Request for Information (RFI): Data and Biospecimen Resources for Studying Addiction-Related Rare Genetic Variants in Families

Notice Number: NOT-DA-12-017

Update: The following update relating to this announcement has been issued:

  • November 9, 2013 - See Notice NOT-DA-13-008. Notice of Response Date Extension.

Key Dates
Release Date: August 6, 2012
Response Date: (Extended to December 31, 2012 per NOT-DA-13-008), Originally September 7, 2012

Issued by
National Institute on Drug Abuse (NIDA)


This Notice is a time-sensitive Request for Information (RFI) soliciting input for strategic planning in human genomics research funded by the National Institute on Drug Abuse (NIDA). The purpose is to invite responses from the research community about ongoing family studies and pedigree data resources in the U.S. and internationally that could be leveraged for the identification and characterization of rare genetic and pharmacogenetic variants related to addiction phenotypes and co-morbid conditions, in the context of environmental exposures.


NIDA has an established addiction genetics research program that includes a funded grants portfolio in human genomics, pharmacogenomics, and genetic epidemiology (see A 2012 NIH Guide Notice of NIDA’s Priorities for Human Genetics Research communicated funding priorities in the post-genome wide association study period that emphasize targeted, whole-genome or -exome sequencing, and/or bioinformatic and computational approaches, to identify and characterize genetic variants contributing to addiction liability and treatment outcomes. In considering future directions, NIDA wishes to learn about the types of existing or adaptable resources that may be available for large-scale efforts to advance discovery, replication, and characterization of rare variants in multi-generational pedigrees.

Information Requested

Specific and detailed Information is sought about ongoing studies and data resources with existing or readily obtainable phenotypic data describing addictive substance use and dependence in families. To be in scope for this Request, sequencing data on probands and a minimum set of relatives should be accessible under NIH data sharing terms, or else DNA should be available or readily obtainable for sequencing. Readily obtainable generally refers to availability within a 3-5 year timeline and reasonable budget constraints. De novo studies are not currently under consideration; however, researchers may comment on why existing family-based resources may not be adequate or modifiable to meet research needs. Statements about research gaps in rare variant discovery are also broadly invited, including from investigators not currently leading ongoing family studies or otherwise managing family-based resources. Input is sought on the areas described below, as well as on other related items that the research community might consider.
Response to this RFI is voluntary. Responders are free to address any or all of the following items. Please note that the Government will not pay for response preparation or for the use of any information contained in the response. Responses will be used for program planning at NIDA and this RFI should not be construed as a solicitation or as an obligation on the part of the Federal Government, the National Institutes of Health (NIH), and/or NIDA. Anonymity of respondents cannot be guaranteed. Existing documentation of studies, databases, variables, study designs can be submitted under this request.

  • For your study or database, please describe the extent of phenotypic data for specific addictive substances such as nicotine/tobacco, alcohol, cannabis, and/or opioids. List questionnaires that were used or could be adapted in the next round of data collection, and established or novel phenotypes/endophenotypes that might be studied in relation to rare genetic variants. Please comment on the suitability of the phenotype data for meta- and mega-analysis, or other approaches to large-scale studies of rare variants. For example, provide specifics on the harmonization potential with phenotypes described in the Genetics Data Harmonization | National Institute on Drug Abuse website and the PhenX Toolkit (see Additional items to include could be:
  • Co-morbidity, demographic, ancestry and environmental variables that could also be accessed for large-scale rare variant discovery and replication.
  • The study designs used, the types of relatives for whom genomic data were obtained or imputed, and samples sizes. Comments regarding statistical power are also sought.
  • The existing genomic data available for your samples, or the types and numbers of biospecimens that could be made available for DNA sequencing with additional time or funds.
  • The consent process that was used to collect epidemiologic and clinical data, and any biospecimen collections and assays conducted under previous study aims. Discuss the ELSI implications (including re-consent) of broadening study aims to include new study subjects, self-reported and clinical data, biospecimens, and/or genomics assays.
  • Any data issues of relevance or concern, including but not limited to data sharing, storage, annotation, bioinformatics, computational tools, statistical analysis, or funding for tool development, maintenance and support, and algorithm development. Possibly sharing your data, including sequencing results, in a large compendium containing data from multiple studies.
  • Any biobanking and sequencing issues of relevance or concern, including but not limited to nucleic acid extraction and duplication, sequencing platforms, quality assurance and quality control.

For international studies conducted outside the U.S., describe policies, procedures, consent, or other issues that might have an impact on the sharing of data and DNA with international collaborators.

  • Provide a brief justification for any new data and/or biospecimen collections you consider necessary to expand pedigrees, addiction phenotyping, critical covariates, sources of DNA, or other items.
  • For the above items and any other specific areas you believe are worthy of consideration, please identify additional critical issue(s) and impact(s) on the scientists, institutions, or both, and explain the most important for NIDA to address and why.
How to Submit a Response

Responses to this RFI will be accepted through September 30, 2012 via email to Louise Wideroff, PhD MSPH at Respondents will receive an electronic confirmation acknowledging receipt of their response, but will not receive individualized feedback on any suggestions. No basis for claims against the U.S. Government shall arise as a result of a response to this request for information or from the Government’s use of such information.


Specific questions about this RFI should be directed to:

Louise Wideroff, PhD, MSPH
Program Official, Office of the Director
Division of Basic Neuroscience and Behavioral Research
National Institute on Drug Abuse
6001 Executive Boulevard
Rm. 4271, MSC 9555
Bethesda, MD 20892-9555
Tel: 301-451-8663
Fax: 301-594-6043