Mainstreaming Genetic Medicine: A Golden Opportunityfor Genetic Counselors

National Society for Genetic Counselors

November 4, 2001

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

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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