Requests for Biological Specimens for Genetic Research
The DNA Committee reviews applications for DNA or other biological specimens for use in genetic studies. DNA is available from the Framingham Study participants for whom lymphoblast cell lines have been established. All DNA samples will be distributed in 96 well plates at a concentration of 10ng/ul unless other specifications are provided. Currently, there are five standard plate sets: Gen1 plate set is the Original Cohort, Gen 2A and Gen 2B plate sets are the Offspring Cohort, the NOS plate set contains spouses of Offspring and the Gen 3 plate set is the Third Generation Cohort. Omni Cohort plate sets made from blood DNA are also available. Requests for DNA will be filled from these plate sets. A small set of samples without cell line back up are available with additional approval from the Executive Committee.
Custom DNA plate sets may be requested. For example, a sample set of persons with CHD and age and sex matched controls may be requested. Custom DNA requests require detailed justification. Custom DNA requests are filled when the lab has time available and there is no guaranteed timeline.
- A clear description of the aims and of the significance of the study
- The proposed study design
- The analysis plan and power calculations that justify sample size
- The justification for the use of Framingham specimens
- A description of the gene/polymorphism/mutation to be studied
- The experience of the recipient laboratory in this or similar assays
- The justification for the amount of DNA requested
- The FHS strongly urges that proposals include the use of Omni DNA specimens in any study whenever the necessary covariates are available. Because of the smaller size of the Omni, the DNA committee will not require that power calculations be provided for the Omni.
Addendum DNA Application
The Addendum Application allows investigators to extend the scientific aims of a previously approved application. An addendum application may request to add elements to a previously approved application or to follow up on the original application's resultant data through additional analyses, assays or subjects. Approved addendum applications require a new distribution agreement to cover the new elements of the proposal. An addendum is not the appropriate tool for resubmission of applications that require edits either prior to or after committee review. Those applications should simply be edited and resubmitted, retaining the same ID number. Addendum applications to the DNA Committee must be submitted within 3 years of the effective date of the original proposal's Distribution Agreement or within 3 years of the approval letter date, whichever comes later.
Expedited DNA Application
The Expedited DNA Application is available for rapid turn-around to follow-up on genetic results, such as genome-wide association study (GWAS) results and may be submitted at any time. Permission will only be granted if the preliminary data for follow-up has reached genome-wide significance. The phenotype in the initial GWAS must be clearly described, with a description of the analogous trait in the Framingham Heart Study. Careful justification of the relevance of the requested phenotype is required. Requests for non-renewable specimens may not use the expedited pathway. Use of extant genetic material may be requested through this mechanism. Expedited DNA Applications will be reviewed and a Decision Letter sent to investigators within 10 business days. Applications for other types of follow-up on genetic results may be considered for expedited review on a case by case basis. The investigator needs to provide adequate justification of the need for expedited review.