Overview and Phenotype Information

1. What is the NEI-AREDS Genetic Repository?
2. What does a matching status of 'Matched' or 'Untested' indicate?
3. How was the final AMD phenotype determined?
4. How was the cataract phenotype determined?
5. Is additional phenotypic information other than what is shown in the catalog available and, if so, how can I get access to it?
6. What does 'Participant Chip Status' refer to?
7. What does a consent status of 'Eye Disease Research Only' mean?
8. If there is more than one specimen from a participant, are both of these shown in the catalog?
9. I previously received a DNA specimen from the Repository and want to order more DNA for this specimen but it is not listed in the catalog. What does this mean?
10. How many tubes of DNA from the same specimen or participant can I order?

Privacy and Investigator and AREDS Participant Rights

1. What assurances are in place to protect participant privacy?
2. What is the effect of the Health Insurance Portability and Accountability Act (HIPAA) on the NEI-AREDS Repository?
3. Does the Repository have a Certificate of Confidentiality?

Contact Information

Overview and Phenotype Information

1. What is the NEI-AREDS Genetic Repository?

   The NEI-AREDS Genetic Repository is a collection of genetic material submitted by participants in the Age-Related Eye Disease Study (AREDS) which was sponsored by the National Eye Institute (NEI). The Repository stores DNA for use by investigators conducting genetics research into the causes of eye disease.

2. What does a matching status of 'Matched' or 'Untested' indicate?

   During a pilot examination of participants from one AREDS Clinical Center with 2 different specimens drawn, it was found in some cases that the two samples presumed to be from the same participant did not match. To ensure that this labeling error was not more widespread, a second blood sample was obtained from most participants and the DNA fingerprint from both blood samples was compared. A matching status of ‘Matched’ means that this participant had 2 or more different blood specimens whose DNA fingerprints matched. Of the participants with multiple specimens whose DNA fingerprints were compared, 2.9% had specimens that did not match. Specimens that were DNA fingerprinted that did not match were destroyed.

   A matching status of 'Untested' means either 1) no second sample was obtained for this participant so the matching status could not be tested (the majority of cases), or 2) a second sample was obtained for this participant but DNA was not obtained for fingerprinting, however other genetic material (such as a cell line) is available that could be used to obtain DNA in the future which could then be tested. This means that in some rare cases a participant has both ‘Matched’ and ‘Untested’ specimens. Based on the DNA fingerprinting results described above, it is estimated that 2.9% of ‘Untested’ specimens have a labeling error such that the AREDS ID of the genetic specimen has been linked to the phenotypic data from a different AREDS participant.

3. How was the final AMD phenotype determined?

   A detailed description of how the final AMD phenotype categories were defined is found here.

4. How was the cataract phenotype determined?

   A detailed description of how the cataract phenotype was defined is found in the following article:

   AREDS Report No. 24 â€" Cataract Classification using Serial Examinations in the Age-Related Eye Disease Study. American Journal of Ophthalmology. Vol 145 (No. 3), March 2008. pp 504-508.

5. Is additional phenotypic information other than what is shown in the catalog available and, if so, how can I get access to it?

   Yes. Additional phenotypic information for AREDS participants is available here in the database of Genotype and Phenotype (dbGaP) through the National Center for Biotechnology Information (NCBI). To apply for access to these data, go here.

6. What does 'Participant Chip Status' refer to?

   600 AREDS participants were selected to be genotyped by the Center for Inherited Disease Research (CIDR) using the Illumina 100K and the Affymetrix 100K gene chips. Some specimens were successfully genotyped with both gene chips, some with only the Illumina gene chip, some with only the Affymetrix gene chip, and some with neither gene chip. These gene chip data are available in the dbGaP. Note that while only one specimen from a participant was genotyped, all specimens from that participant have the same participant chip status. This is due to the fact that the genotypes would be the same for specimens from the same participant. Also note that participant chip status only refers to the 100K gene chip results for these 600 AREDS participants, not to any other gene chip results submitted by other researchers using AREDS DNA.

7. What does a consent status of 'Eye Disease Research Only' mean?

   Some participants only consented to have their genetic specimen used for eye disease research. This means that the phenotypic information available for these specimens in the dbGaP is limited to a much smaller set of variables considered pivotal for eye disease research but not considered pivotal for other types of research. Specimens from participants who consented to ‘General Research Use’ have all AREDS phenotypic data available in the dbGaP.

8. If there is more than one specimen from a participant, are both of these shown in the catalog?

   Only one specimen ID per participant is shown in the catalog. However, an Excel spreadsheet that lists all the specimens for every participant is available via a link at the top of the AREDS DNA page of the catalog. To find other specimens from the same participant, search for records where the participant ID (called 'ID2') is the same.

9. I previously received a DNA specimen from the Repository and want to order more DNA but it is not listed in the catalog. What does this mean?

   There are two possibilities:

   • A different specimen from the same participant is what is listed in the catalog. Find the specimen number(s) from the same participant as described above and see if the other specimen is listed in the catalog.
   • DNA is no longer available for this participant. However, it is possible that DNA could be available for this specimen in the future. Contact Coriell for information about whether this specimen will have DNA available in the future.

10. How many tubes of DNA from the same specimen or participant can I order?

    You may order 1 tube of DNA from the same specimen or participant per order.

1. What assurances are in place to protect participant privacy?

   The NEI-AREDS Genetic Repository is a collection of genetic material submitted by participants in the Age-Related Eye Disease Study (AREDS) which was sponsored by the National Eye Institute (NEI). The Repository stores DNA for use by investigators conducting genetics research into the causes of eye disease. Identifiable information is not used or retained by Coriell Repositories for any samples distributed. Some participant identification, such as age, gender, and race, will be made available to the Repository and researchers; however, these data will not be traceable to any individuals and will be HIPAA compliant.

2. What is the effect of the Health Insurance Portability and Accountability Act (HIPAA) on the NEI-AREDS Repository?

   The Privacy Rule is a federal regulation under the Health Insurance Portability and Accountability Act (HIPAA) of 1996 that governs the protection of individually identifiable health information. The Repository does not accept or store any personally identifying information on samples, and therefore, investigators ordering samples are HIPAA compliant during repository usage. Note that Coriell and the NEI-AREDS Repository are not covered entities, and therefore, are not subject to HIPAA regulations.

3. Does the Repository have a Certificate of Confidentiality?

   A Certificate of Confidentiality protecting the identity of research subjects has been issued by the National Institutes of Health to the Repository to protect the privacy of research participants by withholding their identities from all persons not connected with this research.

Lorraine H. Toji, Ph.D.
Principal Investigator, NEI-AREDS Genetic Repository
Coriell Institute for Medical Research
Email: ltoji@coriell.org
Phone: 856-757-9719

Alice K. Henning, M.S.
Director of AREDS Genetic Ancillary Studies, AREDS Coordinating Center
The EMMES Corporation
Email: ahenning@emmes.com
Phone: 301-251-1161 X168