B R U C E K . L I N , M P H
B E C O M I N G A M O M / C O M E N Z A N D O B I E N T R A I N I N G
J A N U A R Y 1 4 , 2 0 1 3 3 4 5 P M
Understanding the Importance
of Your Family Health History
Disclosures
Currently consulting with HughesRiskApps
Objectives
Explain the key components of family health history
Describe the importance of family health history to quality preconception/prenatal care
barriers to obtaining needed information in clinical settings
“Red flags”
Risk assessment and management guidelines
Describe strategies for timely collection of necessary information for clinical care
FmHx collection tools
Discuss strategies to test the usability/ impact of new
approaches
What is a Family Health History?
…a written or graphic
record of the diseases and
health conditions present
in a family.
Family History
Help diagnose
Build rapport with patients How to treat
patient
Value of Family Health History
Promote risk
assessment
Parts of a Family Health History
Different ways to organize and display (e.g. pedigree)
Critical elements
Easily updated and accurate
Allow detection and interpretation of patterns
Promote communication
Three generations
Proband and historian
First, second and sometimes third degree relatives, & bloodline
Affected and unaffected relatives
Source: National Coalition Health Professional Education in Genetics
Recording a Family Health History
Me
Sister BrotherMom
Dad Maternal
Uncle Maternal
Aunt Maternal
Grandmother Maternal
Grandfather
Paternal Uncle
Paternal Cousin
Paternal Grandfather
Paternal Grandmother
My generation Parents’
generation Grandparents’
generation
Red Flags
1. Family history of known or suspected genetic condition
2. Multiple affected family members with same or related disorders
3. Earlier age at onset of disease than expected 4. Developmental delays or mental retardation 5. Diagnosis in less-often-affected sex
6. Multifocal or bilateral occurrence in paired organs
Red Flags
7. One or more major malformations
8. Disease in the absence of risk factors or after preventive measures
9. Abnormalities in growth (growth retardation, asymmetric growth, excessive growth
10. Recurrent pregnancy losses (2+)
11. Consanguinity (blood relationship of parents)
12. Ethnic predisposition to certain genetic disorders
Red Flags
Cystic Fibrosis
European Ashkenazi Jewish
Sickle Cell Disease
African Asian Indian Middle East Mediterranean
Beta-
thalassemia
Mediterranean Asian Middle Eastern Hispanic Caribbean
Tay-Sachs disease
Ashkenazi Jewish French Canadian Cajun Pennsylvania Dutch
Alpha- thalassemia
SE Asian African Caribbean
Canavan disease Familial
Dysautonomia Mucolipidosis IV Niemann-Pick disease Type A Fanconi anemia group C
Bloom Syndrome Gaucher disease
Ashkenazi Jewish
Risk Assessment & Management Guidelines
During Prenatal or Preconception Period
Thinking About Your Own Family Health
History
Risk Assessment & Management Guidelines
During Prenatal or Preconception Period
Risk Assessment & Management Guidelines During Prenatal or Preconception Period
Source: Jack BD et. al. 2008 The clinical content of
preconception care: an overview and preparation of this
supplement. AJOG; S266
Preterm Birth and Family Health History
Preterm birth a common, complex problem
Preterm birth runs in families
•
Women born preterm are more likely to deliver preterm
• About 20% of women who deliver preterm
subsequently have another preterm birth (with the same partner)
Can family health history be used as screening tool for health promotion and prevention?
Sources: Chapter 5: Medical and Pregnancy Conditions Associated with Preterm Birth. In Preterm Birth: Causes Consequences and Prevention. 2007 National
Academy Press; Crider KS et. al. Genetic variation associated with preterm birth: A
HuGE review. 2005 Gen Med: 7; pp583-604
Resources
Online sites for consumers
March of Dimes www.marchofdimes.com
Genetic Alliance www.geneticalliance.org
Centers for Di
U.S. Surgeon General
http://www.hhs.gov/familyhistory/
Finding a genetic counselor
National Society of Genetic Counselor www.nsgc.org
Family History Collection Tools
Family History Collection Tools
• Who: Provider
elicited vs patient- entered information
• Format: Paper
based vs electronic
• When: Prior to the visit vs in the clinic
Graphic sources: Doctor and patient, TheNounProject
Paper forms
Age Vital Status Cancer status Age diagnosis Ethnicity/Religion
Genetic testing
Does this patient need genetic testing?
FirstPAGE: Prenatal Assessment Genetic
Evaluation
Electronic Health Records
What are EHRs?
EHRs is not the same as health information
technology
EPIC- IN dummy 8/30/12
GE Centricity- IN 9/19/11
What problem list looks like
Specialty EHR: Mid sized company
EHR≠Health Information Technology: Gaps in family history in the EHR
Structured data
Core data set for family history
Genetic test results
Interoperability
Patient data entry (changing)
Usability
Clinical Decision Support (CDS)
Risk Algorithms/Guidelines
Pedigree drawing
Latest classification of variants
Documentation
Slide courtesy of Kevin Hughes, MD
Helping busy doctors and nurses: Clinical Decision Support
“Clinical decision support (CDS) systems provide clinicians, staff, patients, and other individuals with knowledge and person-specific information,
intelligently filtered and presented at appropriate times, to enhance health and health care.”
Source: Berner ES. Clinical decision support systems: State of the Art. AHRQ Publication No. 09-0069-EF. Rockville, Maryland: Agency for Healthcare Research and Quality.
June 2009.
EHR: Paper + extra work + memory
Patient completes paper
form
Reviews data using memory Staff enters
data into the
EHR Genetic
Consultation
Slide courtesy of Kevin Hughes, MD
Value Proposition: Less work + CDS=Higher Quality
Patient enters data into Tablet PC
Reviews Report &
Pedigree
Reviews suggested management
Patient and professional educational materials
Clinical Decision Support
Genetic
Consultation
Slide courtesy of Kevin Hughes, MD
Quality Improvement
Consistently providing the best care to all patients
Process vs Performance measures
Outcomes?
usability, acceptability, satisfaction
Knowledge, confidence
