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Genomics 101 Murugu Manickam, MD  discloses  no significant financial interests or other relationships with commercial interests.  Presentation  will not  include discussion of commercial products or services and  will not  include unapproved or off-label usage of a commercial product or device. The following planning committee members have  no  significant financial interests or relationships with commercial interests to disclose, their educational unit  does not  have a financial interest or affiliation with an organization that may receive direct benefit from the subject of the proposed CME activity, and they  will not  be personally compensated for their role in the planning or execution of this proposed CME activity by an organization other than The Ohio State University:  Amy Ehrlich, MA  and Henry Zheng, PhD, MBA Murugu Manickam, MD Clinical Assistant Professor Division of Human Genetics
Genetics and Genomics  ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Genes ,[object Object],[object Object],[object Object],[object Object]
Some Differences Travel Together ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
HAP-MAP Project ,[object Object],[object Object]
Single Nucleotide Polymorphism ,[object Object],[object Object],[object Object],A-C-T-A- G -C-T-A-G-C-T-A- C -G-T-G-A-C-A-A-C-G-T-G- A -C-A-T-A A-C-T-A- G -C-T-A-G-C-T-A- C -G-T-G-A-C-A-A-C-G-T-G- A -C-A-T-A A-C-T-A- T -C-T-A-G-C-T-A- A -G-T-G-A-C-A-A-C-G-T-G- G -C-A-T-A A-C-T-A- T -C-T-A-G-C-T-A- A -G-T-G-A-C-A-A-C-G-T-G- G -C-A-T-A
Genome Wide Association Studies ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Genome Wide Association Studies
Genome Wide Association Studies ,[object Object],[object Object],[object Object],[object Object]
 
Weaknesses of GWA Studies ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Copy Number Variant ,[object Object],[object Object]
Extra/Missing copies ,[object Object],[object Object],[object Object],[object Object]
Copy Number Variant ,[object Object],[object Object],[object Object]
Then and Now and Tomorrow Cost ,[object Object],[object Object],[object Object],[object Object],[object Object]
Then and Now and Tomorrow Time ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Then and Now and Tomorrow Comparison to Others ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Sequencing ,[object Object],[object Object],[object Object],[object Object]
Sequencing ,[object Object],[object Object],[object Object],[object Object]
Relative Risk/ Absolute Risk ,[object Object],[object Object],[object Object],[object Object]
Relative Risk/ Absolute Risk ,[object Object],[object Object],[object Object],[object Object]
Relative Risk/ Absolute Risk ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Relative Risk/ Absolute Risk ,[object Object],[object Object],[object Object],[object Object],[object Object]
Relative Risk ,[object Object],[object Object],RR <1: protective RR >1: risk R=1 no relationship
Relative Risk ,[object Object],But dependent on baseline risk (1.5%) RR= 1.5 Absolute risk- 2.25% RR= 2 Absolute risk- 3% RR= 5 Absolute risk- 7.5% ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Relative Risk ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],But dependent on baseline risk (7.5%) RR= 1.5 Absolute risk- 11.25% RR= 2 Absolute risk- 15% RR= 5 Absolute risk- 37.5%
Relative Risk ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Plus additive/multiplicative risk and protective factors that individually might be small but collectively have a large effect over time
Relative Risk ,[object Object],So a SNPs changes that increase risk could be offset by behavioral changes that decrease risk. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Comparison to Other Risk Stratification ,[object Object],[object Object],[object Object],[object Object],[object Object],Age RR 50-54 2 LDL >190 1.6 HDL <35 1.6 SBP <160 3 Diabetes 1.6 Smoker 1.6
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Comparison to Other Risk Stratification Subject to pharmaceutical and lifestyle interventions Conservatively a $100 billion industry
[object Object],[object Object],Comparison to Other Risk Stratification
Direct to Consumer Companies ,[object Object],[object Object]
Direct to Consumer Companies ,[object Object],[object Object],[object Object],[object Object],[object Object],* Many have a disclaimer that the information gained is not for medical use
Direct to Consumer Companies ,[object Object],[object Object],[object Object]
Preventative Health ,[object Object],[object Object],[object Object]
Do you feel comfortable talking to a patient if they bring in a report like this to you…
[object Object],[object Object]

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Genomics 101: Understanding Relative Risk and Absolute Risk

  • 1. Genomics 101 Murugu Manickam, MD discloses no significant financial interests or other relationships with commercial interests. Presentation will not include discussion of commercial products or services and will not include unapproved or off-label usage of a commercial product or device. The following planning committee members have no significant financial interests or relationships with commercial interests to disclose, their educational unit does not have a financial interest or affiliation with an organization that may receive direct benefit from the subject of the proposed CME activity, and they will not be personally compensated for their role in the planning or execution of this proposed CME activity by an organization other than The Ohio State University: Amy Ehrlich, MA and Henry Zheng, PhD, MBA Murugu Manickam, MD Clinical Assistant Professor Division of Human Genetics
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  • 36. Do you feel comfortable talking to a patient if they bring in a report like this to you…
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