Mainstreaming Genetic Medicine: A Golden Opportunityfor Genetic Counselors
National Society for Genetic Counselors
November 4, 2001
Francis S. Collins, M.D., Ph.D.
Mar 1999Mar 1999Apr 1999Mar 1999Apr 1999
May 1999
Mar 1999Apr 1999
May 1999Jun 1999
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999Nov 1999
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999Nov 1999Dec 1999
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999Nov 1999Dec 1999Jan 2000
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999Nov 1999Dec 1999Jan 2000Feb 2000
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999Nov 1999Dec 1999Jan 2000Feb 2000Mar 2000
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999Nov 1999Dec 1999Jan 2000Feb 2000Mar 2000Apr 2000
Mar 1999Apr 1999
May 1999Jun 1999Jul 1999
Aug 1999Sep 1999Oct 1999Nov 1999Dec 1999Jan 2000Feb 2000Mar 2000Apr 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 ofother critters
Male mutation rate is twice that of females
“Junk” DNA contains the remnants and raw materials for evolution
Comparative Genomics
Proteomics
Functional Genomics
Fulfilling the Promise of Genomics for Better Health
Medical Genomics
Positional cloning of a gene for a highly penetrant Mendeliandisorder is now straightforward –
but tracking genetic susceptibility factors for non-Mendelian disorders continues to be vexing
Association is much more powerful than linkage to identify common susceptibility variants
• Risch and Merikangas, Science 273: 1516-1517, 1996
But until now, association studies have only been practical when a candidate gene was suspected
-- and usually we’re not smart enough to pick the right candidates
Haplotypes from 258 chromosomes on 5q31Daly et al., Nature Genetics Oct. 2001
~ 60 kb
SIMMap:A New Map of Human Shared
Inheritance for Medicine• Goal is to define all common haplotypes
• Genome-wide association studies can then be done with a “gold standard” set of SNPs that define common alleles
• Pilot studies underway to determine how many populations to sample, and best strategy for defining haplotype blocks
Experience in CF carrier screeningat Kaiser Permanente
(Witt and Coppinger, ASHG)
• Screened 27,000 women in a large HMO for 37 CFTR mutations
• 1/28 found to be a CF carrier• Only 10% of carriers wanted face-to-face
counseling• 63% were F508, 12% R117H• Complexities: counseling for mild mutations,
5T/7T/9T in intron 9, asymptomatic women with two CF mutations,…..
Gleevec™ – Specifically TargetsAn Abnormal Protein, Blocking Its Ability To Cause Chronic Myeloid Leukemia
Chromosome 9;22 translocation
CML
Bcr-Abl fusion protein
Gleevec™
Bcr-Abl fusion protein
Normal
Who will practicegenomic medicine?
Arguments against mainstreaming of clinical genetic services:
• Most primary care providers (PCPs) lack training in genetics, and display little interest in learning these skills
• PCPs are likely to be more directive• PCPs may focus on individual, ignore family• Managed care places tight time constraints on PCP
visits• Medical geneticists and genetic counselors will be
negatively affected
Arguments in favor of mainstreaming of clinical genetic services:
• Demand for services will exceed capability of specialists
• Integrates genetic services with comprehensive holistic longitudinal medical management
• Incorporates genetic information into pre-existing models of health behavior modification
• Provides a better opportunity for provision of genetic services to diverse segments of society
Prior examples where specialty fields have been positively affected by
mainstreaming the basic discipline
• Infectious disease
• Nutrition
• Human development
• Diabetes care
• Seizure management
The best way to predict the
future, is to create it.
Peter Drucker
New and interesting roles for genetic counselors:
• Training primary care providers in provision of basic genetic services
• Developing new models for providing services and conveying risk information
• Establishing referral networks for primary care providers• Coordinating research studies that connect genotypes with
phenotypes• Advising biotechnology, diagnostic, and pharmaceutical
companies• Providing advice to government – FDA, NIH, HRSA,
CMMS, Congress
National Coalition for Health Professional Education in
Genetics (NCHPEG)
Executive Director: Joe McInerney
www.nchpeg.org
Difficult problems:• Developing more cost-effective ways of
delivering quality genetic services – is our time-intensive model a luxury that cannot be sustained?
• Achieving adequate reimbursement – will involvement of PCPs increase or decrease the overall likelihood of financial compensation for genetic services?
Progress is like a storekeeper. You can
have anything you want, but you have to
pay the price. You can have the airplane,
but the birds will lose their wonder, and
the clouds will smell of gasoline.
Clarence Darrow
2010 -- Predictive genetic tests available for a dozen conditions
-- Interventions to reduce risk available for several of these
-- Will reasonably effective legislative solutions to genetic discrimination be in place?
BUT….
Mainstreaming of individualized preventive medicine
-- Who will deliver services? How will they be reimbursed? Will access be inequitable?
-- Pharmacogenomics is standard of care for several drugs
2020 -- Gene-based designer drugs available for diabetes, Alzheimer’s…
-- Gene therapy standard of care for several conditions
-- Major anti-technology movements active in US, elsewhere
BUT….
Genomic therapeutic revolution in full swing
-- Intense debate underway on non-medical uses of genetics
-- Sequencing a complete human genome costs $5,000 or less
2030 -- Preventive and therapeutic strategies available for most diseases
-- Illnesses detected early by molecular surveillance
BUT….
Genomics-based health care is the norm
-- Social Security goes under as average life expectancy reaches 90
Skate where the puckis gonna be.
Wayne Gretzky