# Presentation: 873613

## Gathering evidence for clinical decision support:Family HealthwareTM

**Rodolfo Valdez, PhD, MSc**
**National Office of Public Health Genomics**

## “The findings and conclusions in this presentation are those of the author and do not necessarily represent the views of CDC.”

## Definition of screening

**NSC – Second Report (2000)**
**Screening is a public health service in which members of a defined population, who do not necessarily perceive that they are at risk of, or are already affected by, a disease or its complications, are asked a question or offered a test to identify those individuals who are more likely to be helped than harmed by further tests or treatment to reduce the risk of disease or its complications**

**European Observatory on Health Systems and Policies **

## Criteria for screening

| Condition
The condition sought should be an important health problem whose natural history, including development from latent to declared disease, is adequately understood. The condition should have a recognizable latent or early symptomatic stage |
| --- |
| Diagnosis
There should be a suitable diagnostic test that is available, safe and acceptable to the population concerned. There should be an agreed policy, based on respectable test findings and national standards, as to whom to regard as patients, and the whole process should be a continuing on |
| Treatment
There should be an accepted and established treatment or intervention for individuals identified as having the disease or pre-disease condition and facilities for treatment should be available. |
| Cost
The cost of case-finding (including diagnosis and treatment) should be economically balanced in relation to possible expenditure on medical care as a whole.  |

**European Observatory on Health Systems and Policies **

## Criteria for evaluating screening

*** *****Simplicity:***** *****The test should be simple to perform, easy to interpret and, where possible, capable of use by paramedics and other personnel**
*** *****Acceptability:***** *****Since participation in screening is voluntary, the test must be acceptable to those undergoing it**
*** *****Accuracy:***** *****The test must give a true measurement of the condition or symptom under investigation**
*** *****Cost:***** *****The expense of the test must be considered in relation to the benefits of early detection of the disease**
*** *****Repeatability:***** *****The test should give consistent results in repeated trials**
*** *****Sensitivity:***** *****The test should be capable of giving a positive finding when the individual being screened has the condition being sought**
*** *****Specificity:***** *****The test should be capable of giving a negative finding when the individual being screened does not have the condition being sought.**

**European Observatory on Health Systems and Policies **

## Disadvantages of screening

** ****	****Longer morbidity in cases where prognosis is ****	****unaltered**
** ****	****Over-treatment of questionable abnormalities**
** ****	****Costs > benefits**
** ****	****False reassurance for those with false negative ****	****test results**
** ****	****Anxiety and sometimes morbidity for those with ****	****false-positive results**
** ****	****Hazard of screening test itself**

**European Observatory on Health Systems and Policies **

## Family history as a prevention strategy

**Family history as a prevention strategy**

**Screening**
**Family history can identify individuals and families at increased risk for chronic diseases**** **
**	****Intervention**
**Knowledge of family history can guide risk-specific interventions for prevention and early detection**

## 	Family history is a risk factor for common diseases

**Am J Prev Med 2003; 24(2): 128-207**

## Cumulative number of cases of breast cancer by age at diagnosis in first-degree relatives of probands diagnosed with breast cancer before the age of 50 years (females, Danish Cancer Registry)

**Rawal R et al. Eur J Cancer 2006; 42: 3034-40**

## Family history is underutilized in preventive medicine 

**Lack of time during visit**** **
**Need for data collection and decision support systems**** **
**Reimbursement policies are unclear**
**	****	**
**Limited knowledge and skill for taking and interpreting family histories and counseling patients at increased risk**

**Family history is underutilized in ****preventive medicine***** ***

## CDC Family History Public Health Initiative

**Evaluate the use of family history for assessing risk of  common diseases and influencing early detection and prevention strategies**

**Validity**** - Could disease information about a person’s close relatives be used to predict his or her own risk for specific diseases? **

**Utility**** - Would individuals who may be at above average risk benefit from targeted interventions beyond what is recommended for the population at large ? **

## Development of the Family History Public Health Initiative 

**Can family history be used as a tool for public health and preventive medicine?**
***	*****Genet Med 2002; 4(4):304-310**** **
**Panel of experts – May 2002 - 10 articles**
**	****Am J Prev Med 2003; 24(2):128-207**
**Family history work group**** **
**Development of research agenda and criteria for a new family history ****tool ****	**

**Development of the Family History Public Health Initiative **

## Main objectives of theFamily History Public Health Initiative

**	**
**Conduct research to define, measure, and assess family history in individuals and populations**
**Develop tools to collect family history, assess familial risk, and to guide prevention efforts**
**Evaluate whether public health strategies based on family history work**
**Promote family history awareness to the public and health professionals**

## Criteria to assess the benefits and risks of family history as a genomic tool

**Analytical validity:**** how well a family history tool captures the distribution of a disease among relatives **
**Clinical validity:**** how accurately a family history tool determines the risk for a disease**
**	****(sensitivity, specificity, predictive value)**
**Clinical utility:**** to what extent the results of the family history tool benefit the individual, the family, and society**
**Social issues:**** possibility of stigmatization and discrimination as a result of having a discernible familial risk for a disease**

## Criteria for selecting diseases for a family history tool

**Substantial public health burden**
**Well-established case definition**
**Family history has been found to be a risk factor**
**Relatives likely to be aware of the familial nature of the disease **
**Diagnosis accurately reported by relatives**
**Population prevalence of family history as a risk factor can be estimated**
**Effective interventions exist for primary and secondary prevention **
**It is possible to issue recommendations according to familial risk**

## Desirable features of a public health tool to collect family history and influence prevention  

**Self-administered**
**Easily applied and adaptable to different settings**
**Simple but collects enough information to assess risk**
**Tied to algorithms that interpret risk**
**Useful in combination with other risk factors **
**Tied to risk-appropriate and evidence-based prevention strategies **
**Integrated approach to disease prevention **

## Current challenges to the implementation of family history tools

**No standard definition of family history**
**Most data collected are ‘casual’ data (i.e., no formal pedigrees)**
**Most relative risks found are small**
**Estimation of familial risk could be complex, depending on**
**degree of genetic relationship**
**number of affected members in the family**
**prevalence of the disease in the population**

## Slide 18

## Slide 19

## Slide 20

## Family HealthwareTM

**	****	****A self-administered, web-based tool that ****	****assess familial risk for**
**	****Coronary heart disease**
**	****Stroke**
**	****Diabetes**
**	****Cancer **
**	****colorectal, breast, ovarian**
**  ****and provides a "prevention plan" with personalized recommendations for lifestyle changes and screening**

## Family HealthwareTM data collection

**Health behaviors**
**e.g., smoking, exercise**
**Screening tests**
**e.g., blood cholesterol, mammography**
**Disease history**
**e.g., disease present in first, second-degree relatives**

## Family HealthwareTM algorithms

**First:**** to assess familial risk for each disease**
**Second:**** to generate personalized prevention messages that promote**
** ****lifestyle changes**
** ****screening acceptance**

## Yoon PW et al. Am J Prev Med 2003; 24: 128-137

| Risk classification and interventions |  |  |  |
| --- | --- | --- | --- |
|  |  | High | Referral for genetic evaluation and personalized prevention recommendations |
| Risk assessment with Family
HealthwareTM
 |  |  |  |
|  |  |  |  |
|  |  | Moderate | Personalized prevention recommendations |
|  |  |  |  |
|  |  |  |  |
|  |  | Average | Standard public health recommendations |
|  |  |  |  |

**Yoon PW et al. Am J Prev Med 2003; 24: 128-137**

## CHD

- Stroke
- Diabetes
- Breast cancer
- Ovarian cancer
- Colorectal cancer

## Slide 26

## Tobacco

- Physical activity
- Fruits/vegetables
- Alcohol
- Aspirin

## Slide 28

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## Purpose – to assess the impact of personalized prevention messages on behavior and screening acceptance among primary care patients

**Study Population ~ 4,000 participants aged 35-65 yrs**

|              Study design |  |  |
| --- | --- | --- |
|  | Baseline | Follow-up (6 mo) |
| Group 1 | Pre Test + FHx tool (personal messages) | Post Test |
| Group 2 | Pre Test 
(standard messages) | Post Test + FHx tool |

## Papers in preparation

**Family Healthware****TM****: A family history screening tool for the prevention of common chronic diseases**
**The Family Healthware****TM**** Impact Trial (FHITr), a group-randomized clinical trial in primary care practices: methodology**
**Family history and perceptions about risk and prevention for chronic diseases in primary care.  A report from the Family Healthware****TM**** Impact Trial (FHITr)**
**Comparison of risk perceptions and beliefs across common chronic diseases and health behaviors**
**Specific components of familial risk are associated with risk perception, cancer screening and health behaviors**
**Patterns of intra-class correlations for patients’ health risk perceptions, health behaviors, family and physician communication and screening outcomes for six diseases: Findings from the Family Healthware Impact Trial (FHITr)**

## Stay tuned!