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Is Genomics the Cure for Disparities?. Francis S. Collins, M.D., Ph.D. National Leadership Summit to Eliminate Racial and Ethnic Disparities in Health January 10, 2006. What is the nature of human genetic variation?. www.hapmap.org. Genetic Variation in Africa. Spreading around the World.

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Is Genomics theCure for Disparities?

Francis S. Collins, M.D., Ph.D.

National Leadership Summit to Eliminate Racial and Ethnic Disparities in Health

January 10, 2006







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December 18, 2002

Genes expose race only

as a sham

The idea of race was not reflected in a person’s genes,

Brazilian researchers said yesterday, confirming what

scientists have long said – that race has no meaning

genetically.


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June 4, 2003

No trace of race; Genome

Sequencing Project

proves nothing biological

separates peoples


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October 1, 2002

For Sale: A DNA Test

To Measure Racial Mix

A company in Sarasota, Fla., is offering a DNA test

that it says will measure customers’ racial ancestry and

their ancestral proportions if they are of a mixed race.



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July 28, 2003

Race Plays Role in New

Drug Trials; Treatment by

Genetic Origin, Ethnicity

Divides Medical Profession



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What we know about genetics and race

  • We are all 99.9% identical at the DNA level

  • That still leaves millions of differences

  • Most of these variants were present in our common ancestors

  • But the frequency of a particular variant will often differ between populations, as a result of

    • “Genetic drift”

    • Founder effects

    • Selection

    • New mutations


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What we know about genetics and race (cont.)

  • Such differences may be used to make statistical predictions of geographic origins, but in general there will be considerable overlap between groups

  • The history of human populations is more of a trellis than a tree


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Africa Out of Africa

The “Wisteria Vine’ view

of human evolution

and diversification

© 1999 Kenneth K Kidd, Yale University


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What we know about genetics and race (cont.)

  • Except in cases of extreme geographic isolation, the genetic boundaries around population groups will be blurry and imprecise

  • When differences in prevalence of illness are observed between groups, this could be due to:

    • Genetic differences

    • Dietary, cultural, environmental, socioeconomic factors

    • A mixture of both


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ANCENTRAL

GEOGRAPHIC

ORIGINS

ENVIRONMENTAL

EXPOSURES

SELF-IDENTIFIED RACE OR ETHNICITY

VARIANTS

IN

DISEASE

GENES

EDUCATION

GENOME VARIATION

ACCESS TO HEALTH CARE

CULTURE

SOCIOECONOMIC STATUS

STRESS

HEALTH OR DISEASE


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The Case of BiDil®

  • BiDil® is a combination of two generic drugs, isosorbide dinitrate and hydralazine.

  • It acts as a nitric oxide enhancer.

  • Nitric oxide dilates blood vessels, reducing the amount of resistance the heart has to pump against.


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The Case of BiDil® (cont.)

  • BiDil® was originally tested in clinical trials for heart failure in the 1980s and 1990s.

  • It showed possible benefit, but the FDA ruled in 1997 that the results were unconvincing.

  • A retrospective analysis suggested that benefit was greatest in African American patients.

  • Patent was filed on the use of this drug for African Americans, and PTO approved it.


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The Case of BiDil® (cont.)

  • BiDil® was then tested for benefits in treating heart failure in 1100 African American men and women

  • Trial was supported by the Association of Black Cardiologists and the National Medical Association


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Survival Curve

NEJM 351:2049-2057, 2004


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The Case of BiDil® (cont.)

  • FDA approved BiDil® for the treatment of congestive heart failure in the summer of 2005

  • Indications: “BiDil is indicated for the treatment of heart failure as an adjunct to standard therapy in self-identified black patients to improve survival, to prolong time to hospitalization for heart failure, and to improve patient-reported functional status.”

  • A mixed blessing?


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Summary

  • “Race” is a term which carries a great deal of baggage; the use of more precise definitions would assist our societal dialogue

  • Much is being learned about worldwide genetic variation that informs us of our shared heritage

  • Neither of these statements is correct:

    • Race has absolutely no biological basis

    • Genetics allows us to draw sharp boundaries between groups

  • To understand and prevent health disparities, we should seek more proximate causes, not depend on the muddy proxies of race and ethnicity


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Is Genomics theCure for Disparities?

  • Probably not

  • But in some instances, genomics may identify heritable factors that play a role, though almost always in concert with environmental factors

  • We need more data


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