Articles on Genetics and Genomics for Clinicians

National Human Genome Research Institute

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


Articles on Genetics and Genomics for Clinicians

A set of short, clinically relevant articles on genetics and genomics available here for health care professionals.

2007-2009 Articles

2009

Creating An Educational Blueprint PDF file
Patients expect that their primary care physician will be able to advise them on genomic topics, yet evidence suggests that primary care providers are ill prepared to do so. June 2009

A Personalized Paradox PDF file
In cutting edge health care systems, genomics and personalized medicine are changing care. May 2009

Prostate Cancer PDF file
Prostate cancer is a leading cause of cancer morbidity and mortality in the United States. Considerable effort has gone into public health programs designed to increase screening by digital rectal exams and prostate specific antigen testing - much to the dismay of men on their 50th birthdays. March 2009

An Historical Call to Action PDF file
The inability to easily capture structured family history in electronic charts will impede the ability of health care providers to fully assess disease risk for many common conditions such as cardiovascular disease, diabetes, deep vein thrombosis and cancers. March 2009

Unraveling Autism PDF file
Autism and the related autism spectrum disorders are an enigmatic and substantial cause of developmental delay. February 2009

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2008

Which Came First, the Cow or the Enucleated Oocyte? PDF file
As primary care providers we are frequently asked about issues that aren't strictly related to diagnoses and treatments, and increasingly food safety seems to be on the minds of patients. January 2008

Carrying Carrier Screening into the Future PDF file
Screening for pre-clinical disease is a core feature of primary care medicine. On a busy day, we usually do this without much conscious thought - for example, taking blood pressures or measuring developmental milestones. February 2008

Putting a Bug in Your Ear About Genetic Tests PDF file
A more humble area of "genetic" testing with clear immediate relevancy to the care of patients has been making quiet, but increasingly numerous, inroads into clinical medicine: nucleic acid-based testing for microbes. March 2008

Old Drugs New Tricks PDF file
The prospects for successful primary gene therapy for most disorders remain distant. However, remarkable gains - fueled by discoveries in genomics - have been made in understanding the pathophysiology of many genetic disorders, and are yielding therapeutic breakthroughs. April 2008

Good Times PDF file
The last two weeks of May 2008 will not soon be forgotten by the employees of the National Human Genome Research Institute (NHGRI)or the larger genetics community. In that brief interval we celebrated both the passage of the Genetic Information Nondiscrimination Act, and mourned the news of the impending departure of the only director the NHGRI has known Francis Collins, M.D., Ph.D. As an observer might surmise, these landmark events were not independent, and only time will tell which will have a more lasting effect on the future of genomics in health care in the United States. June 2008

Melanoma PDF file
A small spot on the skin gone bad, melanoma strikes and too frequently kills young people; a seemingly innocuous primary lesion of sufficient depth can portent a dire prognosis. This year the American Cancer Society and the National Cancer Institute estimate 62, 480 U.S. citizens will be given the diagnosis, and 8,420 will die from it. August 2008

Race, Genetics and Medicine PDF file
Assessment of individuals through the lens of a population sub-group occurs at many junctures in the care delivery process, and rests on epidemiologic data demonstrating that disease prevalence varies among population groups. November 2008

Smoking PDF file
The burden of smoking on our society is remarkable. Estimates are that as many as 1 in 10 of all deaths are smoking related. What can genomics bring to bear on this issue?November 2008

The Long Arm of Your Chromosomes and the Law PDF file
A great debate is currently raging in the wider genetics community directly relevant to day-to-day clinical medicine. In the last three years the advent of genome-wide association studies (GWAS) has facilitated the discovery of greater than 180 markers for risk of a growing list of common chronic diseases, including cancers, diabetes, coronary heart disease and Alzheimer's. December 2008

Breaking the Code PDF file
In a recent public lecture Harold Varmus, Nobel laureate, former head of the NIH, and president of Memorial Sloan-Kettering Cancer Center admonished the world to be a bit more rational about the near-term prospects for finding "a" cure for cancer. December 2008

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2007

This Program Brought to You ByPDF file
Get ready for a new round of discussions regarding advertisements with your patients: DTC marketing has entered the genomic age. January 2007

Dashboards, Detroit and DNAPDF file
This year has seen a flurry of national legislative activity pertaining to genetics in healthcare. Perhaps the most important is the genetic information non-discrimination act (GINA). April 2007

Gee Whiz What's a GWAS? PDF file
A few examples of discoveries about the genetics of common disease that recently made news seem. May 2007

At Your Next Job Interview PDF file
Residents of the United States are only partially protected from genetic discrimination by a complicated patchwork of state laws that vary widely in scope and effect. June 2007

Personalized Medicine With a Genomic Twist PDF file
Though we rationalize our medication choices to ourselves and our patients, in the end, much of how we prescribe medicine relies on trial and error. This is inefficient and, all too often, dangerous. July 2007

Inherited Cancer Syndromes in My Practice? PDF file
The disconnect between our perception of the prevalence of hereditary nonpolyposis colorectal cancer and the actual number of patients who are affected does our patients a disservice. Recognizing those at risk could truly save their lives. August 2007

Family History in a Flash PDF file
My Family Health Portrait can be completed at home by patients and can provide the health care provider with a bonanza of succinct, legible, organized family health information. September 2007

Sorry But It's Not Your Father's Genome PDF file
Our evolving understanding of the genome is leading to advances in therapeutic and diagnostic technology that even 10 years ago would have seemed more like something from Star Trek than a near reality. December 2007

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Last Reviewed: February 20, 2014