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
The family medical history should consist at a minimum of first-degree relatives (parents, children, and siblings) and second-degree relatives (grandparents, aunts, uncles, cousins, nieces and nephews).
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.
Family histories are dynamic, diagnoses require verification
Update the family history annually
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.
Family histories are dynamicand need verification Initial History 2 years later Breast Ca, 59 Breast ca, 59 Ovarian Ca, 49 Low Risk High Risk
My Family Health Portrait (https://familyhistory.hhs.gov/
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
My Family Health Portrait
A report is generated that includes a pedigree drawing, and a listing of the family history data entered
Family HealthLinkhttps://familyhealthlink.osumc.edu If assessment is “high risk” genetic counseling and possibly testing warranted
Family HealthLinkA free tool for your patients to use online
Provides cancer and coronary heart disease risk assessment based on family history
Allows the user to print and save PDF file to home computers, share with their healthcare team
Using Family History for Disease Prevention Classification Intervention Assessment Standard prevention recommendations Average Family History Tool Personalized prevention recommendations Moderate Referral for genetic evaluation and personalized prevention recommendations High Paula W. Yoon, ScD, MPH Office of Genomics & Disease Prevention, CDC
If any of the following apply, refer for genetic consultation
A personal or family history of a single gene disorder, biochemical abnormality, birth defect, mental retardation, or chromosomal disorder.
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
Appreciate the way heredity contributes to disease risk, and health
Understand an individual’s risk of developing a specific disease
Understand the options for dealing with an increased risk
Choose a course of action for managing risk that seems personally appropriate (genetic testing, screening or long-term follow up)
Genetic Counseling:What happens Collection of personal and family history (3 generation pedigree) Education and risk assessment Options for genetic testing and medical management Discussion of risks, benefits and limitations Screening and Prevention Strategies Follow-up Provide psychosocial support Family members
OSU CPHC To speak with or refer a patient to the OSU Center for Personalized Health Care genomics concept clinic, click here
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.
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
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.
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
AMA and the FDA online CME course Pharmacogenomics and Personalized Medicine AMA website (http://www.ama-assn.org/ama/home/index.shtml)
AHRQ's Centers for Education and Research on Therapeutics (CERTs) provide information intended to educate the physician on the use of therapeutic drugs, including new developments in pharmacogenomics (http://www.ahrq.gov/clinic/outcomix.htm#CERTs).
The NCBI database of SNPs.
Good for finding SNP locations, basic info and frequencies in various populations. http://www.ncbi.nlm.nih.gov/projects/SNP/
SNPedia User-curated database of SNPs and their associations Useful starting place to look up a disease and related SNPs or vice versa http://www.snpedia.com
PharmGedEd module II: Clinical Applications of Pharmacogenomics http://www.scivee.tv/node/14506
NCCN (National Comprehensive Cancer Network) Contains guidelines for management of increased cancer risk. http://www.nccn.org/index.asp
Genomes Unzipped (http://www.genomesunzipped.org/). resource for the non-expert on various topics related to personal genomics
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