# Presentation: 205716

## Family History and Genetic Tests in Electronic Health Records

**AHIC Personalized Healthcare Workgroup Meeting**
**March 12, 2007**
**Maren T. Scheuner, MD, MPH**
**scheuner@rand.org**

## Outline

**Why family history in the era of genomics?**
**Familial risk assessment and the role of electronic health records**
**RAND study on genomics and health information technology**

## Why Family History in the Era of Genomics?

**Family history can help identify people at risk for common chronic diseases and can facilitate diagnosis of rare genetic disorders.**
**For rare genetic disorders, family history reflects the genetic risk factor shared by affected family members.  Specific patterns of inheritance are typical.**
**For common chronic diseases, family history reflects the complex interactions of genetic and non-genetic risk factors shared by affected family members.  A specific pattern of inheritance is **_**not**_** typical. **

## Family history screening can assess risk for multiple conditions at low cost.
Most people have easy access to their family history and they believe knowledge of their family history is important to their health.
Most people are aware of many common chronic conditions in their family members, and accuracy of reports in family members is generally high.
Family history serves as a primary indication for predictive genetic testing, and the context of family history is often necessary for interpretation of results. 
Family history can influence disease management and prevention for many common conditions. 

**Most people have easy access to their family history and they believe knowledge of their family history is important to their health.**
**Most people are aware of many common chronic conditions in their family members, and accuracy of reports in family members is generally high.**
**Family history serves as a primary indication for predictive genetic testing, and the context of family history is often necessary for interpretation of results. **
**Family history can influence disease management and prevention for many common conditions. **

***Why Family History in the Era of Genomics?***

## Family History Helps to Diagnose and Changes Screening Guidelines and/or Management for . . .  

**Abdominal aortic aneurysm**
**Breast Cancer**
**Cardiomyopathy**
**Colon Cancer**
**Coronary Artery Disease**
**Developmental Delay**
**Diabetes**
**Dyslipidemia **
**Emphysema**
**Endometrial cancer**
**Gastric cancer**
**Hearing Impairment**
**Heart failure**
**Hip Dysplasia **

**Kidney Cancer **
**Hypertension**
**Iron Def Anemia**
**Liver Cancer**
**Osteoporosis**
**Ovarian cancer**
**Pancreatitis/pancreatic cancer**
**Prostate Cancer**
**Syncope**
**Thromboembolism**
**Thyroid Cancer**
**Thyroid Disease**
**Urticaria**
**Visual Impairment**

- Scheuner MT, Yoon P, Khoury MJ. Contribution of mendelian disorders to common chronic disease: opportunities for recognition, intervention and prevention. Am J Med Genet 2004;125C:50-65.
- Wattendorf JD, Hadley DW. Family history: the three-generation pedigree. Am Fam Physician 2005;72:441-448.

## Data Needed for Familial Risk Assessment

**Not enough to say family history is “positive” or “negative”**
**Ideally collect information regarding:**
**Disease status (can have more than one) in relatives**
**Age at diagnosis or onset**
**Type of relative (e.g., parent, sibling, half-sib, grandparent)**
**Sex of affected relative**
**Lineage of affected relatives (i.e., maternal, paternal, nuclear)**
**Mother and father ID if nieces, nephews and cousins included**
**Ancestry/grandparents’ country of origin**
**Genetic test results **
**Additional information (not critical to initial risk assessment):**
**Current status (e.g., alive, dead, estranged, unknown)**
**Current age or age at death**
**Verification of diagnoses**
**Psychosocial issues**

## Familial Risk Assessment: 

***Importance of Asking the Right Questions***

**Breast ca **
**Dx 70’s**

**Breast ca **
**Dx ?**

**Breast ca **
**Dx 54**

**Breast ca **
**Dx 70’s**

**Breast ca **
**Dx 70’s**

**Breast ca **
**Dx 54**

**Ovarian ca **
**Dx 48**

**Prostate ca **
**Dx 48**

**Breast ca **
**Dx ?**

## Pattern Recognition is Important 

**Thyroid ca **
**Dx 31**

**Breast ca **
**Dx 45**

**Brain ca **
**Dx 41**

**Breast ca **
**Dx 45**

**Sarcoma **
**Dx 10**

**Ovarian ca **
**Dx 51**

**Breast ca **
**Dx 45**

**Breast ca **
**Dx 48**

**Breast ca **
**Dx 48**

**Breast ca **
**Dx 48**

**Breast ca **
**Dx 48**

**Melanoma **
**Dx 51**

**Endometrial ca **
**Dx 51**

***Pattern Recognition is Important ***
***When There is Genetic Heterogeneity***

## Weak familial risk (usually OR < or = 1.0)
No affected relatives.
Only one affected 2nd degree relative from one or both sides of pedigree.
No known family history.
Moderate familial risk (usually OR 1.5 to 2.5)
Only one 1st degree relative with late or unknown disease onset.
Only two 2nd degree relatives from one lineage with late or unknown disease onset.
Strong familial risk (usually OR > or = 2.5) 
Early onset disease in at least one 1st degree relative.
Two or more affected 1st degree relatives with onset at any age.
One 1st degree relative with late/unknown onset disease and one or more 2nd degree relatives from same lineage with early onset.
Two or more 2nd degree relatives from one lineage with at least one having early onset.
Three or more affected relatives from one lineage with onset at any age. 
Patterns suggestive of mendelian disorders.

- No affected relatives.
- Only one affected 2nd degree relative from one or both sides of pedigree.
- No known family history.
**Moderate familial risk (usually OR 1.5 to 2.5)**
- Only one 1st degree relative with late or unknown disease onset.
- Only two 2nd degree relatives from one lineage with late or unknown disease onset.
**Strong familial risk (usually OR > or = 2.5) **
- Early onset disease in at least one 1st degree relative.
- Two or more affected 1st degree relatives with onset at any age.
- One 1st degree relative with late/unknown onset disease and one or more 2nd degree relatives from same lineage with early onset.
- Two or more 2nd degree relatives from one lineage with at least one having early onset.
- Three or more affected relatives from one lineage with onset at any age.
- Patterns suggestive of mendelian disorders.

***General Rules for Familial Risk Assessment****** of Common Chronic Diseases***

- Scheuner, MT, Wang S-J, Raffel LJ, Larabell SK, Rotter JI. The family history: A comprehensive genetic risk assessment method for the chronic conditions of adulthood. Am J Med Genet 1997;71:315-324..

## Familial Risk Assessment:How are Physicians Doing?

**Family history collected at about 50% of new visits and 22% of established visits.**
**Average duration of visit, 10 minutes; average duration of family history discussion, 2.5 minutes.**
**	****	****Acheson et al., 2000**
**Only 29% of PCPs feel prepared to take family history and draw pedigrees. **
**   ****	****	****Suchard et al., 1999**
**Even when collected, physicians often fail to recognize high-risk family histories.**
**	****	****Sweet et al, 2002; Frezzo et al., 2003**

## Overcoming Obstacles to Familial Risk Assessment with Electronic Health Records

**EHRs can help standardize**
**Collection of family history in a structured format**
**Organization of family history in a usable form (e.g., pedigree, graph)**
**Genetic test orders and results**
**EHRs can provide clinical decision support for**
**Familial risk assessment and pattern recognition **
**Referral for genetics consultation and testing**
**Genetic/genomic test result interpretation **
**Evidence-based recommendations for interventions tailored to the familial/genetic risk**

## EHRs Can Facilitate Clinical Integration of Genomic Medicine and Improve Quality of Care by...

**Aiding in diagnosis of rare genetic diseases and assessing susceptibility to common diseases**
**Improving access to appropriate diagnostic and predictive genetic testing**
**Increasing the accuracy and completeness of family history (especially with a PHR) **
**Facilitating discussion about health promotion and disease prevention between patients, their providers and family members **
**Improving disease management and prevention by both the patient (especially with a PHR) and provider**

## Ongoing RAND Study of Genomics and HIT*

_**Aim**_**: To gain an in-depth understanding of the state-of-the-art in EHR products regarding collection and organization of genetic/genomic information, related clinical decision support, and stakeholder needs and interests.**
_**Data collection**_**: **
**Conduct semi-structured interviews with representatives of stakeholder groups (EMR/PHR and CDS vendors; genetics professionals; primary care providers) **
**Review the literature **
**Search the web **
**Attend HIT conferences (HL7, HIMSS, etc.)**
_**Analyses**_**: Qualitative approach. Themes will be identified and views contrasted between stakeholder groups.  **
_**Policy implications**_**: Identify barriers and potential mechanisms to facilitate adoption of genomics through HIT.**

- *This project was initiated in January, 2007. Anticipated completion date, 12/31/07.

## Questions Asked

**Family history:**
**How is family history collected (text, structured)?**
**If structured data collection, what elements are included?**
**How is data entered (health professional, patient portal)?**
**How is data organized (text field, graph, pedigree)?**
**Is there clinical decision support for pedigree analysis and risk assessment?**
**Are genetic test results for family members captured?**
**Is security and access permission different?**
**Genetic test orders and results:**
**Any special way of handling?**
**What coding is used?**
**Is indication for test noted?**
**Is there clinical decision support for test interpretation?**
**Is security and access permission different?**

## More Questions...

**What are the barriers, if any, to including family history and genetic test information in EMRs/PHRs?**
**How has the market reacted to the increasing discussion of genetic/genomic medicine and has this translated to changes in data input or other requirements?**
**What is the impact of HIT on genomic medicine, and how do you see that changing over the next 5 to 10 years?**
**What is the impact of genomic medicine on HIT, and how do you see that changing over the next 5 to 10 years?**

## What We Have Learned So Far About Family History in EMRs/PHRs

**Family history is usually collected in both structured and text formats.  Physicians generally prefer text. **
**Customization of data elements is possible.**
**In off-the-shelf products, structured family history is asked by: **
**Inquiring about a **_***disease***_** followed by the type of affected relatives, or**
**Inquiring about a **_***relative***_** followed by the disease(s) they have.**
**Often a relative can have only one disease and usually age of diagnosis/onset is not included.**
**Types of relatives usually include sibs, parents, children, and grandparents.  Less often aunts/uncles.  Usually maternal or paternal is delineated. **
**Current status, current age or age at death are sometimes included.**

## Data that are typically not captured as structured elements:
Verification of a relative’s medical history
Laboratory results of a family member
Ancestry or country of origin
Twin status
Information about non-biologic relatives (adopted or step relatives)
Pedigree drawing
Patient portals are available, however, without data input standards for family history their usefulness for populating the EMR is uncertain.
Clinical decision support for familial risk assessment and pedigree analysis appears to be lacking.  
No special security or access rules for family history, but this can be customized.

**Verification of a relative’s medical history**
**Laboratory results of a family member**
**Ancestry or country of origin**
**Twin status**
**Information about non-biologic relatives (adopted or step relatives)**
**Pedigree drawing**
**Patient portals are available, however, without data input standards for family history their usefulness for populating the EMR is uncertain.**
**Clinical decision support for familial risk assessment and pedigree analysis appears to be lacking.  **
**No special security or access rules for family history, but this can be customized.**

***What We Have Learned So Far About ******Family History in EMRs/PHRs***

## Most handle genetic test orders in a fashion similar to other laboratory tests.
CPT codes for test orders and LOINC codes for results, but genetic test results are often received in text format. 
Indication for testing can be included (ICD9).
Clinical decision support for interpretation of genetic tests appears to be lacking.
No special security or access rules for genetic test results, but this can be customized.

**CPT codes for test orders and LOINC codes for results, but genetic test results are often received in text format. **
**Indication for testing can be included (ICD9).**
**Clinical decision support for interpretation of genetic tests appears to be lacking.**
**No special security or access rules for genetic test results, but this can be customized.**

***What We Have Learned So Far About ******Genetic Tests in EMRs/PHRs***

## Early Impressions

**Barriers to collection of structured family history data:**
**Time to interview and input data.**
**An impression that family history does not provide actionable information.**
**Lack of specific coding for genetic test results and receiving results in text format hinders clinical decision support.**
**Genetics/genomics is not a current focus of the market.**
**However, this will likely change in the next 5 to 10 years.**

## Conclusions

**Stakeholders need to be informed about the known value of family history and genetic testing for risk assessment, diagnosis, disease management and prevention. **
**Data standards (data elements and terminology) for family history and genetic tests are needed to ensure harmonization across products.**
**Clinical decision support is needed for familial risk assessment and pedigree analysis.**
**Specific codes for genetic test orders and results are needed for clinical decision support.**
**More research is needed defining the clinical validity and utility of family history and genetic testing for risk assessment, disease management and prevention.**
**Standards need to be developed regarding privacy, confidentiality and security of family history and genetic test results in EHRs.**