Primer

“If genetics has been misunderstood, genomics is even more mysterious — what, exactly, is the difference? Genetics is the study of single genes and their effects. "Genomics," a term coined only 15 years ago, is the study not just of single genes, but of the functions and interactions of all the genes in the genome. Genomics has a broader and more ambitious reach than does genetics. The science of genomics rests on direct experimental access to the entire genome and applies to common conditions, such as breast cancer and colorectal cancer, human immunodeficiency virus (HIV) infection, tuberculosis, Parkinson's disease, and Alzheimer's disease. These common disorders are also all due to the interactions of multiple genes and environmental factors. They are thus known as multifactorial disorders. Genetic variations in these disorders may have a protective or a pathologic role in the expression of diseases.

The role of genomics in health care is in part highlighted by the decreasing effect of certain environmental factors, such as infectious agents, on the burden of disease. Genomics also contributes to the understanding of such important infectio us diseases as the acquired immunodeficiency syndrome (AIDS) and tuberculosis.

” Alan E. Guttmacher, M.D., and Francis S. Collins, M.D., Ph.D. New England Journal of Medicine Volume 347:1512-1520 November 7, 2002 Number 19

http://content.nejm.org/cgi/reprint/347/19/1512.pdf

Earn CME and learn genetics:

American Academy of Family Physicians Genomics CME Video Series:
http://www.aafp.org/online/en/home/clinical/acf/genomics/acfgenomics.html

Mayo Clinic Proceedings Articles Related to Genomics

Genomics and Molecular Genetics in Clinical Practice
http://www.mayoclinicproceedings.com/pdf%2F7803%2F7803mg%2Epdf

Essentials of Medical Genetics for the Practicing Physician http://www.mayoclinicproceedings.com/pdf%2F7807%2F7807mg%2Epdf

History of Genetics and Sequencing of the Human Genome http://www.mayoclinicproceedings.com/pdf%2F7708%2F7708mg1%2Epdf

Background Principles and Methods in Molecular Genetics http://www.mayoclinicproceedings.com/pdf%2F7708%2F7708mg2%2Epdf

Primer on Medical Genomics http://www.mayoclinicproceedings.com/pdf%2F7807%2F7807mg%2Epdf

Microarray Experiments The Evolving Concept of the Gene http://www.mayoclinicproceedings.com/pdf%2F7805%2F7805mg%2Epdf

Expression Proteomics http://www.mayoclinicproceedings.com/pdf%2F7711%2F7711mg%2Epdf

Bioinformatics
http://www.mayoclinicproceedings.com/pdf%2F7801%2F7801mg%2Epdf

Learn more about the development of core competencies for health professions .
National Coalition for Health Professional Education in Genetic (NCHPEG)
http://www.nchpeg.org

http://content.nejm.org/misc/genmed.shtml
 
Sounding Board: The Charitable Trust as a Model for Genomic Biobanks Winickoff D.E., Winickoff R.N.
N Engl J Med 2003; 349:1180-4, September 18, 2003

Genomics as a Probe for Disease Biology Burke W.
N Engl J Med 2003; 349:969-72, September 4, 2003

Ethical, Legal, and Social Implications Clayton E.W.
N Engl J Med 2003; 349:562-9, August 7, 2003

Cardiovascular Disease Nabel E.G.
N Engl J Med 2003; 349:60-72, July 3, 2003

Breast and Ovarian Cancer Wooster R., Weber B.L.
N Engl J Med 2003; 348:2339-47, June 5, 2003

Molecular Diagnosis of the Hematologic Cancers Staudt L.M.
N Engl J Med 2003; 348:1777-85, May 1, 2003

Alzheimer's Disease and Parkinson's Disease Nussbaum R.L., Ellis C.E.
N Engl J Med 2003; 348:1356-64, April 3, 2003

Hereditary Colorectal Cancer Lynch H.T., de la Chapelle A.
N Engl J Med 2003; 349:919-32, March 6, 2003

Drug Therapy: Pharmacogenomics — Drug Disposition, Drug Targets, and Side Effects Evans W.E., McLeod H.L.
N Engl J Med 2003; 348:538-49, February 6, 2003

Inheritance and Drug Response Weinshilboum R.
N Engl J Med 2003; 348:529-36, February 6, 2003

Population Screening in the Age of Genomic Medicine Khoury M.J., McCabe L.L., McCabe E.R.B.
N Engl J Med 2003; 348:50-8, January 2, 2003

Genetic Testing Burke W.
N Engl J Med 2002; 347:1867-75, December 5, 2002

Genomic Medicine — A Primer Guttmacher A.E., Collins F.S.
N Engl J Med 2002; 347:1512-21, November 7, 2002

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