Report Contents
  1. Coriell Personalized Medicine Collaborative Research Study Report. This report includes all data included in the clinical report as well as supplemental interpretations and educational material. This research report is based on Questionnaires Finalized on 08/01/2010
  2. Clinical Report. This report was generated and approved by Coriell's CLIA certified genotyping laboratory.
 
Sample Results
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, New Jersey 08103 USA
Phone: 888-580-8028
Fax: 856-964-0254
cpmc.coriell.org
CPMC Research Study Report
Name: NATALIE DEMO   Gender: Female
Date of Birth:   Date Collected: 04-18-2014
Coriell ID: DEMONAT   Date Received: 04-18-2014
Lab Accessioning Number: DEMONAT   Date of Report: 12-01-2009
Ordering Physician: Dr. Edward Viner  
Risk of Developing Age Related Macular Degeneration Based on:
  • CPMC Age Related Macular Degeneration Variant 1 (rs10490924)
  • Family History
  • Smoking


The CPMC is a research study investigating the utility of personalized genomic information on health and health behavior. At this time, the CPMC is reporting one genetic variant per health condition. Since most common health conditions are caused by an interaction between more than one genetic factor and non-genetic factors such as lifestyle, the genetic variant risk in this report does not represent your complete genetic risk for age-related macular degeneration. These results were generated as part of this research study in a CLIA-approved laboratory.

More information about the study, how to interpret CPMC results, and how we calculate risk is available on our website http://cpmc.coriell.org or by contacting our genetic counselor. Participants may schedule an appointment with our board-certified genetic counselor through the web portal by clicking on “request an appointment”. Our genetic counselor also can be reached by email at cpmcgc@coriell.org or by phone at 888-580-8028.

This research report includes all data included in the clinical report as well as supplemental interpretations and educational material. Please see the report that follows for the official clinical report.
 
Age Related Macular Degeneration
Risk factors may be related to each other and risk estimates cannot be combined.
This graph provides a summary of the relative risks for genetic variant, family history, and smoking.
You reported you are an African American woman, less than 50 years old; data for African American women in your age group are not available, however, an estimated 0.7% of African American women between 50 and 54 years old have age-related macular degeneration. Age-related macular degeneration usually affects individuals over the age of 50.
Chart Color Relative Risk Due To: Your Risk Minimum Risk Maximum Risk Interpretation
   Genetic Variant 1.00 1.00 6.00 You have 2 copies of the non-risk variant. Based on this result, you are at lower risk to develop age-related macular degeneration compared to someone with one or two copies of this variant.
   Smoking Status 1.00 1.00 2.00 Because you are not a smoker, you are at a lower risk to develop age-related macular degeneration compared to current and former smokers.
   Family History 1.00 4.00 Risk estimates are not available. Necessary information for this risk factor was marked as “unknown” or not provided on the Family History questionnaire.
 
Age Related Macular Degeneration
Risk Due To Genetic Variant #1 (rs10490924)
Your Result: 2 copies of the non-risk variant were detected (GG)
Non-Risk Variant = G      Risk Variant = T
Chart Color Your Risk Minimum Risk Maximum Risk Interpretation
   1.00 1.00 6.00 You have 2 copies of the non-risk variant. Based on this result, you are at lower risk to develop age-related macular degeneration compared to someone with one or two copies of this variant.
Genetic Variant Risk is based on the number of copies of this genetic risk variant.

People with one or two copies of the risk variant are compared to people with no copies of the risk variant to determine relative risk.

A relative risk greater than 1.0 indicates an increased risk.
These results are based on multiple studies.
 
Age Related Macular Degeneration
Risk Due To Smoking Status
You reported that you do not smoke.
Chart Color Your Risk Minimum Risk Maximum Risk Interpretation
   1.00 1.00 2.00 Because you are not a smoker, you are at a lower risk to develop age-related macular degeneration compared to current and former smokers.
Risk is compared based on smoking habits.

People who are current smokers or former smokers are compared to people who have never smoked to determine relative risk.

A relative risk of greater than 1.00 indicates an increased risk.
These results are based on multiple studies.
 
Age Related Macular Degeneration
Risk Due To Family History
You reported that you don’t know if one or more of your first degree relatives (parents, siblings, or children) have age-related macular degeneration.
Chart Color Your Risk Minimum Risk Maximum Risk Interpretation
   1.00 4.00 Risk estimates are not available. Necessary information for this risk factor was marked as “unknown” or not provided on the Family History questionnaire.
Risk is compared based on family history.

People with first degree relative (parent, sibling, or child) with age-related macular degeneration are compared to people with no first degree relative with age-related macular degeneration to determine relative risk of developing age-related macular degeneration.

A relative risk greater than 1.00 indicates an increased risk.
These results are based on a single study.
 
Age Related Macular Degeneration - Variant #1 (rs10490924)
We all have 2 copies of every gene, one from each of our parents.
Each copy may have small changes called genetic variants.
Some genetic variants are associated with an increased risk of disease.
Some genetic variants are associated with a decreased risk of disease.

Having one or two copies of this variant increases your risk for age-related macular degeneration.
How Common Is This Variant?
Non-Risk Variant = G      Risk Variant = T
GG - 58 in 100 people have 2 copies of the non-risk variant
GT - 39 in 100 people have 1 copy of the non-risk variant and 1 copy of the risk variant
TT - 3 in 100 people have 2 copies of the risk variant
This data is based on studies in African American populations.










Gene: ARMS2 Chromosome: 10q26.13
 
Genetic vs. Non-Genetic Risk Factors
Age-related macular degeneration can be caused by both genetic factors and non-genetic (or environmental) risk factors.

It is estimated that non-genetic factors (like smoking) account for about 29% of the risk of age-related macular degeneration.

It is estimated that 71% of the risk for age-related macular degeneration is based on genetic risk factors. This estimate accounts for both known and unknown gene variants.

There are many different genetic and non-genetic risk factors that contribute to the risk of age-related macular degeneration. We are only able to tell you about your family history risk, 1 genetic and 1 non-genetic risk factors at this time.
 
Ancestry, age, and gender contribute to your risk of age-related macular degeneration.

You reported you are an African American woman, less than 50 years old; data for African American women in your age group are not available, however, an estimated 0.7% of African American women between 50 and 54 years old have age-related macular degeneration. Age-related macular degeneration usually affects individuals over the age of 50.
 
Age Related Macular Degeneration
  • This result alone does NOT diagnose age-related macular degeneration. Age-related macular degeneration must be diagnosed by your health care provider.
  • This result does NOT mean that you have or will absolutely develop age-related macular degeneration.
  • This result does NOT mean that you will not develop age-related macular degeneration in the future.
  • This result ONLY assesses your risk for developing age-related macular degeneration due to the factors presented in this report and does not mean that other genetic variants or risk factors for age-related macular degeneration are present or absent.
  • Personal risk factors, such as age, family history or lifestyle, may have a greater impact on your risk to develop age-related macular degeneration than any individual genetic variant.
  • Risk estimates are based on current available literature.
  • Although rare, it is possible that you may receive an incorrect result; 100% accuracy of reported results cannot be guaranteed.
  • Occasionally there may be a specific variant on a gene chip that is not able to be read or interpreted. In this case you will not receive a result for that variant. It is expected that you will receive results for about 95% of variants approved by the ICOB.
  • Relative risks used to estimate risk of disease for CPMC participants are based on groups of people with the same risk or protective factor as the individual CPMC participant. In some cases, the relative risk is estimated based upon an odds ratio and known or assumed disease prevalence.
  • Separate risk estimates for each risk or protective factor have been given. Risk or protective factors may be related to each other and risk estimates cannot be combined.
  • Risk information for non-genetic factors is based on information you provided in your medical, family, lifestyle questionnaire. If you did not provide answers or if you answered “do not know”, risk estimates for some factors may not be available.
  • Risk information for non-genetic factors is based on information you provided in your medical, family, lifestyle questionnaire and may not be reflective of your current risk if any of these factors have changed. You will be given the opportunity to update your medical, family and lifestyle questionnaire responses periodically.
  • Every effort will be made to provide you with risk information based on your reported race/ethnicity. However, data may not be available for all races/ethnicities for all risk factors. Please see your individual results to determine which race/ethnicity the data given is based on.
  • For some risk factors data may be provided by gender. Every effort will be made to provide you with risk information based on your reported gender. However, when risk data is not available for both genders, risk results for the available gender will be provided.
Age Related Macular Degeneration
Upcoming Education Seminars on Age Related Macular Degeneration
Hosted by Coriell's Genetic Counselor and Hospital Physicians, these forums aim to educate individuals on particular diseases and variants included in the CPMC research study.
No Education Seminars Scheduled
View Past Seminar
 
Age Related Macular Degeneration
This condition and genetic variant(s) were approved by the Informed Cohort Oversight Board (ICOB)
Test Methodology
Saliva samples were collected using Oragene DNA Collection Kits (DNA Genotek) and DNA was extracted manually according to the manufacturer’s instructions. Purified DNA was quantified using UV absorbance at 260 nm. Five hundred nanograms of the resulting DNA from each sample were used as template in the Affymetrix Genome-Wide Human SNP Nsp/Sty 6.0 GeneChip assay. Data analysis was performed using Affymetrix Genotyping Console software.

See CPMC Technical Paper for genetic variant selection and reporting methodology.
[Risk interpretation based on Coriell's Age Related Macular Degeneration Risk Algorithm Version 2 (April 1, 2014)]
  1. Stack, C. et al (2011). Genetic risk estimation in the Coriell Personalized Medicine Collaborative. Genet Med. 13(2):131-139.
  2. Friedman, D.S. et al (2004). Prevalence of Age-Related Macular Degeneration in the United States. Archives of Ophthalmology 122:564-572.
  3. Seddon, J.M. et al (2005). The US Twin Study of Age-Related Macular Degeneration. Archives of Ophthalmology 123:321-327.
  4. Conley, Y.P. et al (2006). CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Human Molecular Genetics 15(21):3206-3218.
  5. Cong, R. et al. (2008) Smoking and the Risk of Age-related Macular Degeneration: A Meta-Analysis. Annals of Epidemiology 18:647-656.
  6. Smith, W. et al. (1998) Family history and age-related maculopathy: The Blue Mountains Eye Study. Australian and New Zealand Journal of Ophthalmology 26:203-206.
  7. McVean G.A. et al (2012) An integrated map of genetic variation from 1,092 human genomes. Nature. 491; 56-65.
 
Sample Results
Coriell Institute for Medical Research
Coriell Genotyping and Microarray Center
403 Haddon Avenue Camden, NJ 08103
Phone: 856-966-7377 Fax: 856-964-0254   www.coriell.org
Clinical Report for Age Related Macular Degeneration Genetic Variant 1 (rs10490924)
Name: NATALIE DEMO   Sample Type: Saliva
Race/Ethnicity: Black or African-American   Gender: Female
Date of Birth:   Date Collected: 04-18-2014
Coriell ID: DEMONAT   Date Received: 04-18-2014
Lab Accessioning Number: DEMONAT   Date of Report: 12-01-2009
Ordering Physician: Dr. Edward Viner  
Name of Gene/Region: ARMS2 Chromosomal Location:  10q26.13
Variants tested Result Reference Genotype
rs10490924 GG GG
Interpretation Individuals with this result are at a lower risk to develop age-related macular degeneration compared to someone with one or two copies of this genetic risk variant.
These risk estimates are based on studies involving multiple populations that include individuals with European ancestry. When race/ethnicity specific risk estimates are not available, risk estimates based on Caucasian populations are provided.
Other Risks Other genetic variants and other risk factors including co-morbidities, lifestyle and family history may contribute to the risk of age-related macular degeneration. For additional information on other risk factors please see the accompanying CPMC research report
Risk interpretation based on Coriell's Age Related Macular Degeneration Risk Algorithm Version 2 (April 1, 2014)
Test Limitations
DNA-based testing is highly accurate, however there are many sources of potential error including: mis-identification of samples, rare technical errors, trace contamination of PCR reactions, and rare genetic variants that interfere with analysis. There may be other variants, not included in this test, that influence the risk to develop age-related macular degeneration. This test is not diagnostic for age-related macular degeneration and cannot rule out the risk of developing age-related macular degeneration in the future. Risk estimates are based on current available literature (see reference). This test or one or more of its components was developed and its performance characteristics determined by the Coriell Institute for Medical Research. It has not been approved by the Food and Drug Administration (FDA). The FDA has determined that such approval is not necessary. The Coriell Institute is regulated under the Clinical Laboratory Improvement Amendments (CLIA) of 1988 as qualified to perform high-complexity testing.
Test Methodology
Saliva samples were collected using Oragene DNA Collection Kits (DNA Genotek) and DNA was extracted manually according to the manufacturer’s instructions or automatically using a DNAdvance Kit (Agencourt). Purified DNA was quantified using UV absorbance at 260 nm. Five hundred nanograms of the resulting DNA from each sample were used as template in the Affymetrix Genome-Wide Human SNP Nsp/Sty 6.0 GeneChip assay. Data analysis was performed using Affymetrix Genotyping Console software.
electronically signed by
Marie Hoover, PhD, Laboratory Director
This clinical report only includes data generated in the CLIA approved genotyping laboratory, for additional information please see the CPMC research report.
References
  1. Conley, Y.P. et al. (2006). CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Human Molecular Genetics 15(21):3206-3218.
Age Related Macular Degeneration
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