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Genetic Testing for
Macular Degeneration



Edwin M. Stone, M.D., Ph.D.
The Howard Hughes Medical Institute
The University of Iowa Institute for Vision Research
Financial Interests to Disclose


         None
AMD Prevalence 35% > Age 75
US Population over 75 years
        (will increase 44% by 2025)
19 million in 2012            27 million in 2025




              From the US Census Bureau
Prevention is the Key
AMD is Genetic
• More than 50% of all AMD is attributable
  to genetic factors
• Several genes, especially CFH and
  ARMS2, have been significantly
  associated with the development of AMD
The Role of Genetics
• Elucidate molecular mechanisms
• Create in vitro and animal models
• Enable novel mechanism-specific
  presymptomatic therapies
• Identify patient populations for clinical
  trials of these therapies
Ophthalmology. 2012 Nov;119(11):2408-10
Task Force Recommendation
Avoid routine genetic testing for genetically complex
disorders like age-related macular degeneration . . . until
specific treatment or surveillance strategies have been
shown in one or more published clinical trials to be of
benefit to individuals with specific disease-associated
genotypes. In the meantime, confine the genotyping of
such patients to research studies.

      Ophthalmology. 2012 Nov;119(11):2408-10
Current AMD genetic tests have not
 been shown to improve clinical outcome

• Less sensitive and specific than clinicians
• There is no mechanism-specific therapy
  available
• None of the tests can reliably distinguish
  between dry AMD and CNV
ARMS2
Normal vs AMD, p = 1.1 x 10-23
Dry vs CNV, p = 0.29 (NS)




  High Risk             Het      Low Risk
Complement Factor H
Normal vs AMD, p = 3.8 x 10-19
Dry vs CNV, p = 0.36 (NS)




  High Risk            Het       Low Risk
PIIR Study
              (Pepose Institute, Illinois Retina)
          N. Holekamp, A. Almony, M. MacCumber

• 103 subjects were tested for free by two commercial
  labs: Artic Dx (Macula Risk) and Sequenom (RetnaGene)
• 97 subjects had sufficient genotypic and clinical
  information for comparison
• 17/97 were normal controls (avg age 76.9 yrs)
• 33/97 had dry AMD (avg age 79.3 yrs)
• 47/97 had CNV (avg age 79.3 years)
Genotyping Errors
• Artic Dx failed to detect the CFH H3 haplotype in
  any patients (this haplotype is present in about
  30% of the population).
• There were no detectable genotyping errors in
  the data provided by Sequenom.
Risk Comparison Method
• Patients were assigned a risk rank from 1
  (mildest) to 97 (most severe) based on the risk
  score assigned to them from each company.
• These risk ranks were compared to each other
  and to the clinical phenotype assigned by the
  investigators.
Statistics

            Normal vs AMD      Dry vs CNV
Company 1    p = 1.4 x 10-5   p = 0.81 (NS)
Company 2    p = 2.9 x 10-5   p = 0.74 (NS)
Conclusions
• Avoid routine genetic testing for AMD until
  specific treatments have been shown in clinical
  trials to be of benefit to individuals with specific
  disease-associated genotypes.
• For now, the standard clinical examination is
  more sensitive and specific for detecting
  treatable disease than any genetic test.

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Aao amd nf

  • 1. Genetic Testing for Macular Degeneration Edwin M. Stone, M.D., Ph.D. The Howard Hughes Medical Institute The University of Iowa Institute for Vision Research
  • 2. Financial Interests to Disclose None
  • 4. US Population over 75 years (will increase 44% by 2025) 19 million in 2012 27 million in 2025 From the US Census Bureau
  • 6. AMD is Genetic • More than 50% of all AMD is attributable to genetic factors • Several genes, especially CFH and ARMS2, have been significantly associated with the development of AMD
  • 7. The Role of Genetics • Elucidate molecular mechanisms • Create in vitro and animal models • Enable novel mechanism-specific presymptomatic therapies • Identify patient populations for clinical trials of these therapies
  • 9. Task Force Recommendation Avoid routine genetic testing for genetically complex disorders like age-related macular degeneration . . . until specific treatment or surveillance strategies have been shown in one or more published clinical trials to be of benefit to individuals with specific disease-associated genotypes. In the meantime, confine the genotyping of such patients to research studies. Ophthalmology. 2012 Nov;119(11):2408-10
  • 10. Current AMD genetic tests have not been shown to improve clinical outcome • Less sensitive and specific than clinicians • There is no mechanism-specific therapy available • None of the tests can reliably distinguish between dry AMD and CNV
  • 11. ARMS2 Normal vs AMD, p = 1.1 x 10-23 Dry vs CNV, p = 0.29 (NS) High Risk Het Low Risk
  • 12. Complement Factor H Normal vs AMD, p = 3.8 x 10-19 Dry vs CNV, p = 0.36 (NS) High Risk Het Low Risk
  • 13. PIIR Study (Pepose Institute, Illinois Retina) N. Holekamp, A. Almony, M. MacCumber • 103 subjects were tested for free by two commercial labs: Artic Dx (Macula Risk) and Sequenom (RetnaGene) • 97 subjects had sufficient genotypic and clinical information for comparison • 17/97 were normal controls (avg age 76.9 yrs) • 33/97 had dry AMD (avg age 79.3 yrs) • 47/97 had CNV (avg age 79.3 years)
  • 14. Genotyping Errors • Artic Dx failed to detect the CFH H3 haplotype in any patients (this haplotype is present in about 30% of the population). • There were no detectable genotyping errors in the data provided by Sequenom.
  • 15. Risk Comparison Method • Patients were assigned a risk rank from 1 (mildest) to 97 (most severe) based on the risk score assigned to them from each company. • These risk ranks were compared to each other and to the clinical phenotype assigned by the investigators.
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  • 21. Statistics Normal vs AMD Dry vs CNV Company 1 p = 1.4 x 10-5 p = 0.81 (NS) Company 2 p = 2.9 x 10-5 p = 0.74 (NS)
  • 22. Conclusions • Avoid routine genetic testing for AMD until specific treatments have been shown in clinical trials to be of benefit to individuals with specific disease-associated genotypes. • For now, the standard clinical examination is more sensitive and specific for detecting treatable disease than any genetic test.