Genetics/Genomics in Public Health. Role of Clinical and Biochemical Geneticists in Public Health
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1 Genetics/Genomics in Public Health Role of Clinical and Biochemical Geneticists in Public Health
2 Premises Human variation is vast Strength of genetic factors are a continuum from low to high Testing technology is moving us towards whole genome analysis Analytical methods getting easier; not clinical interpretations Role of IT increases (in lab vs. in silico) Personalized medicine: the absurdity of the statistical n of 1
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4 Single Gene or Chromosomal α α α α ß ß ß s ß s ß glutamic acid GAG ß s valine GTG
5 Current Validity of Genetic Tests Varies With Strength of Genetic Factors (1) Rare Mendelian diseases Thousands affecting ~5% of population Strong deterministic genetic factors Weak environmental influences Variable expression Begin as diagnostic tests High familial recurrence risks May be presymptomatic tests Huntington disease
6 Current Validity of Genetic Tests Varies With Strength of Genetic Factors (2) Moderate to strong genetic susceptibilities Account for ~ 5% of common diseases (e.g., BRCA1-2, HNPCC, cardiovascular disease, Parkinsons) Pharmacogenetics (also rare alleles) Often involve larger numbers of people and, as such, cost
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8 Current Validity of Genetic Tests Varies With Strength of Genetic Factors (3) Garden variety common chronic diseases Weak genetics (per gene) for common variants Shift is to rare allele search by sequencing Strong environmental Low relative risk alleles by GWAS Hope is for combinatorial power Hype is current scenario Typically can involve very large numbers of people and costs
9 DTC Genetics: From Healthcare to Trivial Pursuits
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11 Educators Genetics Health Policy Informatics Primary Care Physicians Patients Chemistry Bioethics Engineering
12 Roles of Medical Geneticists See the lions share of rare disease patients Provide laboratory developed tests Deliver family-based medicine See patients; develop clinical histories Guidelines clinical decision support tools Basis for public health decision making
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14 46 45 Core 29 (21) DC 50+ Disorders (9) Disorders (17) Disorders (18) Disorders (2) Disorders (5) 5-9 Disorders (0) 5 Disorders (0) U.S. Newborn Screening 2009 No. of mandatory disorders screened for in the United States
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16 DNA sequence RNA protein metabolites Genome Transcriptome Proteome Metabolome $ = Econome Human Genome Perspectives: Classical
17 Genome Organization Biological Pathways Transcriptional Regulation Metabolic Networks Human Genome: Modern Perspective
18 Two Convergent Forces Information Technology Genetics Individualized Medicine Predictive testing and prevention Stratification of disease and targeted treatments Pharmacogenetics/Pharmacogenomics Medicine in Transformation
19 So. What Can We Do Now? Improve evidence base for rare genetic disease Education Address significant work force deficiencies Collaborate (i.e., bridge the chasms identified by the IOM)
20 The Next Big Logjam in the Improvement of Newborn Screening National Coordinating Center for Regional Genetics and Newborn Screening Collaboratives $4 million contract to ACMG from Health Resources and Services Administration Includes development of systems for long-term followup of NBS cases Newborn Screening (and Genetics) Translational Research Network (NBSTRN) $13.5 million contract to ACMG from the US National Institutes of Health Developing research infrastructure to improve NBS
21 Newborn Screening Translational Research Network Grants (NBS Therapies) Gal, SMA, CMV, Globoid-cell leukodyst NBS Registries Candidate Disease Registries Contract (NBS Technologies) MS/MS NBS for LSDs; Luminex bead array platform for Gal, MCAD, Biot, Hearing loss NBS Translational Research Network Coordinating Center Grants (Investigator- Initiated) Steering Committee Clinical Research Centers State NBS Labs/ Diagnostic Labs
22 Diagnostic Genomics Capturing the Data Hummel et al. New Engl J Med 2006;354:2419
23 Informatics Needs Integration of family history into electronic record Point of care guide to genetic testing and decision support Genotypic and phenotypic databases Biobanks
24 Clinical Data Tissue Repository Imaging Genotypic Data Phenotypic Databases Participant Education Clinical Trials Regulatory IRB Bioinformatic Tools Epidemiology Informatics Needs
25 NBSTRN Patient Care Delivery Domain Providers and Patients Clinical provider networks Patient demographics Consent Patient diagnosis and management Documentation in medical record
26 The Multi-Dimensional Medical Record prenatal present
27 NBSTRN Public Health Domain Needs provider data for: long term follow-up for program evaluation clinical history of candidate diseases to improve public health decision-making Epidemiology Surveillance Health services research Population-based biospecimen repositories
28 NBSTRN Research and Clinical Investigation Domain Clinical provider networks Developing clinical histories of NBS conditions and candidate conditions including lab and clinical Patient registries Patient biospecimen repositories Clinical trials Clinical investigation New treatments New technologies
29 Important Policy Issues Throughout Patient privacy IRBs in multicenter care delivery and research NBSTRN operating policies Privacy
30 Knowledge and Improvement Domain Biospecimen Repositories Patient Care Domain Public Health Domain
31 Newborn Screening and Genetics Translational Research Network NBSTRN Data Warehouse Standardized protocols and languages Identifiable data Deidentified data Research and Investigation Domain Point of Overlap Data from patients and providers Public Health Domain Patient Care Domain
32 Challenges To Address If We Are To Improve Newborn Screening Bridging between public health and private sector health care providers to facilitate collaboration intended to improve NBS State sovereignty Dysfunctional health care system Not jeopardizing universal screening Ensuring individual autonomy and privacy Educating the public about the value of the resources of newborn screening Residual dried blood spot card Patient information
33 April 30, 2009
34 Thank You
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