New England Journal of Medicine Series on Genomic Medicine

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


New England Journal of Medicine Series on Genomic Medicine

New England Journal of Medicine logo

The publication of the draft sequence of the human genome in 2000 heralded the promise of incorporating genomic knowledge into patient care. Ten years later, a new series of articles, beginning with the August 26, 2010 issue of the New England Journal of Medicine, is taking a comprehensive look at what has been accomplished in the quest to screen, prevent and treat disease in the new world of genomic medicine.

The series is edited by W. Gregory Feero, M.D., Ph.D., former special advisor to the director for genomic medicine, National Human Genome Research Institute, and Alan E. Guttmacher, M.D., director of the National Institute of Child Health and Human Development

Series Article #1: Genomic Medicine: An Updated Primer
William Gregory Feero, M.D., Ph.D.

Read the first article in the series by NHGRI's William Greg Feero, M.D., Ph.D., National Institute of Child Health and Human Development Director Alan Guttmacher, M.D. and NIH Director Francis Collins, M.D., Ph.D., plus an editorial by Harold Varmus, M.D., recently named by President Obama to be the new director of the National Cancer Institute.

Read the article: Genomic Medicine: An Updated Primer [nejm.org]

Read Dr. Varmus' Editorial: Ten Years On - The Human Genome and Medicine [nejm.org]


Series Article #2: Genomewide Association Studies (GWAS) and Assessment of the Risk of Disease
Teri Manolio, M.D., Ph.D.

The second in the series, Genomewide Association Studies and Assessment of the Risk of Disease, by NHGRI's Teri A. Manolio, M.D., Ph.D., finds genomewide association studies have proved successful in identifying genetic associations with complex traits, opening doors to potential treatments. This reasonably unbiased approach to surveying the genome has opened doors to potential treatments by revealing the unexpected involvement of certain functional and mechanistic pathways in a variety of disease processes.

Read the article: Genomewide Association Studies and Assessment of the Risk of Disease [nejm.org]


Series Article #3: New Therapeutic Approaches to Mendelian Disorders
Harry Dietz

Read the third article in the series by Harry C. Dietz, who focuses on the therapeutic strategies that exploit a precise understanding of the pathogenesis of a mendelian disease and gives examples to illustrate the strengths and limitations of each approach, as well as the potential for broadening its application to the treatment of more common disorders.

Read the article: New Therapeutic Approaches to Mendelian Disorders [nejm.org]


Series Article #4: Ancestry and Disease in the Age of Genomic Medicine
Charles Rotimi, M.D., Ph.D.

The fourth in the series, Ancestry and Disease in the Age of Genomic Medicine, by NHGRI's Charles N. Rotimi, Ph.D., and University of Utah's Lynn B. Jorde, Ph.D., reviews the current knowledge of human genetic variation and its contribution to human evolutionary history, group identity and health disparities.

Read the article: Ancestry and Disease in the Age of Genomic Medicine [nejm.org]


Series Article #5: Genomics, Type 2 Diabetes, and Obesity
Digital illustration of an obese male

The fifth article in the New England Journal of Medicine series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics, Type 2 Diabetes, and Obesity - Dr. Mark McCarthy considers how the identification of DNA variants influencing disease predisposition can deliver clues to the processes involved in disease pathogenesis. This would, he says, not only spur translational innovation but also provide opportunities for personalized medicine through stratification according to an individual person's risk and more precise classification of the disease subtype, in this case, type 2 diabetes.

Read the article: Genomics, Type 2 Diabetes, and Obesity [nejm.org]


Series Article #6: Genomics and the Continuum of Cancer Care
Human body and a lab tube

The sixth article in the New England Journal of Medicine series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics and the Continuum of Cancer Care by Ultan McDermott, M.B., B.S., Ph.D., James R. Downing, M.D., and Michael R. Stratton, M.D., Ph.D. - reviews the effects that genomic approaches are having on tumor classification, prognostic markers, predictive indicators of drug response, the development of new drug therapies, strategies for monitoring disease, and the management of susceptibility to cancer.

Read the article: Genomics and the Continuum of Cancer Care [nejm.org]


Series Article #7: Genomics and Drug Response
DNA in a bottle

The seventh article in the New England Journal of Medicine series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics and Drug Response by Liewei Wang, M.D., Ph.D., Howard L. McLeod, Pharm.D., and Richard M. Weinshilboum, M.D. - discusses how pharmacogenomics facilitates the identification of biomarkers that can help physicians optimize drug selection, dose, and treatment duration and avert adverse drug reactions. In addition, pharmacogenomics can provide new insights into mechanisms of drug action and as a result can contribute to the development of new therapeutic agents.

Read the article: Genomics and Drug Response [nejm.org]


Series Article #8: Genomics and the Eye
Retinal photograph

The eighth article in the New England Journal of Medicine series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics and the Eye by Val C. Sheffield, M.D., Ph.D., and Edwin M. Stone, M.D., Ph.D. - reviews discoveries in mendelian and complex ophthalmic disorders and their implications for genetic testing and therapeutic intervention.

Read the article: Genomics and the Eye [nejm.org]


Series Article #9: Microbial Genomics and Infectious Diseases
Salmonella Typhimurium

The ninth article in the New England Journal of Medicine series examining the past 10 years of accomplishments in screening, preventing and treating disease - Microbial Genomics and Infectious Diseases by David A. Relman, M.D. - discusses how advances in genomic technologies have permitted a better understanding of the biology of microbes, pathogenic or benign, and the effects of genomic information on our understanding of and response to microbial infections.

Read the article: Microbial Genomics and Infectious Diseases [nejm.org]


Series Article #10: Genomics, Health Care, and Society
Group of people walking with A C T & G overlay

The tenth article in the New England Journal of Medicine series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics, Health Care, and Society by Kathy L. Hudson, Ph.D. - describes the evolving policies pertinent to genetic and genomic research, the integration of genetics into clinical care, and the broader issues raised by genetic technologies and information.

Read the article: Genomics, Health Care, and Society [nejm.org]


Series Article #11: Genomics and the Multifactorial Nature of Human Autoimmune Disease
Figure 1 from the article - Central and peripheral tolerance mechanisms in the adaptive immune system

The eleventh article in the series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics and the Multifactorial Nature of Human Autoimmune Disease by Judy H. Cho, M.D., and Peter K. Gregersen, M.D. - finds that there is much to be learned about the genetics of autoimmunity. The rapid technical progress toward sequencing whole human genomes is likely to lead to another wave of genetic discovery in autoimmunity in the near future.

Read the Article: Genomics and the Multifactorial Nature of Human Autoimmune Disease [nejm.org]


Series Article #12: Genomics of Cardiovascular Disease
Transgenic fly and mouse

The twelfth article in the series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics of Cardiovascular Disease by Christopher J. O'Donnell, M.D., and Elizabeth G. Nabel, M.D. - acknowledges the progress in cardiovascular medicine over the past 50 years but finds the mechanisms underlying individual differences in how cardiovascular disease presents and its pathology are poorly understood. In this article, the authors review the genetic and genomic studies in cardiovascular medicine that have helped to elucidate some of these mechanisms during the past decade.

Read the Article: Genomics of Cardiovascular Disease [nejm.org]


Series Article #13: Genomics and Perinatal Care
Cleavage-stage embyro

The thirteenth article in the series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics and Perinatal Care by Joann Bodurtha, M.D., M.P.H., and Jerome F. Strauss, III, M.D., Ph.D. - encourages clinicians to keep up with advances and national recommendations since all new genomic technologies are potentially applicable to preconception, prenatal and newborn care, but whether and how they will be used are subject to debate.

Read the Article: Genomics and Perinatal Care [nejm.org]


Series Article #14: Genomics, Intellectual Disability, and Autism
A child's face in a puzzle piece. Courtesy of NICHD

The 14th and final article in the series examining the past 10 years of accomplishments in screening, preventing and treating disease - Genomics, Intellectual Disability and Autsim by Heather C. Mefford, M.D., Ph.D., Mark L. Batshaw, M.D., and Eric P. Hoffman, Ph.D. - reviews the techniques of array comparative genomic hybridization (CGH), single-nucleotide-polymorphism (SNP) genotyping arrays, and massively parallel sequencing, and how they have enabled the rapid discovery of chromosomal and single-gene causes of intellectual disability and autism.

Read the Article: Genomics, Intellectual Disability, and Autsim [nejm.org]


An Editorial: Realizing Genomic Medicine
Drs Feero and Guttmacher

A final editorial in the series - Realizing Genomic Medicine by Elizabeth G. Phimister, Ph.D., W. Gregory Feero, M.D., Ph.D., and Alan E. Guttmacher, M.D. - concludes that the advances described in the second Genomic Medicine review series show that genomics has made great strides toward improving human health.

Read the Editorial: Realizing Genomic Medicine [nejm.org]

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Last Updated: June 25, 2012