Genomics 101 Murugu Manickam, MD  discloses  no significant financial interests or other relationships with commercial int...
Genetics and Genomics  <ul><li>Genetics </li></ul><ul><ul><li>Rare disease oriented </li></ul></ul><ul><ul><li>Single gene...
Genes <ul><li>Humans have only about 23,000 genes in 6 billion base pairs (2 copies) </li></ul><ul><ul><li>FYI: Frogs and ...
Some Differences Travel Together <ul><li>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 </li></ul><ul><li...
HAP-MAP Project <ul><li>Too expensive to look at every single base pair, so a short cut was developed- look at the areas t...
Single Nucleotide Polymorphism <ul><li>Caucasians from Utah have mostly the GCA combo- only measure the G and you know the...
Genome Wide Association Studies <ul><li>It became cheap to compare large populations using a 1 million SNPs by technology ...
<ul><ul><li>Cases of disease X </li></ul></ul><ul><ul><li>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 </li...
Genome Wide Association Studies <ul><ul><li>First large study to show this was for macular degeneration where a certain SN...
 
Weaknesses of GWA Studies <ul><li>Associations only, not causation </li></ul><ul><ul><li>Not always in a gene </li></ul></...
Copy Number Variant <ul><li>When multiple people were fully sequenced, there were more differences in the number of copies...
Extra/Missing copies <ul><li>Charcot Marie Tooth disease (foot neuropathy with poor sensation) </li></ul><ul><ul><li>When ...
Copy Number Variant <ul><li>Many more dosage effects noted especially with deletions leading to mental retardation and sei...
Then and Now and Tomorrow Cost <ul><li>Circa 2000 Human Genome Project (multi-center) cost  $3 billion  for one person’s w...
Then and Now and Tomorrow Time <ul><li>Circa 2000 </li></ul><ul><ul><li>Human Genome Project took  9 years </li></ul></ul>...
Then and Now and Tomorrow Comparison to Others <ul><li>Circa 2000 </li></ul><ul><ul><li>No comparison on sequence availabl...
Sequencing <ul><li>Shortcut </li></ul><ul><ul><li>Exon sequencing: only looking at the “functional” part of the genome tha...
Sequencing <ul><li>Whole genome sequencing </li></ul><ul><ul><li>Enormous amount of data (5TB at poor quality sequencing) ...
Relative Risk/ Absolute Risk <ul><li>Important concept to understand with genetic risk factors </li></ul><ul><ul><li>Analo...
Relative Risk/ Absolute Risk <ul><li>Relative risk- risk on comparison to someone else </li></ul><ul><ul><li>E.g. smokers ...
Relative Risk/ Absolute Risk <ul><li>Example </li></ul><ul><li>Celiac disease </li></ul><ul><ul><li>There are certain HLA ...
Relative Risk/ Absolute Risk <ul><li>Prevention example </li></ul><ul><li>Celiac disease </li></ul><ul><ul><li>However, wi...
Relative Risk <ul><li>Risk and protection </li></ul><ul><li>As more about the genome is known, genetic relative risk will ...
Relative Risk <ul><li>Risk is a continuum </li></ul>But dependent on baseline risk (1.5%) RR= 1.5 Absolute risk- 2.25% RR=...
Relative Risk <ul><li>Risk is a continuum </li></ul><ul><li>RR= 1.5 </li></ul><ul><li>50% increase risk </li></ul><ul><li>...
Relative Risk <ul><li>Risk is a continuum </li></ul><ul><li>RR= 1.5 </li></ul><ul><li>50% increase risk </li></ul><ul><li>...
Relative Risk <ul><li>Risk is a continuum </li></ul>So a SNPs changes that increase risk could be offset by behavioral cha...
Comparison to Other Risk Stratification <ul><li>Framingham Heart study </li></ul><ul><ul><li>Using 10 year risk for corona...
<ul><li>Framingham Heart study </li></ul><ul><ul><li>Revolutionized cardiac care </li></ul></ul><ul><ul><ul><li>Cholestero...
<ul><ul><li>Recent study through the Women’s Health Initiative (WHI) has shown that genetic SNP markers do not change risk...
Direct to Consumer Companies <ul><li>In 2008, three companies that offered SNP panels directly to the public </li></ul><ul...
Direct to Consumer Companies <ul><li>Various SNPs used </li></ul><ul><ul><li>Different results dependent on which company ...
Direct to Consumer Companies <ul><li>Bypass physician orders and therefore put the “power” in the patients’ hands </li></u...
Preventative Health <ul><li>Multiple studies have showed some effect from knowing risk influencing patient behavior </li><...
Do you feel comfortable talking to a patient if they bring in a report like this to you…
<ul><li>But very important to differentiate genomic testing from “traditional genetic” testing for highly penetrate, Mende...
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Genomics

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Genomics

  1. 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
  2. 2. Genetics and Genomics <ul><li>Genetics </li></ul><ul><ul><li>Rare disease oriented </li></ul></ul><ul><ul><li>Single gene </li></ul></ul><ul><ul><li>Absolute risk </li></ul></ul><ul><ul><li>Direct results </li></ul></ul><ul><ul><li>Examples: Breast cancer and BRCA1/2: 70-80% chance of developing breast or ovarian cancer </li></ul></ul><ul><li>Genomics </li></ul><ul><ul><li>Common disease oriented </li></ul></ul><ul><ul><li>Multiple genes </li></ul></ul><ul><ul><li>Relative risk </li></ul></ul><ul><ul><li>Currently indirect inference </li></ul></ul><ul><li>Example: Celiac disease and HLA type: at highest 6% chance of developing celiac disease </li></ul>
  3. 3. Genes <ul><li>Humans have only about 23,000 genes in 6 billion base pairs (2 copies) </li></ul><ul><ul><li>FYI: Frogs and wheat have more genes </li></ul></ul><ul><li>Humans are about 99.5% similar to each other </li></ul><ul><ul><li>About 3 million base pairs on average difference </li></ul></ul>
  4. 4. Some Differences Travel Together <ul><li>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 </li></ul><ul><li>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 </li></ul><ul><li>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 </li></ul><ul><li>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 </li></ul><ul><li>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 </li></ul><ul><li>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 </li></ul><ul><li>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 </li></ul><ul><li>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 </li></ul><ul><li>Take a small stretch of DNA- the differences tend to be common differences between any two people </li></ul><ul><li>If you have a G at position 5, you will have a C at 13 and an A at 25; if you have a T at position 5, it is an A and G respectively </li></ul>
  5. 5. HAP-MAP Project <ul><li>Too expensive to look at every single base pair, so a short cut was developed- look at the areas that are different </li></ul><ul><li>Hap-Map project looked first at four ethnically diverse populations and then compared them as to which changes traveled together </li></ul>
  6. 6. Single Nucleotide Polymorphism <ul><li>Caucasians from Utah have mostly the GCA combo- only measure the G and you know the other two spots </li></ul><ul><li>Yoruba from western Africa have the TAG combo- only measure the T and you know the other two spots </li></ul><ul><li>This reduced the number of places you had to look to look for differences down to about 1 million s ingle n ucleotide p olymorphisms (SNPs) </li></ul>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
  7. 7. Genome Wide Association Studies <ul><li>It became cheap to compare large populations using a 1 million SNPs by technology on a chip platform </li></ul><ul><ul><li>About $1000 x 10,000 samples would cost= $10 Million to tell the common differences between cases and controls </li></ul></ul><ul><ul><li>Cases of disease X </li></ul></ul><ul><ul><li>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 </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- A -T-A </li></ul></ul><ul><ul><li>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 </li></ul></ul><ul><ul><li>A- T -C-T-A-G- C -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- A -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- A -T-A </li></ul></ul><ul><ul><li>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 </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- A -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- A -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- C -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>Controls without disease X </li></ul></ul><ul><ul><li>A- T -C-T-A-G- C -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- C -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- C -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- A -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- C -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- C -T-A </li></ul></ul>
  8. 8. <ul><ul><li>Cases of disease X </li></ul></ul><ul><ul><li>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 </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- A -T-A </li></ul></ul><ul><ul><li>A- A -C-T-A-G- C -T-A-A-G-T-G-A-C- A -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>Controls without disease X </li></ul></ul><ul><ul><li>A- T -C-T-A-G- G -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- A -C-T-A-G- C -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><ul><li>A- T -C-T-A-G- C -T-A-A-G-T-G-A-C- G -A-C-G-T-G-G-C- C -T-A </li></ul></ul><ul><li>SNP #16- A appears to increase risk for the disease </li></ul><ul><li>Maybe SNP #24 also but less frequently </li></ul>Genome Wide Association Studies
  9. 9. Genome Wide Association Studies <ul><ul><li>First large study to show this was for macular degeneration where a certain SNP, tripled your risk for the development of wet macular degeneration (Odds ratio of 3.5) </li></ul></ul><ul><ul><ul><li>The SNP was in a gene associated with inflammation so this made some biological sense </li></ul></ul></ul><ul><ul><li>However, no studies have achieved this same significant odds ratio- most show a modest increase between 1.2 and 2 [see primer on risk assessment] </li></ul></ul><ul><ul><li>But it was relatively cheap (now less than $500) and easy to do </li></ul></ul>
  10. 11. Weaknesses of GWA Studies <ul><li>Associations only, not causation </li></ul><ul><ul><li>Not always in a gene </li></ul></ul><ul><li>Replication is absolute requirement </li></ul><ul><ul><li>Need large populations to pick out small effects (more than 50,000 patients plus controls) </li></ul></ul><ul><li>Dependent on the data collected </li></ul><ul><ul><li>Significant problem with definition of schizophrenia in older studies </li></ul></ul><ul><li>Not applicable to non-Europeans as of now </li></ul><ul><li>Not consistent with evolution theory </li></ul>
  11. 12. Copy Number Variant <ul><li>When multiple people were fully sequenced, there were more differences in the number of copies of some genes than in the sequence of the gene </li></ul><ul><li>Multiple copies of the gene influence regulation and may allow minor mutations to go unnoticed </li></ul>
  12. 13. Extra/Missing copies <ul><li>Charcot Marie Tooth disease (foot neuropathy with poor sensation) </li></ul><ul><ul><li>When you have missing copy of the PMP22 gene </li></ul></ul><ul><li>Hereditary neuropathy with liability to pressure palsy (hereditary carpel tunnel syndrome) </li></ul><ul><ul><li>When you have an extra copy of the PMP22 gene </li></ul></ul>
  13. 14. Copy Number Variant <ul><li>Many more dosage effects noted especially with deletions leading to mental retardation and seizures disorders </li></ul><ul><li>Now seeing links to autism as well </li></ul><ul><li>But can be protective as was occurs with Spinal Muscular Atrophy where an “old” version of the gene has some protective effects if the primary copy has a mutation </li></ul>
  14. 15. Then and Now and Tomorrow Cost <ul><li>Circa 2000 Human Genome Project (multi-center) cost $3 billion for one person’s whole sequence (poor quality) </li></ul><ul><li>2010 </li></ul><ul><ul><li>Can do in a commercial lab for around $15000 (low quality) </li></ul></ul><ul><li>Circa 2015 </li></ul><ul><ul><li>Will do in an office setting for less than $500 (high quality) </li></ul></ul>
  15. 16. Then and Now and Tomorrow Time <ul><li>Circa 2000 </li></ul><ul><ul><li>Human Genome Project took 9 years </li></ul></ul><ul><li>2010 </li></ul><ul><ul><li>Can do in a commercial lab for in about 6-10 weeks </li></ul></ul><ul><li>Circa 2015 </li></ul><ul><ul><li>Will do in an office setting in 15 minutes </li></ul></ul>
  16. 17. Then and Now and Tomorrow Comparison to Others <ul><li>Circa 2000 </li></ul><ul><ul><li>No comparison on sequence available </li></ul></ul><ul><li>2010 </li></ul><ul><ul><li>About 5000 people have been fully sequenced </li></ul></ul><ul><li>Circa 2015 </li></ul><ul><ul><li>More than 100 million people will likely be sequenced </li></ul></ul>
  17. 18. Sequencing <ul><li>Shortcut </li></ul><ul><ul><li>Exon sequencing: only looking at the “functional” part of the genome that codes proteins </li></ul></ul><ul><ul><ul><li>Very popular because it is cheaper and more focused than sequencing everything </li></ul></ul></ul><ul><ul><ul><li>In several diseases the gene/genetic mutation has been found (rare diseases) </li></ul></ul></ul>
  18. 19. Sequencing <ul><li>Whole genome sequencing </li></ul><ul><ul><li>Enormous amount of data (5TB at poor quality sequencing) </li></ul></ul><ul><ul><li>Not enough “normal” samples to compare to currently therefore changes are hard to interpret </li></ul></ul><ul><ul><li>But this will improve and get cheaper and faster and some day we will get a flash drive with every base pair (all 6 billion) to interpret and decipher </li></ul></ul>
  19. 20. Relative Risk/ Absolute Risk <ul><li>Important concept to understand with genetic risk factors </li></ul><ul><ul><li>Analogy by Francis Collins of the NIH of “genes as the gun but environment is the trigger” </li></ul></ul><ul><li>Very few genetic conditions are absolutes- just because you have the genetic change you may or may not develop disease </li></ul><ul><ul><li>Few exceptions such as Huntington disease (HD) or Familial Adenomatous Polyposis (FAP) </li></ul></ul>
  20. 21. Relative Risk/ Absolute Risk <ul><li>Relative risk- risk on comparison to someone else </li></ul><ul><ul><li>E.g. smokers and non-smokers; abnormal gene carriers and normal gene carriers </li></ul></ul><ul><li>Absolute risk- risk compared to yourself </li></ul><ul><ul><li>Risk that you/patient will develop the disease </li></ul></ul>
  21. 22. Relative Risk/ Absolute Risk <ul><li>Example </li></ul><ul><li>Celiac disease </li></ul><ul><ul><li>There are certain HLA types that increase your risk for celiac disease </li></ul></ul><ul><ul><ul><li>If you do not have one of the these HLA types, you apparently cannot develop celiac disease </li></ul></ul></ul><ul><ul><li>The highest risk group has a 10x increase in risk (relative risk) </li></ul></ul><ul><ul><ul><li>Absolute risk of developing celiac is only 6% </li></ul></ul></ul>
  22. 23. Relative Risk/ Absolute Risk <ul><li>Prevention example </li></ul><ul><li>Celiac disease </li></ul><ul><ul><li>However, with a known relative risk you can take action to prevent the development or early diagnosis of celiac disease </li></ul></ul><ul><ul><ul><li>Know symptoms/signs to look for </li></ul></ul></ul><ul><ul><ul><li>Avoid high gluten diet </li></ul></ul></ul>
  23. 24. Relative Risk <ul><li>Risk and protection </li></ul><ul><li>As more about the genome is known, genetic relative risk will become both risk and protective factors </li></ul>RR <1: protective RR >1: risk R=1 no relationship
  24. 25. Relative Risk <ul><li>Risk is a continuum </li></ul>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% <ul><li>RR= 1.5 </li></ul><ul><li>50% increase risk </li></ul><ul><li>1.5 times more likely because of risk factor </li></ul><ul><li>RR= 5 </li></ul><ul><li>400% increase risk </li></ul><ul><li>5 times more likely because of risk factor </li></ul><ul><li>RR= 2 </li></ul><ul><li>100% increase risk </li></ul><ul><li>2 times more likely because of risk factor </li></ul>
  25. 26. Relative Risk <ul><li>Risk is a continuum </li></ul><ul><li>RR= 1.5 </li></ul><ul><li>50% increase risk </li></ul><ul><li>1.5 times more likely because of risk factor </li></ul><ul><li>RR= 5 </li></ul><ul><li>400% increase risk </li></ul><ul><li>5 times more likely because of risk factor </li></ul><ul><li>RR= 2 </li></ul><ul><li>100% increase risk </li></ul><ul><li>2 times more likely because of risk factor </li></ul>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%
  26. 27. Relative Risk <ul><li>Risk is a continuum </li></ul><ul><li>RR= 1.5 </li></ul><ul><li>50% increase risk </li></ul><ul><li>1.5 times more likely because of risk factor </li></ul><ul><li>RR= 5 </li></ul><ul><li>400% increase risk </li></ul><ul><li>5 times more likely because of risk factor </li></ul><ul><li>RR= 2 </li></ul><ul><li>100% increase risk </li></ul><ul><li>2 times more likely because of risk factor </li></ul>Plus additive/multiplicative risk and protective factors that individually might be small but collectively have a large effect over time
  27. 28. Relative Risk <ul><li>Risk is a continuum </li></ul>So a SNPs changes that increase risk could be offset by behavioral changes that decrease risk. <ul><li>RR= 0.1 </li></ul><ul><li>900% increase decreased </li></ul><ul><li>10 times less likely because of protective factor </li></ul><ul><li>RR= 0.5 </li></ul><ul><li>100% decreased risk </li></ul><ul><li>1/2 times less likely because of protective factor </li></ul><ul><li>RR= 0.33 </li></ul><ul><li>200% decreased risk </li></ul><ul><li>2/3 times less likely because of protective factor </li></ul>
  28. 29. Comparison to Other Risk Stratification <ul><li>Framingham Heart study </li></ul><ul><ul><li>Using 10 year risk for coronary heart disease </li></ul></ul><ul><ul><ul><li>Showed age, LDL, cholesterol, HDL, BP, diabetes, smoking status all influenced risk </li></ul></ul></ul><ul><ul><li>Modest relative risks </li></ul></ul><ul><ul><li>Continuum of risk and protective effects that are additive/ multiplicative </li></ul></ul>Age RR 50-54 2 LDL >190 1.6 HDL <35 1.6 SBP <160 3 Diabetes 1.6 Smoker 1.6
  29. 30. <ul><li>Framingham Heart study </li></ul><ul><ul><li>Revolutionized cardiac care </li></ul></ul><ul><ul><ul><li>Cholesterol reduction </li></ul></ul></ul><ul><ul><ul><li>Blood pressure control </li></ul></ul></ul><ul><ul><ul><li>Diabetes control </li></ul></ul></ul><ul><ul><ul><li>Smoking cessation </li></ul></ul></ul><ul><ul><ul><li>Indications for cardiac catherization </li></ul></ul></ul>Comparison to Other Risk Stratification Subject to pharmaceutical and lifestyle interventions Conservatively a $100 billion industry
  30. 31. <ul><ul><li>Recent study through the Women’s Health Initiative (WHI) has shown that genetic SNP markers do not change risk as much as the known environmental risk factors…. </li></ul></ul><ul><ul><li>But we do not know the additive/multiplicative/ protective effects that are being measured as of now </li></ul></ul>Comparison to Other Risk Stratification
  31. 32. Direct to Consumer Companies <ul><li>In 2008, three companies that offered SNP panels directly to the public </li></ul><ul><li>In 2010, more than 30 companies that offer SNP panels to the public plus a few that offer full genome sequencing… </li></ul>
  32. 33. Direct to Consumer Companies <ul><li>Various SNPs used </li></ul><ul><ul><li>Different results dependent on which company you use: higher/lower risk, less than population risk/greater than population risk </li></ul></ul><ul><li>Various interpretations </li></ul><ul><li>Some are medically-oriented* but some are “fun fact” </li></ul><ul><ul><li>Does your urine smell if you have asparagus is given the same analysis as for colon cancer risk related SNPs </li></ul></ul>* Many have a disclaimer that the information gained is not for medical use
  33. 34. Direct to Consumer Companies <ul><li>Bypass physician orders and therefore put the “power” in the patients’ hands </li></ul><ul><ul><li>Can be a boon if patients use this information to make lifestyle changes that positively impact health </li></ul></ul><ul><ul><li>Can be a bust if patients use this information to think they are protected from a disease or unnecessarily worry about low absolute risk </li></ul></ul>
  34. 35. Preventative Health <ul><li>Multiple studies have showed some effect from knowing risk influencing patient behavior </li></ul><ul><ul><li>But generally highly motivated patient population </li></ul></ul><ul><ul><li>No studies with intensive interventions with “high” risk populations (e.g. medication or surgery) </li></ul></ul>
  35. 36. Do you feel comfortable talking to a patient if they bring in a report like this to you…
  36. 37. <ul><li>But very important to differentiate genomic testing from “traditional genetic” testing for highly penetrate, Mendellian disorders that have specific therapeutic interventions available whether for cancer syndromes, cardiac disorders or any number of other disorders </li></ul><ul><ul><li>IF IN DOUBT, CONTACT A SPECIALIST TO FIND OUT </li></ul></ul>

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