390 likes | 599 Views
Mainstreaming Genetic Medicine: A Golden Opportunity for Genetic Counselors. National Society for Genetic Counselors November 4, 2001 Francis S. Collins, M.D., Ph.D. Mar 1999. Mar 1999 Apr 1999. Mar 1999 Apr 1999 May 1999. Mar 1999 Apr 1999 May 1999 Jun 1999. Mar 1999 Apr 1999
E N D
Mainstreaming Genetic Medicine: A Golden Opportunityfor Genetic Counselors National Society for Genetic Counselors November 4, 2001 Francis S. Collins, M.D., Ph.D.
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
Fulfilling the Promise of Genomics for Better Health Medical Genomics Functional Genomics Proteomics Comparative 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 5q31 Daly et al., Nature Genetics Oct. 2001
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 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
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
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?
2010 Mainstreaming of individualized preventive medicine -- Predictive genetic tests available for a dozen conditions -- Interventions to reduce risk available for several of these -- Pharmacogenomics is standard of care for several drugs BUT…. -- Who will deliver services? How will they be reimbursed? Will access be inequitable? -- Will reasonably effective legislative solutions to genetic discrimination be in place?
2020 Genomic therapeutic revolution in full swing -- Gene-based designer drugs available for diabetes, Alzheimer’s… -- 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 -- Major anti-technology movements active in US, elsewhere
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 reaches 90