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The Human Genome Project And The Future of Medicine. March of Dimes 2001 National Volunteer Leadership Conference October 12, 2001 Francis S. Collins, M.D., Ph.D. Cystic fibrosis. Neural tube defects. Neonatal sepsis. Mar 1999. Mar 1999 Apr 1999. Mar 1999 Apr 1999 May 1999. Mar 1999
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The Human Genome Project And The Future of Medicine March of Dimes 2001 National Volunteer Leadership Conference October 12, 2001 Francis S. Collins, M.D., Ph.D.
Cystic fibrosis Neural tube defects Neonatal sepsis
Mar 1999 Mar 1999 Apr 1999 Mar 1999 Apr 1999 May 1999 Mar 1999 Apr 1999 May 1999 Jun 1999 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Nov 1999 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Nov 1999 Dec 1999 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Nov 1999 Dec 1999 Jan 2000 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Nov 1999 Dec 1999 Jan 2000 Feb 2000 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Nov 1999 Dec 1999 Jan 2000 Feb 2000 Mar 2000 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Nov 1999 Dec 1999 Jan 2000 Feb 2000 Mar 2000 Apr 2000 Mar 1999 Apr 1999 May 1999 Jun 1999 Jul 1999 Aug 1999 Sep 1999 Oct 1999 Nov 1999 Dec 1999 Jan 2000 Feb 2000 Mar 2000 Apr 2000 May 2000 Human Genome Sequencing
A SAMPLING OF COOL THINGS ABOUT THE GENOME Humans have fewer genes than expected Human genes make more proteins than those of other critters Male mutation rate is twice that of females “Junk” DNA contains the remnants and raw materials for evolution
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
Gleevec™ – Specifically Targets • An Abnormal Protein, Blocking • Its Ability To Cause Chronic Myeloid Leukemia Chromosome 9;22 translocation Bcr-Ablfusion protein Bcr-Ablfusion protein Gleevec™ Normal CML
Walter Ruth Ellen It’s 2010. How should Ellen’s severe asthma be treated? And how can we increase the chances her parents will remain healthy?
Testing for Ellen focuses on choosing the best treatment for her asthma Testing for Walter and Ruth focuses on 12 conditions where interventions are available to reduce risk
Ellen: Genetic testing indicates the most commonly used asthma inhaler will not work well Choose a new gene-based alternate therapy
Walter: Increased risk for colon cancer Begin colonoscopy at age 40 Ruth: Affected (but no symptoms yet) with hemochromatosis Begin periodic phlebotomy to keep iron stores down
2010 Mainstreaming of genomic medicine -- Individualized preventive medicine available for many conditions -- Genetic contributions to birth defects nearly all identified -- Pharmacogenomics is standard of care for several drugs BUT…. -- Will access be inequitable? Will health disparities persist? -- Will reasonably effective legislative solutions to genetic discrimination be in place?
“Genetic discrimination is unfair to workers and their families… To deny employment or insurance to a healthy person based only on a predisposition violates our country's belief in equal treatment and individual merit.” President George W. Bush June 23, 2001
2020 Genomic therapeutic revolution in full swing -- Gene-based designer drugs available for diabetes, heart disease,… -- Gene therapy standard of care for several conditions -- Sequencing a complete human genome costs $5,000 or less BUT…. -- Intense debate underway on non-medical uses of genetics
2030 Genomics-based health care is the norm -- Preventive and therapeutic strategies available for most diseases -- Illnesses detected early by molecular surveillance BUT…. -- Social Security goes under as average life expectancy increases
We shall not cease from exploration. And the end of all our exploring will be to arrive where we started, and know the place for the first time. -- T.S. Eliot