A Healthcare Revolution:
How Advances in Genomics Will Change
Health Care in the New Century
Francis S. Collins, M.D., Ph.D.
Director,
National Human Genome Research Institute
There are no perfect genetic specimens
All of us carry an estimated 5-50
significant gene flaws
Applications of Genetic Tests
Confirm a suspected clinical diagnosis
Detect a carrier for a recessive disease
Prenatal diagnosis
Newborn screening
Susceptibility testing for a healthy individual
Prediction of responsiveness to therapy
HEMOCHROMATOSIS
Overabsorption of iron from GI tract
Consequences:
Cirrhosis
Heart failure
Diabetes
Arthritis
Autosomal recessive with 1:300 homozygous
Most due to Cys
Tyr at codon 282 of HFE
Diagnosis often missed
EASILY TREATABLE
Ethical, Legal, and Social Implications
An integral component of the
Human Genome Project
Will effective legislative
solutions to genetic
discrimination be
found?
Will we successfully shepherd
new genetic tests from
research into clinical practice?
Can health care providers
and the public become
genetically literate in time?
Will the benefits of the advances in
genetics only be available to a
privileged few?
Will we arrive at consensus
about the limits of genetic
technology for trait
enhancement?
2010
Predictive genetic tests available for a dozen conditions
Interventions to reduce risk available for several of these
Many primary care providers begin to practice genetic
medicine
Preimplantation diagnosis widely available, limits being
fiercely debated
Reasonably effective federal legislative solutions to genetic
discrimination and privacy in place in US
Access remains inequitable, especially in developing world
2020
Gene-based designer drugs for diabetes, hypertension, etc.,
coming on the market
Cancer therapy is precisely targeted to molecular
fingerprint of tumor
Dx/Rx pharmacogenomic approach is standard practice
for many drugs
Mental illness diagnosis transformed, new therapies
under study, societal views shifting
Homologous recombination technology suggests
germline gene therapy could be safe
2030
Comprehensive genomics-based health care is the norm
Individualized preventive medicine available
Environmental factors, and their interaction with
genotype, pinpointed for many diseases
Illnesses are detected early by molecular surveillance
Gene therapy and gene-based drug therapy available
for many diseases
Full computer model of human cell replaces many
laboratory experiments
Average life span reaches 90 years, stressing prior
socioeconomic norms
Major anti-technology movements active in US,
elsewhere
Serious debate is underway about humans possibly
“taking charge” of their own evolution
As for the future, your task is not
to foresee, but to enable it
Antoine de Saint-Exupery