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

22 22

1 1 2

1

2

1

1

Child

BrotherSister

Father Mother Uncle

Maternal grandmoth

er

Maternal grandfather

Paternal grandmoth

er

Paternal grandfather

Aunt

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

How to Take a Family History• 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

Surgeon General Family History Tool

• 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

• https://familyhealthlink.osumc.edu• 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

Family History

Tool

Average

Moderate

High

Standard prevention recommendations

Personalized prevention recommendations

Referral for genetic evaluation and personalized prevention recommendations

Classification InterventionAssessment

Using Family History for Disease Prevention

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

Genetic Counseling:Purpose

• 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 assessmentOptions for genetic testing and medical managementDiscussion of risks, benefits and limitationsScreening and Prevention StrategiesFollow-upProvide 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 providers

GeneReviews • Expert-authored peer-reviewed disease descriptions

Laboratory Directory• International directory of genetic testing laboratories

Clinic Directory• International directory of genetics and prenatal diagnosis clinics

Educational 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)

CERTs• 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).

dbSNP

• 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