Genomics and Medicine: The Geneticist’s View

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Genomics and Medicine: The Geneticist’s View

November 20, 2013 by 2012pharmaceutical

Dr. Feldman

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Genomics and Health

Genomics plays a role in nine of the Ten Leading Causes of Death in the United States, most notably cancer and heart disease. These diseases are partly the result of how genes interact with environmental and behavioral risk factors, such as diet and physical activity. Also, a large fraction of children’s hospitalizations are due to diseases that have genetic components.

By studying the relationship between genes, environment, and behaviors, researchers and practitioners can learn why some people get sick, while others do not. Family health history information can also help to identify people who may have a higher risk for certain diseases. Better understanding of genetic and family history information can help researchers and practitioners identify, develop, and evaluate screening and other interventions that can improve health and prevent disease. Individuals can contribute to their health by keeping records of their family health information and sharing this information with their doctor and with other family members.

Genomics and Specific Diseases

Learn More About Genomics and Health

http://www.cdc.gov/genomics/public/index.htm

Genet Med. 2007 Oct;9(10):665-74.

The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?

Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L.

Source

National Office of Public Health Genomics Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA. mkhoury@cdc.gov

Abstract

Advances in genomics have led to mounting expectations in regard to their impact on health care and disease prevention. In light of this fact, a comprehensive research agenda is needed to move human genome discoveries into health practice in a way that maximizes health benefits and minimizes harm to individuals and populations. We present a framework for the continuum of multidisciplinary translation research that builds on previous characterization efforts in genomics and other areas in health care and prevention. The continuum includes four phases of translation research that revolve around the development of evidence-based guidelines. Phase 1 translation (T1) research seeks to move a basic genome-based discovery into a candidate health application (e.g., genetic test/intervention). Phase 2 translation (T2) research assesses the value of a genomic application for health practice leading to the development of evidence-based guidelines. Phase 3 translation (T3) research attempts to move evidence-based guidelines into health practice, through delivery, dissemination, and diffusion research. Phase 4 translation (T4) research seeks to evaluate the “real world” health outcomes of a genomic application in practice. Because the development of evidence-based guidelines is a moving target, the types of translation research can overlap and provide feedback loops to allow integration of new knowledge. Although it is difficult to quantify how much of genomics research is T1, we estimate that no more than 3% of published research focuses on T2 and beyond. Indeed, evidence-based guidelines and T3 and T4 research currently are rare. With continued advances in genomic applications, however, the full continuum of translation research needs adequate support to realize the promise of genomics for human health.

http://www.ncbi.nlm.nih.gov/pubmed/18073579?dopt=Abstract&holding=f1000,f1000m,isrctn

Genomics Translation

The study of genomics will help researchers and health practitioners understand why, in the same environment, some people get sick, while others do not. This information could lead to new and better ways to improve health and prevent diseases in individuals and populations.

A careful, scientific-based process helps to ensure that genomics knowledge and applications are safely and appropriately incorporated into health care and disease prevention practices so individuals and populations can benefit.

Translation research involves many types of research studies, which can take many years to complete. The Office of Public Health Genomics supports and advocates translation research that builds on previous efforts in genomics and other areas in health care and prevention. OPHG promotes four phases of translation research that revolve around developing evidence-based guidelines:

Phase 1 (T1) research seeks to move a basic genome-based discovery into a candidate health application (e.g., genetic test/intervention).
Phase 2 (T2) research assesses the value of a genomic application for health practice leading to the development of evidence-based guidelines.
Phase 3 (T3) research attempts to move evidence-based guidelines into health practice, through delivery, dissemination, and diffusion research.
Phase 4 (T4) research seeks to evaluate the “real world” health outcomes of a genomic application in practice.

As researchers learn more, they identify new areas for research and new ways to address diseases and conditions that affect the public’s health.

The continuum of translation research in genomic medicine. [PDF – 390 KB] Genet Med. 2007 Oct;9(10):665-74.
Beyond Base Pairs to Bedside: A Population Perspective on How Genomics Can Improve Health . Am J Public Health. 2011 Nov 17.
Multilevel research and the challenges of implementing genomic medicine . J Natl Cancer Inst Monogr. 2012 ;2012(44):112-20.
A population approach to precision medicine . Am J Prev Med. 2012 Jun;42(6):639-45.
How can we stimulate translational research in cancer genomics beyond bench to bedside? Genet Med. 2012 Jan;14(1):169-70.
Translational Research in Cancer Genetics: The Road Less Traveled . Public Health Genomics. 2011;14(1):1-8. Epub 2009 Dec 29.

http://www.cdc.gov/genomics/translation/

Genet Med. 2012 Jan;14(1):169-70. doi: 10.1038/gim.2011.12.

How can we stimulate translational research in cancer genomics beyond bench to bedside?

Schully SD, Benedicto CB, Khoury MJ.

Comment on

The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? [Genet Med. 2007]

http://www.ncbi.nlm.nih.gov/pubmed/22237448

Per Med. 2013 Jul 1;10(5):453-462.

Personalized medicine: challenges and opportunities for translational bioinformatics.

Overby CL, Tarczy-Hornoch P.

Source

Program in Personalized & Genomic Medicine and Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.

Abstract

Personalized medicine can be defined broadly as a model of healthcare that is predictive, personalized, preventive and participatory. Two US President’s Council of Advisors on Science and Technology reports illustrate challenges in personalized medicine (in a 2008 report) and in use of health information technology (in a 2010 report). Translational bioinformatics is a field that can help address these challenges and is defined by the American Medical Informatics Association as “the development of storage, analytic and interpretive methods to optimize the transformation of increasing voluminous biomedical data into proactive, predictive, preventative and participatory health.” This article discusses barriers to implementing genomics applications and current progress toward overcoming barriers, describes lessons learned from early experiences of institutions engaged in personalized medicine and provides example areas for translational bioinformatics research inquiry.

KEYWORDS:

biobanks, clinical decision support, computational analyses, education, electronic health records, implementation challenges, individual research results, personalized medicine, translational bioinformatics, translational research

http://www.ncbi.nlm.nih.gov/pubmed/24039624

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