1 / 36

Finding a Genetics Laboratory: The U.S. Experience First International Conference on

Finding a Genetics Laboratory: The U.S. Experience First International Conference on Rare Diseases and Orphan Drugs Stockholm, Sweden 2005 Roberta A Pagon, MD University of Washington, Seattle. Introduction to. Availability of Genetic Testing Future Directions. www.genetests.org.

dinh
Download Presentation

Finding a Genetics Laboratory: The U.S. Experience First International Conference on

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Finding a Genetics Laboratory: The U.S. Experience First International Conference on Rare Diseases and Orphan Drugs Stockholm, Sweden 2005 Roberta A Pagon, MD University of Washington, Seattle

  2. Introduction to • Availability of Genetic Testing • Future Directions

  3. www.genetests.org PRINCIPAL INVESTIGATOR: Roberta A Pagon, MD FUNDED BY National Institutes of Health Contract No. N01-LM-3503 SPONSORING INSTITUTION University of Washington Seattle, WA

  4. DNA Testing in Early 1990’s • Human Genome Project: Accelerating gene discovery • Molecular genetic testing: High complexity, rare diseases, • often one laboratory only • Finding a laboratory: Required “memory, colleagues, literature, • and luck” • 1993 Helix (now GeneTests Laboratory Directory = "Yellow Pages") • 1997 GeneClinics (now GeneReviews = "User's Manual") • - Free: Government-funded, university-based • - Audience: Healthcare professionals

  5. GeneReviews • Genetic disease descriptions • 285 Reviews (Feb 2005) • One new Review added each week • Expert-authored, peer-reviewed • Current information on genetic test use in diagnosis, • management, genetic counseling • Links to genomic databases, patient resources, • PubMed citations, policy statements/guidelines

  6. International Laboratory Directory • ~600 Clinical and research laboratories • ~1050 Inherited diseases • ~700 clinical tests • ~350 research only

  7. Genetics and Prenatal Diagnosis Clinics • United States: ~ 1000 Clinics • International:~ 100 Clinics

  8. Educational Materials • Genetic counseling and testing concepts • PowerPoint presentations on genetic testing issues • Illustrated Glossary of >220 terms

  9. FAP

  10. Summary Diagnosis Clinical Description Differential Diagnosis Management Genetic Counseling Molecular Genetics Resources References

  11. Molecular Genetic Testing Test Method Mutation Detection Rate Test Availability Sequence analysis ~95% Mutation scanning and protein truncation ~80-90% Clinical testing (PTT) Protein truncation ~80% Testing (PTT)

  12. FAP

  13. Clinical confirmation of mutations identified in a research lab Sequencing of entire coding region Prenatal diagnosis Protein truncation testing Mutation scanning

  14. FAP

  15. Behavior Disorder (15) Endocrine (91) Liver (62) Blood (97) Eye (259) Premature Aging (5) Skeletal Bone (216) Gastrointestinal (90) Pulmonary (49) Cancer (82) Genitourinary (99) Mitochondrial (16) Connective Tissue (34) Growth (119) Metabolic (225) Craniofacial (184) Heart (162) Neurologic (All)(907) Deafness (122) Immune (36) Skin (210) Dental (32) Renal (86) Vascular (40) Ear (11) Limb Malformation (76) Genetics in Specialty Care : Feature Search* *Clinical laboratories

  16. Genetics in Specialty Care Neurologic (907) : Feature Search* Ataxia (75) Dementia (33) Lethargy/Coma (28) Mental Illness (26) Mental Retardation (212) Motor Neuron (11) Movement Disorder (68) Myopathy (91) Neuropathy (49) Seizures (127) Spasticity (143) Autonomic Dysfunction (5) Brain Tumor (9) Headache (9) Hyptonia (75) Stroke (7) Structural Brain Malformation (39) *Clinical laboratories

  17. Introduction to • Availability of Genetic Testing • Future Directions

  18. Laboratories Tests : Number of Tests and Laboratories 1100 1000 900 800 700 600 500 400 300 200 100 0 1993 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003 2004 Data source: GeneTests database (2004) / www.genetests.org

  19. Most laboratories only test for a few • diseases. • For many diseases only one laboratory • provides testing.

  20. Number of Clinical Laboratories by Number of Diseases Number of Clinical Laboratories 2001 2005 • 290 Laboratories • 454 Diseases • 577 Laboratories • 785 Diseases >30 Number of Diseases Tested

  21. : Research Testing Only 2005

  22. U.S. and Canada: Emphasis on inclusiveness Other International: Emphasis on rare diseases : Clinical and Research Laboratories 2005 (N = 577) 2001 (N = 498) 85 (17%) Other International 145 (25%) Other International 33 (7%) Canada 377 (76%) U.S. 390 (68%) U.S. 42 (7.3%) Canada

  23. : International Laboratories (N=145)* 22 Germany 19 United Kingdom 11 Netherlands 9 Italy 7 France, Spain 6 Belgium, Japan, Switzerland 5 Israel, Australia 4 Argentina, Czech Republic, New Zealand 3 Turkey 2 Chile, Cyprus, Denmark, Finland, Norway, Portgual, Sweden 1 Austria, Brazil, Greece, India, Korea, Malta, Poland, Russia, Saudi Arabia, Scotland, Singapore, South Africa, Taiwan ROC *Excludes Canada 2005

  24. Introduction to • Availability of Genetic Testing • Future Directions

  25. : Future Directions • Seamless network of international databases • Shared disease naming system • Shared terminology for genetic testing methods • Shared data model

  26. : Disease Naming System • Parent-child hierarchy • Parent can be the name related to an altered • gene or a phenotype • Children can be the name related to an altered gene or a phenotype, but all must be the same • Clinical testing links to a name related to an • altered gene

  27. : Disease Naming System Altered gene: Familial Adenomatous Polyposis Attenuated FAP Gardner Syndrome Turcot Syndrome Phenotypes Phenotype: Altered gene: Altered gene: Jervell and Lange-Nielsen Syndrome LQT1 LQT5

  28. Shared terminology for genetic testing methods mutation scanning

  29. : Shared data model Next steps?

  30. Staff Principal Investigator Roberta A Pagon, MD Directories GeneReviews Genetic Counselors Directory Support Cynthia R Dolan, MS Shannon DeVange, MS Gina McCullough Grohs Editor-in-Chief Executive Managing Editor Associate Editors Assistant Editor Resources Liaison Graphics Editor Update Coordinator Editorial Assistants Roberta A Pagon, MD Patricia K Baskin, MS Thomas D Bird, MD Cynthia Dolan, MS Gerald Feldman, MD, PhD Richard JH Smith, MD, PhD Suzanne Cassidy, MD Kathi Marymee, MS Cynthia Abair, MA Monica Smersh Carla Gifford Malissa Robertson Informatics Sergey Mikhaylov, MS Brad Willson Miriam Espeseth, MA Programmer Systems Administration Web Information Specialist 2005

More Related