genetic cancer risk assessment: in the era of personalized medicine

Genetic Cancer Risk Assessment: in the Era of Personalized Medicine

Yuan WenqingLab of GeneticsMar. 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


Family History Tools

Self-administered paper

Web-based surveys

Structured interview

Current State of GCRA-Tools of GCRA Practice

Current State of GCRA-Tools of GCRA Practice

Genet Med. 2009. 11(7): 495-506.


The FHS-7 questionnaire for breast cancer:

BMC Cancer. 2009; 9: 283.


The pre-procedural Colorectal Cancer Risk Assessment Tool:

Am J Gastroenterol. 2009. 104(6): 1508-18.


The Breast Cancer Genetics Referral Screening Tool:

http://www. brcagenscreen. org/

http://www/


The family HealthLink

J Clin Oncol. 2002; 20(2):528-37.


Self-administered paper

Web-based surveys

Structured interview

Family History Tools


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


• Multidisciplinary team for GCRA:

The Multidisciplinary Model of GCRAACADEMIC 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 assessmentCOMMUNITY MODEL

Collaborative model: community center partners with academic center of excellence

Medical practice model: oncologist as genetic consultant or other trained/designatedphysician 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

Riding on Riding on

the crest! the crest!

Thank you!Thank you!

genetic cancer risk assessment: in the era of personalized medicine

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