1. Copyright OpenHelix. No use or reproduction without express written consent1

2. GeneTests Medical Genetics Information Resource Materials prepared by: Cynthia Perreault-Micale, Ph.D. Dorothy S. Reilly, Ph.D. www.openhelix.com Updated: Q1 2011 Version 3.0

3. Copyright OpenHelix. No use or reproduction without express written consent3 GeneTests Agenda Introduction & Credits GeneReviews Laboratory Directory Clinic Directory Educational Materials Summary Exercises GeneTests: http://www.ncbi.nlm.nih.gov/sites/GeneTests

4. Copyright OpenHelix. No use or reproduction without express written consent4 Introduction to GeneTests - The Homepage Main Components http://www.ncbi.nlm.nih.gov/sites/GeneTests

5. Copyright OpenHelix. No use or reproduction without express written consent5 The Major Resources Within GeneTests

6. Copyright OpenHelix. No use or reproduction without express written consent6 Each Offers Searching & Browsing Options

7. Copyright OpenHelix. No use or reproduction without express written consent7 Navigation Between Resources is Easy

8. Copyright OpenHelix. No use or reproduction without express written consent8 Additional Homepage Features From the GeneTests Educational Materials link: What is a Clinical Test? Clinical tests are those in which specimens are examined and results reported to the provider or patient for the purpose of diagnosis, prevention or treatment in the care of individual patients. Note * United States laboratories performing clinical tests must be CLIA approved. What is a Research Test? Research tests are those in which specimens are examined for the purpose of understanding a condition better, or developing a clinical test.

9. Copyright OpenHelix. No use or reproduction without express written consent9 GeneTests Disclaimer “GeneTests is a supplement to and not a substitute for medical advice. Patients with specific questions about genetic counseling or testing should contact their healthcare provider or a genetics clinic.” “Intended Audience: GeneTests is focused on the information needs of genetics professionals and assumes familiarity with the genetic mechanisms of disease causation and genetic counseling principles. Other healthcare providers using GeneTests are encouraged to consult a genetics clinic with their questions about the application of genetic testing to the diagnosis, management, and genetic counseling of their patients (use the Clinic Directory to locate a genetics clinic). Consumers are encouraged to speak with a healthcare provider or a genetics clinic for questions regarding availability and appropriateness of genetic testing.” This tutorial is not a substitute for medical training, it is to help users improve their database searches and become familiar with GeneTests’ resources.

10. Copyright OpenHelix. No use or reproduction without express written consent10 More About GeneTests

11. Copyright OpenHelix. No use or reproduction without express written consent11 Credits J Med Libr Assoc. 2006 July; 94(3): 343–348 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1525324/ Scroll to Directories, Web Site & Advisory Board personnel

12. Copyright OpenHelix. No use or reproduction without express written consent12 GeneTests Agenda Introduction & Credits GeneReviews Laboratory Directory Clinic Directory Educational Materials Summary Exercises GeneTests: http://www.ncbi.nlm.nih.gov/sites/GeneTests

13. Copyright OpenHelix. No use or reproduction without express written consent13 GeneReviews - Basic Searching & Browsing Search Options Browsing Options

14. Copyright OpenHelix. No use or reproduction without express written consent14 GeneReviews: Search Options congenital adrenal hyperplasia Help Search by Disease, Gene Symbol, Protein Name or Author Last Name All dropdown menus: “begins with”, “contains”, or “exact match” Our example: search by disease for congenital adrenal hyperplasia

15. Copyright OpenHelix. No use or reproduction without express written consent15 Disease Search Results Help with search results

16. Copyright OpenHelix. No use or reproduction without express written consent16 Interpreting Search Results

17. Copyright OpenHelix. No use or reproduction without express written consent17 Disease Phenotype & Genotype Relationships Possible search results: one disease phenotype mutations in one gene example: Huntington Disease HTT gene mutation one disease phenotype mutations in different genes example: Noonan Syndrome mutations in either PTPN11, KRAS, SOS1, or RAF1 different disease phenotypes mutations in one gene example: cystic fibrosis and congenital bilateral absence of the vas deferens both caused by mutations in CFTR gene disease phenotype no molecular genetic testing available example: bipolar disorder has a “familial” component but no known gene mutation

18. Copyright OpenHelix. No use or reproduction without express written consent18 Accessing GeneReviews click Click on Reviews to select a GeneReview to examine Our Example: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

19. Copyright OpenHelix. No use or reproduction without express written consent19 What’s in a GeneReview? Full GeneReview Published as an NCBI Bookshelf book Navigation & Links To more info Navigate

20. Copyright OpenHelix. No use or reproduction without express written consent20 Table of Contents - Overview Clinical Description: natural history, genotype-phenotype correlations, nomenclature, prevalence Differential Diagnosis: disease characteristics, other diseases with similar symptoms Molecular Genetics: genes involved, allelic variants, normal and abnormal gene products Resources: national organizations, websites Management: Evaluation and treatment of disease manifestations and complications Genetic Counseling : mode of inheritance, risk to family members, other counseling issues References: literature cited Summary: disease characteristics, diagnosis/testing, management, genetic counseling Diagnosis: clinical diagnosis, carriers, newborn screening, molecular genetic testing, interpretation of testing

21. Copyright OpenHelix. No use or reproduction without express written consent21 Right Side Navigation & Links Consumer Resources Table of Contents All links from this record Related citations In PubMed Recent activity GeneReviews Links Related to this GeneReview

22. Copyright OpenHelix. No use or reproduction without express written consent22 GeneReview 21-OHD Summary Use your Browser’s Find function

23. Copyright OpenHelix. No use or reproduction without express written consent23 GeneReview 21-OHD Diagnosis Diagnosis: Clinical Diagnosis, Testing, Carriers & Newborn Screening Molecular Genetic Testing: genes associated with disease, genetics testing available Interpretation of test results

24. Copyright OpenHelix. No use or reproduction without express written consent24 GeneReview 21-OHD Clinical Issues Clinical Description Differential Diagnosis Management

25. Copyright OpenHelix. No use or reproduction without express written consent25 GeneReview 21-OHD Genetic Counseling Autosomal recessive Discussions of risks, carrier detection Prenatal diagnosis & treatment

26. Copyright OpenHelix. No use or reproduction without express written consent26 GeneReview Molecular Genetics Allelic variants, normal & abnormal gene products Link to Entrez Gene, Map Viewer, UniProt, HGMD & more

27. Copyright OpenHelix. No use or reproduction without express written consent27 GeneReview More Info Resources Chapter Notes References

28. Copyright OpenHelix. No use or reproduction without express written consent28 GeneTests Agenda Introduction & Credits GeneReviews Laboratory Directory Clinic Directory Educational Materials Summary Exercises GeneTests: http://www.ncbi.nlm.nih.gov/sites/GeneTests

29. Copyright OpenHelix. No use or reproduction without express written consent29 Search Options Browsing Options Voluntary listing of labs providing testing Specify location Access the Laboratory Directory search results by selecting: Laboratory Directory - Basic Searching & Browsing

30. Copyright OpenHelix. No use or reproduction without express written consent30 Laboratory Directory: Search Options & Example Help Click for non-disease testing CYP21A2 Limit search by location

31. Copyright OpenHelix. No use or reproduction without express written consent31 Laboratory Directory Search Results Searches by gene symbol retrieve a list of diseases associated with changes in that gene Click on the “Testing” link to go to the Laboratory Directory listings

32. Copyright OpenHelix. No use or reproduction without express written consent32 Laboratory Directory Display Clinical laboratories offering testing Glossary links & contact information

33. Copyright OpenHelix. No use or reproduction without express written consent33 Laboratory Directory: Glossary Links glossary links Click on underlined terms

34. Copyright OpenHelix. No use or reproduction without express written consent34 Laboratory Directory: Contact Laboratory Links to explore Expand section View list Click for research testing

35. Copyright OpenHelix. No use or reproduction without express written consent35 Research Testing You can also access the research testing from search results by selecting: View list Expand section

36. Copyright OpenHelix. No use or reproduction without express written consent36 GeneTests Agenda Introduction & Credits GeneReviews Laboratory Directory Clinic Directory Educational Materials Summary Exercises GeneTests: http://www.ncbi.nlm.nih.gov/sites/GeneTests

37. Copyright OpenHelix. No use or reproduction without express written consent37 Clinic Directory - Basic Searching & Browsing Search Options Voluntary listing of genetics clinics providing genetic evaluation & counseling Search by location, service, clinic name, or a combination Browse

38. Copyright OpenHelix. No use or reproduction without express written consent38 Clinic Directory: Search Options help Search help on top and right side First, let’s look at the Google Map option Click on Go to access Search Options Searching help

39. Copyright OpenHelix. No use or reproduction without express written consent39 Clinic Directory: Google Map Search Search by City & State, State Only, Zip Code Limit search by Service Balloons indicate number of clinics MA

40. Copyright OpenHelix. No use or reproduction without express written consent40 Clinic Directory: Basic Search Options Select location or service, and click Go to retrieve a list of all available clinics Search Options Searching help

41. Copyright OpenHelix. No use or reproduction without express written consent41 Click to view clinic details Clinic Directory: Basic Search Results

42. Copyright OpenHelix. No use or reproduction without express written consent42 Clinic Directory: Advanced Search Options Search by Location, Service, Clinic Name, or a combination Example: Prenatal Diagnosis clinics in Michigan, affiliated with Henry Ford Health System Search Options Searching help Henry Ford

43. Copyright OpenHelix. No use or reproduction without express written consent43 Clinic Directory: Advanced Search Results View details of all clinics

44. Copyright OpenHelix. No use or reproduction without express written consent44 GeneTests Agenda Introduction & Credits GeneReviews Laboratory Directory Clinic Directory Educational Materials Summary Exercises GeneTests: http://www.ncbi.nlm.nih.gov/sites/GeneTests

45. Copyright OpenHelix. No use or reproduction without express written consent45 Educational Materials - Illustrated Glossary Options to search & browse Contents Illustrated Glossary Browse Search

46. Copyright OpenHelix. No use or reproduction without express written consent46 Educational Materials - Glossary Example

47. Copyright OpenHelix. No use or reproduction without express written consent47 Educational Materials - Genetic Services Browse Genetic Services Scroll to

48. Copyright OpenHelix. No use or reproduction without express written consent48 Educational Materials - Presentations & Resources Click here

49. Copyright OpenHelix. No use or reproduction without express written consent49 GeneTests Agenda Introduction & Credits GeneReviews Laboratory Directory Clinic Directory Educational Materials Summary Exercises GeneTests: http://www.ncbi.nlm.nih.gov/sites/GeneTests

50. Copyright OpenHelix. No use or reproduction without express written consent50 GeneTests Summary http://www.ncbi.nlm.nih.gov/sites/GeneTests

51. Copyright OpenHelix. No use or reproduction without express written consent51 Easy Navigation Between Resources Help is always available

52. Copyright OpenHelix. No use or reproduction without express written consent52 GeneTests Agenda Introduction & Credits GeneReviews Laboratory Directory Clinic Directory Educational Materials Summary Exercises GeneTests: http://www.ncbi.nlm.nih.gov/sites/GeneTests

53. Copyright OpenHelix. No use or reproduction without express written consent53