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Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine.

ABSTRACT: Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph, we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits, and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly penetrant genes are provided and contrasted with recently discovered genomic variants associated with modest increases in cancer risk. We describe the scope of knowledge, tools, and expertise required for the translation of complex genetic and genomic test information into clinical practice. The challenges of genomic counseling include the need for genetics and genomics professional education and multidisciplinary team training, the need for evidence-based information regarding the clinical utility of testing for genomic variants, the potential dangers posed by premature marketing of first-generation genomic profiles, and the need for new clinical models to improve access to and responsible communication of complex disease risk information. We conclude that given the experiences and lessons learned in the genetics era, the multidisciplinary model of genetic cancer risk assessment and management will serve as a solid foundation to support the integration of personalized genomic information into the practice of cancer medicine.

SUBMITTER: Weitzel JN

PROVIDER: S-EPMC3346864 | biostudies-literature | 2011 Sep-Oct

REPOSITORIES: biostudies-literature

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Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine.

Weitzel Jeffrey N JN Blazer Kathleen R KR MacDonald Deborah J DJ Culver Julie O JO Offit Kenneth K

CA: a cancer journal for clinicians 20110819 5

Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph, we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits, and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly ...[more]

PMID: 21858794

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Project description:Background:The growing need for palliative care (PC) among patients with serious illness is outstripped by the short supply of PC specialists. This mismatch calls for competency of all health care providers in primary PC, including patient-centered communication, management of pain and other symptoms, and interprofessional teamwork. Simulation-based medical education (SBME) has emerged as a promising modality to teach key skills and close the educational gap. This paper describes the current state of SBME in training of PC skills. Methods:We conducted a systematic review of the literature reporting on simulation experiences addressing PC skills for clinical learners in medicine and nursing. We collected data on learner characteristics, the method and content of the simulation, and outcome assessments. Results:In a total of 78 studies, 76% involved learners from medicine and 38% involved learners from nursing, while social work (6%) and spiritual care (3%) learners were significantly underrepresented. Only 16% of studies involved collaboration between participants at different training levels. The standardized patient encounter was the most popular simulation method, accounting for 68% of all studies. Eliciting treatment preferences (50%), delivering bad news (41%), and providing empathic communication (40%) were the most commonly addressed skills, while symptom management was only addressed in 13% of studies. The most common method of simulation evaluation was subjective participant feedback (62%). Only 4% of studies examined patient outcomes. In 22% of studies, simulation outcomes were not measured at all. Discussion:We describe the current state of SBME in PC education, highlighting advances over recent decades and identifying gaps and opportunities for future directions. We recommend designing SBME for a broader range of learners and for interprofessional skill building. We advocate for expansion of skill content, especially symptom management education. Finally, evaluation of SBME in PC training should be more rigorous with a shift to include more patient outcomes.

Dataset Information

Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine.

Publications

Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine.

Similar Datasets

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