Genetic Cancer Risk Assessment: in the Era of Personalized Medicine Yuan Wenqing Lab of Genetics Mar. 24, 2014.

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Presentation transcript:

Genetic Cancer Risk Assessment: in the Era of Personalized Medicine Yuan Wenqing Lab of Genetics Mar. 24, 2014

Outline Barriers to Access and Effectiveness of GCRA Current State of the Art and Evolving Models in the Practice of GCRA The Multidisciplinary Model of GCRA

Current State of GCRA Genetic Cancer Risk Assessment (GCRA): GCRA is an interdisciplinary medical practice that employs a growing arsenal of genetic and genomic tools to identify individuals and families with inherited cancer risk.

Current State of GCRA-Pedigree Drawing Genetics in Medicine (2011) 13, 651–657. Family history is the single most important indicators of single gene hereditary cancer risk for which early recognition and intervention could be lifesaving

Current State of GCRA-Pedigree Drawing Family History Tools Self-administered paper Web-based surveys Structured interview

Current State of GCRA-Tools of GCRA Practice

Genet Med (7):

Current State of GCRA-Pedigree Drawing The FHS-7 questionnaire for breast cancer: BMC Cancer. 2009; 9: 283.

Current State of GCRA-Pedigree Drawing The pre-procedural Colorectal Cancer Risk Assessment Tool: Am J Gastroenterol (6):

Current State of GCRA-Pedigree Drawing The Breast Cancer Genetics Referral Screening Tool: brcagenscreen. org/

Current State of GCRA-Pedigree Drawing

The family HealthLink J Clin Oncol. 2002; 20(2):

Current State of GCRA-Pedigree Drawing Self-administered paper Web-based surveys Structured interview Family History Tools

Current State of GCRA-Pedigree Drawing Pedigree Drawing and Database Programs: Progeny Software Cyrillic CancerGene: BRCAPRO, MMRpro, PancPRO, MelaPRO Hughes riskApps system My Family Health Portrait pedigree program

Current State of GCRA-Differential Diagnosis Clinical syndromes Pathology report review

Current State of GCRA-Mutation Probability Estimate

Current State of GCRA-Risk Prediction

Barriers to Access and Effectiveness of GCRA Systemic Barriers Patient-Related Barries

The Complexity of Genetic and Genomic Test Information

The Multidisciplinary Model of GCRA Multidisciplinary team for GCRA:

The Multidisciplinary Model of GCRA ACADEMIC MODEL Academic/medical center model: patients referred to cancer genetics program, seen by interdisciplinary team (genetic counselor, nurse, physician); pregenetic and postgenetic testing, counseling, and integrated risk assessment COMMUNITY MODEL Collaborative model: community center partners with academic center of excellence Medical practice model: oncologist as genetic consultant or other trained/designated physician initiates genetic testinga; only refers patients with positive or ambiguous results to genetics provider (who may or may not be onsite) Genetic referral model (or cancer risk referral model): patient referred to community-based cancer risk counselor (GC/APN) for genetic counseling/testing; summary note sent to referring physician Triage model: APN performs initial personal/family history screening; triages to GC or further assessment; referring physician provides patient recommendations Group model: at-risk individuals attend a group-focused cancer genetics presentation, followed by individual counseling sessions as indicated based on risk and/or as desired by patient Telemedicine model: community center servicing a geographically or socioeconomically underserved population partnered with an academic center of excellence Remote open-access model: educational materials and telephone and/or Internet counseling provided by for-profit company

The Multidisciplinary Model of GCRA

Riding on the crest! Thank you!