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Improving High-Risk Clinic Setup with IT Solutions and Risk Assessment Models

Discover how to efficiently set up and manage a high-risk clinic using information technology solutions and advanced risk assessment models. This innovative approach aims to identify mutation carriers early on and provide them with proper care and management to prevent diseases. Learn about workflow optimization, genetic testing strategies, family member screening, and the integration of technology for better patient outcomes and clinic efficiency. Harness the power of IT to enhance patient care and streamline clinic operations for high-risk individuals.

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Improving High-Risk Clinic Setup with IT Solutions and Risk Assessment Models

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  1. How to set up a high risk clinic Kevin S.Hughes, MD, FACS Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital Surgeon The Newton-Wellesley Hospital Breast Center

  2. Problems to solve • Most high risk women not identified • If identified, Risk Clinics could not manage the volume

  3. Risk Clinic Visit

  4. Find 400,000 mutation carriers • Genetic testing is 10% positive • Test 4,000,000 to find 400,000

  5. Find 400,000 mutation carriers • Genetic testing is 10% positive • Test 4,000,000 to find 400,000 • Test 38% of patients you see See 10,526,316, test 4,000,000, find 400,000

  6. Find 400,000 mutation carriers • Genetic testing is 10% positive • Test 4,000,000 to find 400,000 • Test 38% of patients you see See 10,526,316, test 4,000,000, find 400,000 1 hour to counsel & not test 4 hours to counsel & test 10,955 person years

  7. HughesRiskApps modules follow a simple workflow Patient data entry Clinical Decision Support (CDS) Printout with suggested actions Clinician editing/enhancing Clinical Decision Support (CDS) Generate orders and documents

  8. Risk Clinic Visit

  9. Demo

  10. If mutation is found-Find all positive family members Mutation Found Selective Testing Cascade Testing of family members

  11. Monitor cascade testing

  12. Problems to solve • Most high risk women not identified • If identified, Risk Clinics could not manage the volume Information Technology can help solve these problems

  13. Memory-Based Medicine  “Current medical practice relies heavily on the unaided mind to recall a great amount of detailed knowledge”  Crane, Raymond, The Permanente Journal 7:62, 2003

  14. Our Goal Find every mutation carrier for every hereditary syndrome known to man before disease occurs

  15. Adult hereditary syndromes: 188 • Scheuner (Am J Med Gen, 2004)

  16. Find all mutation carriers Family history & selective testing Population based genetic testing

  17. Find all mutation carriers Family history & selective testing Population based genetic testing Adult syndromes Newborn screening

  18. CANCER SPORADIC HEREDITARY CANCER Hereditary vs Sporadic Cancer Knudson’s 2 hit hypothesis

  19. Family history Multiple relatives affected Young age at diagnosis Multiple primary cancers Unusual Cancer Male breast cancer

  20. NCCN Practice Guidelines (2005) • 2. Personal history of breast cancer plus one or more of the following: • a) Diagnosed under 40 years, with or without family history • b) Diagnosed under 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed under 50 years or at least one close blood relative with ovarian cancer • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral • disease • e) Close male blood relative has breast cancer • f) Personal history of ovarian cancer • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish) • 1. Member of a family with a known BRCA1/BRCA2 mutation • 2. Personal history of breast cancer plus one or more of the following: • a) Diagnosed 40 years, with or without family history • b) Diagnosed 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed 50 years or at least one close blood relative with ovarian cancer • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral • disease • e) Close male blood relative has breast cancer • f) Personal history of ovarian cancer • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish) • 3. Personal history of ovarian cancer plus one or more of the following: • a) At least one close* blood relative with ovarian cancer • b) At least one close* female blood relative with breast cancer • at age 50 years or bilateral breast cancer • c) At least two close* blood relatives with breast cancer • d) At least one close* male blood relative with breast cancer • e) Is of Ashkenazi Jewish descent • 4. Personal history of male breast cancer plus one or more of the following: • a) At least one close male blood relative with breast cancer • b) At least one close female blood relative with breast or ovarian cancer • c) Ashkenazi Jewish descent • 5. Family history only: close family member (on the same side of the family) meeting any of the above criteria

  21. Risk Models

  22. BRCAPRO

  23. Software • CancerGene (Euhus) • HughesRiskApps.com

  24. HughesRiskApps.com Patient enters data into Tablet PC or iPad Patient educational materials Clinical Decision Support Reviews Report & Pedigree Reviews suggested management Orders Genetic Testing

  25. Risk Models

  26. 10% Threshold

  27. Newton Wellesley HospitalSince 4/2007 • 49758 unique patients • 2255 (4.5%) mutation risk 10% or greater

  28. Risk Models

  29. BRCA1/2 Mutation carriers in the US ~1,000,000 carriers

  30. BRCA tests: Myriad Genetics ~500,000 Ordered by ~40,000 providers Courtesy of Myriad Genetics

  31. 15 years of genetic testing • Assume 10% positive • 50,000 BRCA1/2 carriers found • 5% of all carriers • Assume most tested patients had cancer • 95 to 99% of unaffected carriers not tested • Likely the best of any adult hereditary syndrome

  32. Our Goal Find every mutation carrier for every hereditary syndrome known to man before disease occurs HughesRiskApps.com

  33. National Health Interview Surveys 2000 & 200535,116 unaffected women 0.96% high risk for hereditary breast/ovarian cancer • 54% aware of genetic testing • 10.4% had discussed genetic testing with Clinician 1.4% had undergone genetic testing Levy et al. Guidelines for Genetic Risk Assessment of Hereditary Breast and Ovarian Cancer: Early Disagreements and Low Utilization. J Gen Int Med

  34. Primary Care Provider • Know 188 syndromes • Know Models to quantitate risk • Know guidelines for who to refer

  35. Dependant on paper form plus memory

  36. NCCN Practice Guidelines (2005) • 2. Personal history of breast cancer plus one or more of the following: • a) Diagnosed under 40 years, with or without family history • b) Diagnosed under 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed under 50 years or at least one close blood relative with ovarian cancer • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral • disease • e) Close male blood relative has breast cancer • f) Personal history of ovarian cancer • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish) • 1. Member of a family with a known BRCA1/BRCA2 mutation • 2. Personal history of breast cancer plus one or more of the following: • a) Diagnosed 40 years, with or without family history • b) Diagnosed 50 years, or bilateral, with at least one close blood relative with breast cancer diagnosed 50 years or at least one close blood relative with ovarian cancer • c) Diagnosed at any age, with at least two close blood relatives with ovarian cancer at any age • d) Diagnosed at any age with breast cancer with at least two close* blood relatives with breast cancer, especially if at least one is diagnosed before age 50 years or has bilateral • disease • e) Close male blood relative has breast cancer • f) Personal history of ovarian cancer • g) Is of ethnic descent associated with deleterious mutations (e.g., Ashkenazi Jewish) • 3. Personal history of ovarian cancer plus one or more of the following: • a) At least one close* blood relative with ovarian cancer • b) At least one close* female blood relative with breast cancer • at age 50 years or bilateral breast cancer • c) At least two close* blood relatives with breast cancer • d) At least one close* male blood relative with breast cancer • e) Is of Ashkenazi Jewish descent • 4. Personal history of male breast cancer plus one or more of the following: • a) At least one close male blood relative with breast cancer • b) At least one close female blood relative with breast or ovarian cancer • c) Ashkenazi Jewish descent • 5. Family history only: close family member (on the same side of the family) meeting any of the above criteria

  37. Currently: Paper + memory Patient completes paper form Reviews data using memory of guidelines Orders Genetic Testing

  38. EHR: Paper + extra work + memory Patient completes paper form Staff enters data into the EHR Reviews data using memory of guidelines Orders Genetic Testing

  39. Today’s EHR CDS

  40. Today’s EHR Click open 4 screens BRCA1 Positive

  41. Today’s EHR

  42. Clinical Decision Support (CDS) Apply Algorithms/Guidelines to patient data Identify best course of action Results displayed as intuitive Visualizations BRCAPRO Mutation Risk 25% Suggest Genetic Testing CDS Facilitates best action as part of workflow

  43. Clinical Decision Support (CDS) Apply Algorithms/Guidelines to patient data Identify best course of action Results displayed as intuitive Visualizations BRCAPRO Mutation Risk 25% Suggest Genetic Testing CDS Facilitates best action as part of workflow

  44. Less work + CDS=Higher Quality Patient enters data into Tablet PC Patient educational materials Clinical Decision Support Reviews Report & Pedigree Reviews suggested management Orders Genetic Testing

  45. Conclusions • Find high risk patients before they develop cancer • Software that can help • CancerGene • HughesRiskApps.com HughesRiskApps.com

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