADS is working in partnership with dbGaP on this effort (see NIAGADS partnership with dbGaP).  ADSP genomic and phenotypic data are to be made available rapidly after generation.

In December 2012, the ADSP released a Memorandum of Understanding (MOU). This document stated: "In the spirit of the clear benefit that ensues from converting such data sets into community resources as rapidly as possible, it is expected that users of the data generated by the ADSP will withhold publication until the producers of the data have published their findings. ADSP participants will publish their data in an expeditious fashion at least one major paper reporting the results of the ADSP to be jointly submitted by all of the members." 

On August 27, 2014 NIH released the NIH Genomic Data Sharing (GDS) Policy (http://gds.nih.gov/03policy2.html) that promotes sharing, for research purposes, of large-scale human and non-human Genomic Data generated from NIH-funded research. In keeping with the GDS policy, NIA issued a sharing policy specific to the genetics and genomics of Alzheimer's disease https://www.nia.nih.gov/research/dn/alzheimers-disease-genomics-sharing-plan.

The ADSP adheres to the GDS Policy. Embargoes on publication of ADSP data were lifted in waves, as quality control checked and variant called WGS and WES data were generated by the consortium. There presently are no embargoes to access or publication of ADSP data. With the implementation of the GDS policy and the 2015 public release of the ADSP data, the 2012 MOU language is no longer relevant. The ADSP phenotype and genetic data are made available to the research community at large immediately after quality control checks and variant calls are completed.

Inquiries

Please direct all inquiries to:

Marilyn Miller, Ph.D.
National Institute on Aging (NIA)
Telephone: 301-496-9350:
Email: millerm@nia.nih.gov