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Genomics and Health Impact Blog

A blog devoted to discussing best practices and questions about the role of genomics in disease prevention, health promotion and healthcare.


Selected Category: genomics

Genome Sequencing in the Clinic – The question is not whether the glass is half-full or half-empty but whether or not the glass is the right tool.

Categories: genomics, whole genome sequence

W. Gregory Feero, MD, PhD, Maine Dartmouth Family Medicine Residency

two half full glasses of water - one with DNA inside it and one with DNA next to itEarlier this fall, the Blue Cross Blue Shield Technology Evaluation Center produced a report [PDF 210.52 KB] evaluating the clinical use of exome sequencing in the diagnosis of rare diseases. That this report was even generated is remarkable, as it marks an appreciable level of penetration by exome sequencing into clinical care. A decade ago, sequencing and interpreting even the small portion of the human genome that the exome represents would have been cost-prohibitive. Now, clinical grade exome sequencing with interpretation can be obtained for around $5-10,000. This is still a relatively big price tag but it is well within an order of magnitude of what insurers cover for many diagnostic tests. The Blue Cross report signals that sequencing with next-generation, high-throughput technologies has progressed in the minds of many from strictly a research endeavor into the realm of clinical reality.

When Should We All Have Our Genomes Sequenced?

Categories: genomics, personal genomics, personalized medicine, screening, whole genome sequence


a crowd of people with DNA in the foregroundRecently, George Church, a prominent genomics researcher and leader of the Personal Genome Project asked why so few people are opting to inspect their genome. The cost and accuracy of genome sequencing have certainly improved dramatically. He clearly sees the health benefits of whole genome sequencing. He states “we should avoid being judgmental of people who practice genomic modesty or who choose not to act on genome information, but we should also ask if we are providing adequate and equal access to education about the benefits and risks of genome information.”  Will access and education be sufficient to do the job?  Or do we also need additional evidence on the interpretation, utility and value of our genome in health care and disease prevention?

Public Health Genomics in Action: Reducing Morbidity and Mortality from Familial Hypercholesterolemia

Categories: genomics, public health

Discussion Panel at the Familial Hypercholesterolemia Summit

Discussion Panel at the Familial Hypercholesterolemia Summit

In September, 2013, I participated in the International Familial Hypercholesterolemia (FH) Summit  in Annapolis, Maryland. The event was sponsored by the FH Foundation, a patient-centered organization formed in 2011 to raise awareness about the condition and to develop actions for saving lives of patients and families with FH.  The meeting brought together, from the US and around the world, a mix of researchers, patients, industry representatives, state public health programs, and clinical practitioners–including primary care providers and specialists in genetics, cardiology, and lipidology–to develop a public health approach to reduce the burden of FH.

Genetic Epidemiology: What a Difference 20 Years Can Make!

Categories: epidemiology, genomics


In my introduction to the  textbook Genetic Epidemiology: Methods and Applications just published by Dr. Melissa Austin and colleagues, I commented on the remarkable evolution of the field in the 20 years since I wrote Fundamentals of Genetic Epidemiology with Drs. Bernice Cohen and Terri Beaty from Johns Hopkins University School of Public Health.

Public Health Impact of Genome-Wide Association Studies: Glass Half Full or Half Empty?

Categories: genomics

two half full glasses with chromosomes

Genome-wide association studies (or GWAS) are large-scale genetic investigations of human disease that measure simultaneously hundreds of thousands of genetic variants scattered throughout the human genome. GWAS burst onto the scientific scene in the mid 2000’s. Propelled by technological advances and falling prices, GWAS have revolutionized the search for genetic influences on common diseases of major public health significance. Since 2005, >1,600 publications have identified > 2,000 replicated genetic associations with > 300 common human diseases and traits.

Why We Can’t Wait: A Public Health Approach to Health Disparities in Genomic Medicine

Categories: genomics, public health

Selected Conference Speakers and Organizers; Photo credit: Deneb Semprum

In May 2013, I attended and presented at the “Why We Can’t Wait Conference to Eliminate Health Disparities in Genomic Medicine.”  The conference was organized by the University of Miami and Stanford University, with attendees and speakers from academia, consumer organizations, government agencies, public health, clinical practice, and the private sector. A key rationale for the event is the increasing evidence that the promise of genomic medicine is not being realized equitably, highlighting the importance of dedicated resources and partnerships to address disparities in research and health care (e.g. by race/ethnicity, income and socioeconomic status).

A Public Health Genomic State-by-State Clickable Map: Accelerating Implementation of Genomics Applications to Improve Population Health

Categories: genomics

Karen Greendale, MA, CGC, McKing Consulting, Contractor for the Office of Public Health Genomics, Centers for Disease Control and Prevention

US MapIn recent years, public health programs in several states have used innovative approaches to implement evidence-based genomic testing recommendations in an effort to improve health outcomes for people at increased hereditary risk for breast, ovarian, colorectal and other cancers.  For example, the Michigan Department of Community Health [PDF 1.04 MB] has partnered with payers in their state to extend coverage consistent with the U.S. Preventive Services Task Force 2005 BRCA recommendation to over 6 million Michigan residents.  Connecticut is one of several states where the state health department has used cancer registry data to identify thousands of state residents who might benefit from genetics services for hereditary breast, ovarian, colorectal and other cancers based on evidence-based recommendations. 

New Products from the EGAPP Working Group: Further Development of Evidence Review Methodology and More Recommendations in Genomic Medicine

Categories: evidence-based medicine, genomics

W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention

The independent EGAPP working group (EWG) held its 27th meeting on May 13-14, 2013 via a virtual online venue. The EWG has been very active since the last meeting.  Highlights included:EGAPP logo

Genomes at CDC: Man, Mouse, and Microbe—it’s a Genomic World

Categories: genomics

The proposed Advanced Molecular Detection initiative aims to help CDC apply molecular sequencing and bioinformatics techniques to solving outbreaks and controlling infectious diseases. This approach has been called “genomic epidemiology”—using pathogen genome sequences to detect emerging diseases, assess their potential virulence and resistance to antibiotics, and monitor their spread in populations. The focus is on pathogen genomes, applying advances in molecular and bioinformatics methods first developed for human genome research.*

Each week, OPHG’s Genomics & Health Impact Update includes a list of articles on genomics published by CDC scientists. These articles are selected from the latest edition of Science Clips, an online bibliographic digest that CDC shares weekly with the public health community and the public. What genomic studies are CDC public health scientists doing—and which genomes are they writing about? We went to the archives to find out.

In 2012, Science Clips listed 178 articles on genomics with one or more CDC authors. Of these, 111 (62%) concerned bacterial, viral, fungal, or parasite genomes; 61 (34%) concerned the human genome; and 6 (3%) concerned genomes of other animal species (Figure).

CDC-authored publications on genetics and genomics, 2012 (n=178) Human genome-61, Microbial genomes-111, Animal genomes-6

Walking Before Running: Genomic Medicine 10 Years After the Human Genome Project

Categories: genomics

W. Gregory Feero, MD, PhD, Maine Dartmouth Family Medicine Residency

10 year celebration with double helixesIt has been said that the folks at the National Human Genome Research Institute (NHGRI) never pass up the chance for well-deserved celebration – and I should know, I was one of them.  Probably at least a few readers have noticed that the Human Genome Project (HGP) has celebrated a number of milestones and anniversaries over the years – and 2013 is no exception.   April 14, 2013 marks the 10th anniversary of the completion of the Human Genome Project, and as one might expect, NHGRI has a number of commemorative events planned.  Though most individuals outside of the genomics research community think only of the most obvious output of the HGP – the actual linear sequence of A’s, G’s, C’s and T’s that make up the human blueprint , the project comprised much more than that.  Additional components included sequencing of several important model organisms, creation of maps of the human genome that have greatly facilitated the work of discovering mutations causal of disease, and development of technologies to make genomics research cheaper, faster, and more accurate.  Reflecting on the last decade of progress in basic and biomedical research made possible by genomics, it is not too difficult to conclude that the HGP was a great public investment in science made in the second half of the 20th century.

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