A Decision Support Tool to Facilitate Cancer Risk Assessment and Referral for Genetics Services. Kristen Vogel Postula, MS, CGC & Leigh Baumgart, PhD

Transcription

1 A Decision Support Tool to Facilitate Cancer Risk Assessment and Referral for Genetics Services Kristen Vogel Postula, MS, CGC & Leigh Baumgart, PhD

2 Importance of Family History Increasing awareness of genetic contribution to both common and rare disease 17 US Preventive Services Task Force (USPSTF) recommendations that take family health history into account to guide delivery of preventive services Ongoing National efforts to improve collection of family history Surgeon General : Family Health History Initiative Office of Public Health Genomics (OPHG) : Family History Public Health Initiative National Human Genome Research Institute (NHGRI) : public service announcements on importance of family history

3 Heritable Common Disease: Cancer 5-10% of cancer is hereditary? higher percentage as we learn about moderate cancer susceptibility genes

4 Cancer Susceptibility Syndromes Numerous well-described cancer susceptibility syndromes that can often be identified through family history collection and risk assessment PTEN TP53 MLH1/ MSH2/ MSH6/ PMS2 BRCA1/ BRCA2 VHL STK11 RET CDKN2A CDH1 SMAD4 APC RB1

5 End Goal: Reduce Morbidity and Mortality Identification of increased risk can lead to early detection and risk reduction Changes in surveillance» Methodology» Age to initiate» Frequency Chemoprevention Surgical Prevention

6 Current Practices: Cancer Family History Sussner et al. (2011): Survey of Primary Care and Ob/Gyns providers (n=143) 77.5% routinely obtain fam hx of cancer Wood et al (2014) 271 practices participating in the ASCO s Quality Oncology Practice Initiative EHR review Sussner, KM, et al. (2011). Genet Med 13(9): Wood ME, et al (2014). J Clin Oncol;32(8):824-9.

7 Current Practices: Referral for Cancer Genetic Risk Assessment (CGRA) Sussner et al. (2011): 44.1% currently refer patients for CGRA 14.3% felt confident in ability to make appropriate referrals Wood et al (2014) Sussner, KM, et al. (2011). Genet Med 13(9): Wood ME, et al (2014). J Clin Oncol;32(8):824-9.

8 NorthShore Needs Assessment for Referral Tool Aim: Determine if patients at risk for hereditary cancer susceptibility have undergone formal assessment by Medical Genetics Methods: NorthShore University HealthSystem patient population Query of clinical data repository for those who met select criteria and cross-references with those who have undergone genetic risk assessment» ICD9 codes recorded from » Age

9 Criteria for Genetic Risk Assessment: 2012 NCCN Clinical Practice Guidelines in Oncology

10 Criteria for Genetic Risk Assessment: 2012 NCCN Clinical Practice Guidelines in Oncology

11 Results Baumgart L, Vogel KJ, Modi M, Hulick PJ, Cohn W, Knaus WA (2013). Need for an automated EMR linked genetics referral tool. American Medical Informatics Association (AMIA) Symposium, Washington DC, Nov 16-20, 2013.

12 Results Overall, only 18% of patients meeting criteria underwent genetic risk assessment For 5 of the 9 criteria, <10% of patients underwent genetic risk assessment Limitations: Only select NCCN criteria were assessed Data does not take into account patients referred for but who declined genetic risk assessment OR patients who underwent genetic risk assessment with an outside provider Baumgart L, Vogel KJ, Modi M, Hulick PJ, Cohn W, Knaus WA (2013). Need for an automated EMR linked genetics referral tool. American Medical Informatics Association (AMIA) Symposium, Washington DC, Nov 16-20, 2013.

13 Best Practices Define minimum cancer family history Identify barriers to accurate family history collection and interpretation

14 ASCO Expert Statement: Minimum Family History

15 ASCO Expert Statement: Barriers and Suggestions Clinicians may lack adequate tools and expertise to collect, access and interpret family history to evaluate cancer risk. Suggestions: Improved family history collection within electronic health records (EHRs)» ability to run risk models and draw pedigrees» Adoption of patient data entry

16 What is Health Heritage?

17 Health Heritage: Overview 1. Automatic transfer and interpretation of detailed personal data from EMR 2. Sharing of accurate info between family members Integration with EMR 3. Continuously updated and personalized scientific guidance to patients and their providers Family Sharing Personalized risk assessment & guidance Easy for patients to collect, maintain, and share their family health history. 17

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20 1. Integration with EMR EMR HH: Demographics Problem List Medical History Surgical History Encounter Diagnoses Admissions Diagnoses Pathology Notes Procedure Notes Custom-built Natural Language Processing (NLP) 20

21 1. Integration with EMR EMR data supplemented with patient-entered data using branching logic 21

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23 2. Family sharing 23

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25 3. Personalized risk assessment Current Conditions: Breast Cancer Colorectal Cancer Melanoma Ovarian Cancer Pancreatic Cancer Prostate Cancer Uterine Cancer Lung Cancer Thyroid Cancer Cardiovascular Disease Diabetes Hypertension Stroke Alzheimer s/dementia Based on guidelines where available (e.g., NCCN) and extensive literature review 25

26 3. Personalized risk assessment Each cancer is broken into groups Within each group are related risk factors (or rules) Each risk factor is associated with a risk level & management recommendations Breast Cancer Groups: 1) Alcohol 2) Benign Breast Disease 3) Cowden Syndrome 4) Hereditary Breast and Ovarian Cancer Syndrome 5) Hereditary Diffuse Gastric Cancer Syndrome 6) Hormone Replacement Therapy 7) 26

27 3. Personalized risk assessment Each cancer is broken into groups Within each group are related risk factors (or rules) Each risk factor is associated with a risk level & management recommendations 4) Hereditary Breast and Ovarian Cancer Syndrome Risk Factors: a. Patient has BRCA1 or BRCA2 mutation b. Patient has first-degree relative with BRCA1/2 mutation c. Patient history consistent with HBOC syndrome d. Patient has first- or second-degree relative with history consistent with HBOC syndrome e. 27

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29 Patient history consistent with HBOC syndrome 29

30 3. Personalized risk assessment Each risk factor is linked to a risk level: Population (no risk factors identified) General population screening messages Moderate (behavioral or moderate familial risk) Evidence-based screening & risk reduction strategies Potentially Increased (pt meets criteria for genetics evaluation, relative with syndrome/mutation) Genetic Services High (pt with syndrome/mutation or other high-risk factor) Genetic Services & evidence-based screening & risk reduction strategies Lowered (history of risk-reducing surgery) Not Applicable (PHx of cancer or organ removed) No Risk (male/female specific) 30

31 3. Personalized risk assessment Each risk factor is linked to recommendations: 1. Genetic / Specialty Services 2. Cancer Screening 3. Cancer Risk Reduction Thorough evidence review process Based on conceptual model Mediators (worry) impact outcomes (intention to screen) Team includes genetic counselors, disease-specific genetic specialists, primary care providers 31

32 3. Personalized risk assessment 32

33 3. Personalized risk assessment 33

34 3. Personalized risk assessment 34

35 3. Personalized risk assessment 35

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37 1. Integration with EHR HH EHR: Chart Review Results Review Inbasket message to Primary Care Provider 37

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39 Demo: Case 1

40 Demo: Case 2

41 Demo: Case 3

42 Health Heritage: Clinical Validity Study

43 Clinical Validity Study - AIMS AIM 1: Determine if HH appropriately identifies individuals who do (and do not) meet NCCN criteria for genetic risk assessment Aim 2:» Inclusive of all NCCN Br/Ov and CRC genetic criteria Determine concordance of risk stratification between HH and Medical Geneticist» Breast, Ovarian, and Colorectal Cancers

44 Clinical Validity Study - METHODS 100 patients seen at adult genetics clinic in 2012 Personal and family medical history and genetic test results entered into HH HH recommendation to consider appointment with Medical Genetics HH risk stratification Retrospective chart review by genetic counselor Fulfillment of NCCN guidelines for a genetics evaluation Geneticist risk stratification 44

45 Clinical Validity Study - RESULTS High risk population 87 met NCCN criteria for breast/ovarian cancer 2 met criteria for colorectal cancer 3 met criteria for multiple cancers 8 met no criteria for assessment Appropriate referrals for genetics evaluation NCCN Health Heritage Y N Y 90 2 N 1 7 Sensitivity = 98% Specificity = 88% 45

46 Clinical Validity Study - RESULTS Risk Stratification For patients at increased risk for breast, ovarian, or colorectal cancer as determined by a medical geneticist, HH agreed 89%, 93%, and 83% of the time, respectively. Discordances were the result of both complex clinical situations better handled by the geneticist and also Health Heritage s strict adherence to incorporating all information. 46

47 Stats so far at NorthShore ~7,000 people have clicked on the site ~2,000 people have meaningfully interacted 27% of users were identified as having elevated risk for at least one cancer 12% of users were identified as high or potentially high risk for at least one cancer 16% of users were recommended to have a risk consultation with Center for Medical Genetics or the High Risk Breast Program 47

48 Where are we going? Develop a public, cloud-based version so that NorthShore patients can connect with non-ns family members Expand risk assessment to cardiovascular disease, neurological conditions, diabetes, etc. Pull data from additional sources Add spouse and non-blood relatives to family tree Enhance family sharing 48

49 Questions?