EDITORIAL Editorials represent the opinions

of the authors and JAMA and

not those of the American Medical Association.

Genomics in Health Care

Call for Papers for the 2013 Theme Issue
W. Gregory Feero, MD, PhD genome sequence information for both clinical research
and care. Without novel methods for providing near real-
Phil B. Fontanarosa, MD, MBA time, low-cost interpretation of the genome, use of high-
throughput technologies like next-generation sequencing

S
INCE THE 2001 PUBLICATION OF THE DRAFT HUMAN GE- will be limited to a subset of highly resourced academic
nome sequence,1 genomic technologies have revo- medical centers.
lutionized the conduct of biomedical research. Cur- Third, robust and cost-effective strategies need to be de-
rent studies, many of which would have been veloped for generating evidence of benefit for emerging ge-
unimaginable as few as 5 years ago, are reshaping under- nomic technologies. Genomics is coming of age during a
standing of the foundations of health and disease in pro- time of global fiscal budget austerity, and traditional clini-
found and often unexpected ways. Most important to the cal trials are extremely expensive. Models for funding clini-
practicing clinician, advances in genomic technologies are cal trials that have worked for blockbuster drugs are not likely
yielding tangible benefits to increasing numbers of pa- to work for molecular diagnostics and other genomic tech-
tients. Although some have bemoaned the relatively slow nologies with small target populations or low profit mar-
pace of translation of genomic discovery to improved health gins. Lack of an evidence base, measured in terms of im-
outcomes, it is important to recognize that the intersection proved morbidity and mortality, will hinder clinical guideline
of genomic science and health care is in its infancy.2 development and the willingness of payers to reimburse for
Despite this, today, virtually every medical specialty is af- genomic technologies.
fected by genomic advances, although the influence of these Fourth, relatively little is known about how to deliver ge-
advances in day-to-day care varies. For example, in a re- nomic services to ensure equitable, effective, and efficient
port recently published by a major health insurer, molecu- care. Ample evidence suggests that there are significant
lar diagnostics were estimated to account for 8% of expen- knowledge deficits among clinicians and the public regard-
ditures on laboratory diagnostic testing in the United States ing genomics, and there is a shortage of health care profes-
in 2010, with projected double-digit yearly growth rates sionals adequately trained to deliver genomic services.4 This
through 2020.3 In the setting of limited health care re- suggests that proven genomic technologies must be inte-
sources, the rapidly expanding expenditure on molecular grated into health care workflows in ways that are not de-
diagnostics affects even those clinicians who have never or- pendent on clinician expertise. In all probability this will
dered a genetic test. The advent of very low-cost ap- necessitate development of electronic clinical decision sup-
proaches for genome sequencing promises to further accel- port tools that are capable of providing point-of-care re-
erate the discovery process, and for individuals affected by sources for consumers and health care professionals.
currently untreatable conditions the advances cannot come Fifth, genomic technologies are challenging the bound-
too quickly. aries of what is possible vs what is desirable in the context
Considerable challenge and opportunity exist at the in- of human health and health care. Direct-to-consumer ge-
tersection of genomics and health care. Five topic areas span- netic testing, the blurring of lines between clinical care and
ning the continuum of translational research stand out. First, research, and assisted reproductive technologies are but a
human genome structure and function are dauntingly com- few of the arenas in which questions about genomics and
plex. Much remains to be learned about gene structure, func- society have rapidly transitioned from theoretical to con-
tion, and regulation and how these processes relate to nor- crete. Proven frameworks for education, communication,
mal and disease phenotypes in the context of differing and decision making are needed to guide health care con-
environments. New experimental and computational ap- sumers, clinicians, health care organizations, and policy mak-
proaches are needed to sort out this complexity. ers in the current time of often highly polarized health care
Second, assigning causality (or at least a probability of discourse.
causality) to newly detected variations in an individual’s
Author Affiliations: Dr Feero (w.gregory.feero@mainegeneral.org) is Contribut-
genome is currently an extremely arduous and costly ing Editor and Dr Fontanarosa is Executive Deputy Editor, JAMA. Dr Feero is also
task. This limits the ability to harness the potential of with the Maine Dartmouth Family Medicine Residency, Fairfield.

©2012 American Medical Association. All rights reserved. JAMA, September 5, 2012—Vol 308, No. 9 923

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 EDITORIAL

To focus attention on and inform readers about these ity that are not of sufficiently broad interest for JAMA
important issues, in April 2013, JAMA will publish a may automatically be considered for publication in
theme issue and The JAMA Network Journals5 will pub- appropriate subspecialty journals in The JAMA Network.
lish theme issues or articles devoted to genomics in Manuscripts received before November 1, 2012, will have
health care. We are pleased to announce a call for sub- the best chance for consideration for inclusion in the
missions of original scholarly works related to this topic. 2013 theme issue on Genomics in Health Care. The edi-
For the purpose of the issue, genomics will be liberally tors look forward to receiving your manuscripts for this
interpreted to encompass investigations involving a holis- important issue of JAMA.
tic approach to understanding how genes and gene prod- Conflict of Interest Disclosures: The authors have completed and submitted the
ucts interact with each other and the environment to ICMJE Form for Disclosure of Potential Conflicts of Interest and none were re-
ported.
result in health or disease. Manuscripts addressing 3
major thematic areas related to genomics will be consid-
REFERENCES
ered for publication: (1) advances in the understanding
of health and disease states; (2) advances in prevention, 1. Lander ES. Initial impact of the sequencing of the human genome. Nature. 2011;
470(7333):187-197.
diagnosis, and treatment of health conditions; and (3) 2. Green ED, Guyer MS; National Human Genome Research Institute. Charting a
advances in the translation of genomics to improved course for genomic medicine from base pairs to bedside. Nature. 2011;470
(7333):204-213.
health outcomes in individuals and populations, includ- 3. Personalized Medicine: Trends and Prospects for the New Science of Genetic
ing issues related to a broader context of genomics in Testing and Personalized Medicine. United Health Center for Health Reform and
society. In addition to original research reports, we also Modernization; March 2012. http://www.unitedhealthgroup.com/hrm
/UNH_WorkingPaper7.pdf.
invite submission of authoritative review articles and 4. Genetics Education and Training: Report of the Secretary’s Advisory Com-
scholarly Viewpoints that inform the topic of genomics in mittee on Genetics, Health, and Society. http://oba.od.nih.gov/oba/SACGHS
/reports/SACGHS_education_report_2011.pdf. February 2011. Accessed July 30,
health care. 2012.
Authors are encouraged to consult the Instructions for 5. Bauchner H, Albert DM, Coyle JT, et al. The JAMA Network Journals: new names
for the Archives Journals. JAMA. 2012;308:1.
Authors for guidelines on manuscript preparation and 6. JAMA Instructions for Authors. http://jama.jamanetwork.com/public
submission.6 Importantly, articles of high scientific qual- /instructionsForAuthors. Updated April 25, 2012. Accessed August 8, 2012.

924 JAMA, September 5, 2012—Vol 308, No. 9 ©2012 American Medical Association. All rights reserved.

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