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Family History, Genetic, and Genomic Resources
Why is Family History Important? Family history is a powerful tool that can focus your personal health promotion and disease prevention efforts 
No Matter the Setting, the Most Important Tool for risk assessment is the family history  
Standard Pedigree Nomenclature
The Family Tree 2 2 2 2 Maternal grandmother Maternal grandfather Paternal grandmother Paternal grandfather 1 1 2 2 Father Aunt Mother Uncle Patient (proband) is indicated by an arrow 1 = First degree relatives share ½ of their genes with the proband 2= Second degree relatives share ¼ of their genes with the proband 1 1 Brother Sister 1 Child
How to Take a Family History ,[object Object]
Ask about major medical problems such as cancer, heart disease, and diabetes, birth defects (i.e. spina bifida, cleft lip), learning problems and mental retardation, and vision loss/hearing loss at a young age.
Determine the age at which the individual was diagnosed.
For all deceased family members, be sure to include the age at which the individual died, as well as the cause of death.
 Determine the individual’s ethnicity, as many genetic disorders vary in frequency among different ethnic groups. ,[object Object]
With the passage of time, additional diagnoses may have been made
Many patients do not know the details of their family history.
Historical information needs to be verified with records in order to accurately assess risk.,[object Object]
Surgeon General Family History Tool ,[object Object]
Free, online, pedigree can be saved and updated
Allows the user to construct their pedigree at home, where he/she can consult with other family members to insure the maximal level of accuracy of the information, then bring it or send as an electronic file to the physician’s office,[object Object],[object Object]
Family HealthLinkA free tool for your patients to use online ,[object Object]
Provides cancer and coronary heart disease risk assessment  based on family history
High, moderate, low risk categories
Allows the user to print and save PDF file to home computers, share with their healthcare team ,[object Object]
If any of the following apply, refer for genetic consultation ,[object Object]
A person having two or more close relatives on the same side of the family with the same or related condition (e.g. breast cancer, heart disease, Parkinson disease).
A person having a disease at an earlier than expected age (e.g. colon cancer before age 50; cardiovascular disease in a male prior to age 55 years, in a female prior to age 65 years)
A person with more than one primary disease, or exceptional presentation of common conditions (e.g. breast and ovarian cancer in the same person)
Abnormal or unusual test results for which you have no explanation
Two or more unexplained pregnancy losses (miscarriages).
A woman who is pregnant or plans to become pregnant at or after age 35.
A person who is very anxious about their disease risk,[object Object]
Understand an individual’s risk of developing a specific disease

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Genetic Resources

  • 1. Family History, Genetic, and Genomic Resources
  • 2. Why is Family History Important? Family history is a powerful tool that can focus your personal health promotion and disease prevention efforts 
  • 3. No Matter the Setting, the Most Important Tool for risk assessment is the family history  
  • 5. The Family Tree 2 2 2 2 Maternal grandmother Maternal grandfather Paternal grandmother Paternal grandfather 1 1 2 2 Father Aunt Mother Uncle Patient (proband) is indicated by an arrow 1 = First degree relatives share ½ of their genes with the proband 2= Second degree relatives share ¼ of their genes with the proband 1 1 Brother Sister 1 Child
  • 6.
  • 7. Ask about major medical problems such as cancer, heart disease, and diabetes, birth defects (i.e. spina bifida, cleft lip), learning problems and mental retardation, and vision loss/hearing loss at a young age.
  • 8. Determine the age at which the individual was diagnosed.
  • 9. For all deceased family members, be sure to include the age at which the individual died, as well as the cause of death.
  • 10.
  • 11. With the passage of time, additional diagnoses may have been made
  • 12. Many patients do not know the details of their family history.
  • 13.
  • 14.
  • 15. Free, online, pedigree can be saved and updated
  • 16.
  • 17.
  • 18. Provides cancer and coronary heart disease risk assessment based on family history
  • 19. High, moderate, low risk categories
  • 20.
  • 21.
  • 22. A person having two or more close relatives on the same side of the family with the same or related condition (e.g. breast cancer, heart disease, Parkinson disease).
  • 23. A person having a disease at an earlier than expected age (e.g. colon cancer before age 50; cardiovascular disease in a male prior to age 55 years, in a female prior to age 65 years)
  • 24. A person with more than one primary disease, or exceptional presentation of common conditions (e.g. breast and ovarian cancer in the same person)
  • 25. Abnormal or unusual test results for which you have no explanation
  • 26. Two or more unexplained pregnancy losses (miscarriages).
  • 27. A woman who is pregnant or plans to become pregnant at or after age 35.
  • 28.
  • 29. Understand an individual’s risk of developing a specific disease
  • 30. Understand the options for dealing with an increased risk
  • 31.
  • 32. OSU CPHC To speak with or refer a patient to the OSU Center for Personalized Health Care genomics concept clinic, click here
  • 33. How to find a genetic counselor in your area National Society of Genetic Counselors offers a searchable directory of genetic counselors (http://www.nsgc.org/resourcelink.cfm). One can search by city, name, area of practice and zip code.
  • 34. Gene Tests Publicly funded medical genetics information resource developed for physicians, other healthcare providersGeneReviews Expert-authored peer-reviewed disease descriptionsLaboratory Directory International directory of genetic testing laboratoriesClinic Directory International directory of genetics and prenatal diagnosis clinicsEducational Materials Illustrated glossary, information on genetic services, PowerPoint® presentations, annotated Internet resources
  • 35. CDC's Evaluations of Genomic Applications in Practice and Prevention EGAPP To keep abreast of the current trends in the translation from basic research discoveries to clinical practice http://www.egappreviews.org/ EGAPP project's mission is to review the literature and clinical trial results, and assess how ready any given effort is to be translated into routine clinical practice or public health policy. This website provides a summary of the current opinion that often shapes the FDA's decisions to approve products and services for use in the clinic, and often allows one to assess the current state of a specific effort and anticipate developments that will arise in the near future.
  • 36. National Coalition for Health Professional Education in Genetics (NCHPEG) http://www.nchpeg.org/ Continuing education materials on genetics and health developed in association with the American Academy of Family Physicians
  • 37. AMA and the FDA online CME course Pharmacogenomics and Personalized Medicine AMA website (http://www.ama-assn.org/ama/home/index.shtml)
  • 38.
  • 39.
  • 40. PharmGedEd module II:  Clinical Applications of Pharmacogenomics http://www.scivee.tv/node/14506
  • 41. NCCN (National Comprehensive Cancer Network) Contains guidelines for management of increased cancer risk. http://www.nccn.org/index.asp
  • 42. Genomes Unzipped (http://www.genomesunzipped.org/). resource for the non-expert on various topics related to  personal genomics
  • 43. Application for “TimeTree” of Life (http://scienceblog.com/38798/new-app-for-genes-on-earth-is-tool-for-scientists-and-entertaining-for-all-2/). Tool to track common ancestry of organisms