By Paul Billings, Sara Riordan, Bedir Shather, Elissa Levin

Since the completion of the Human Genome Project in 2003, genomic technologies have advanced at an astounding rate, even eclipsing the pace of the biennial doubling of computer processing power described by Moore's law. While DNA analysis and genetic testing were for decades reserved for those who were thought to have or be at risk for a rare inherited disease, increasingly faster and cheaper DNA sequencing technologies have made it possible for genomic tests to become available to a broader patient population. Couples planning a pregnancy can receive carrier testing for hundreds of diseases with a single test. People with cancer can have their tumor's unique genomic signature analyzed, providing their oncologists with valuable information about the aggressiveness of their cancer and treatments that might be more effective. And individuals with an unexplained constellation of symptoms can have their whole genome or exome (the 1-2% of the genome that provides the instructions for making all the proteins in the body) sequenced, with the goal of ending the diagnostic odyssey and finally arriving at the cause, and possibly the cure, for their disease. While the value to groups and populations of genetic and genomic tests has generally not been studied, the benefits derived by individual families is well documented.

The increasing availability of clinical genomic testing has the potential to introduce a paradigm shift in clinical practice - from a one-size-fits all approach to one that is truly personalized based on each individual's unique biology. However, there are substantial hurdles that need to be overcome before genomics can be integrated into routine clinical care. With the vast and ever-evolving array of genomic test offerings being marketed to consumers and health care providers, clinicians can be overwhelmed and unsure of which test to recommend for a patient. Furthermore, genomic tests can generate a tremendous amount of data. A single exome sequence can produce tens of gigabytes of output, often requiring a separate hard drive or significant cloud-based storage. Sorting through the data and prioritizing clinically relevant information are daunting tasks for any bioinformatician, and can seem downright impossible to the clinician. Finally, much of what is encoded by the genome is not well understood, and the clinical consequences of most variations in the genome are unknown. Concern about what to tell patients when a "variant of unknown significance" is encountered remains a significant challenge for clinicians.

Physicians have expressed concern about their own knowledge gaps in genomics and the guidelines for its use, prompting calls for more education and training to facilitate the effective integration of genomics into clinical practice.1,2 In response, several medical schools and other graduate programs for health professionals have begun incorporating more genomics education into their curricula. However, these efforts do not address the need of keeping health care providers up to date with rapid advancements in technology and our understanding of the genome. Clinicians require practical, point-of-care resources and tools to provide accessible opportunities for genomics education and knowledge, and promote more confidence in the use of genomic technologies and tests. Indeed, focus groups have indicated that the majority of physicians would incorporate genomics into their practice if they had access to the necessary knowledge and tools.3 To bridge this gap, we encourage the following strategies:

Increase the amount of continuing education opportunities in genomics

In a field in which knowledge and technologies are constantly evolving, continuing education opportunities are an effective way to expose physicians and other health care providers to current, evidence-based knowledge from experts in the clinical applications of genomic technologies. While a classic format for offering continuing education is the in-person professional conference, web-based and electronic mediums offer more flexibility at a lower cost. Webinars and multimedia courses, whether live or self-paced, accommodate busy clinic schedules and can be participated in by desktop or mobile device. There is evidence that such focused education opportunities can change the way providers view genomic technologies: primary care providers who were exposed to an interactive workshop and a series of PowerPoint educational modules demonstrated improved knowledge and increased confidence when undertaking genetic risk assessment or recommending genomic tests.4 Widespread uptake of continuing education opportunities by health care providers should be encouraged by offering continuing medical education (CME) or other education credits for completion of the course or conference.

Utilize the expertise of genetic counselors

The traditional view of a genetic counselor is an individual who helps to translate complex genomic information to a patient, analyzing the patient's family history and discussing various genetic testing options. However, genetic counselors are also excellent expert resources for physicians and other health care providers. Genetic counselors provide, either at the point of care or in follow-up consultation, adjunct educational information, vetted resources, and clinical decision-making guidance. Many genetic counselors also teach courses and provide lectures for health care providers in academic and continuing education settings. With a battery of genomic testing options available, and a host of different clinical guidelines, studies have demonstrated that physicians may not correctly refer for genetic testing, and that this may be due to lack of appropriate training and education in genomics.5,6 However, utilizing the expertise of genetic counselors can inform appropriate genomic test ordering and consequently result in a savings of health care dollars.7 Thus, genetic counselors can serve as a critical, readily available resource for physicians and other health care providers. The National Society of Genetic Counselors maintains a searchable database of genetic counselors in all practice areas on its Web site.

Develop innovative point-of-care tools for clinicians

The complexity and rapid pace of genomic technologies, and the vast amounts of data generated from whole genome or exome sequencing, require innovative tools to aid clinicians in offering and interpreting genomic tests at the point of care. Clinical decision tools that integrate a patient's family/medical history with established clinical guidelines, and interface with a menu of available genomic tests, can guide clinicians in appropriate test ordering. Mobile device applications that are searchable by patient symptoms, family history, gene, and disease can aid in the differential diagnosis. Tools that interpret the tremendous amount of data produced by whole genome/exome sequencing, filter the data according to a patient's symptoms or family history, and provide clinically useful reports are necessary in order for physicians to incorporate this type of testing into their practice. Finally, innovative methods for genomic data storage that securely allow clinicians to access a patient's data through an electronic medical record, ensuring a uniform ontology, are key to allowing a patient's genomic data to be used as a valuable resource over the course of a patient's lifecycle.

Enhance patient-driven care

Informed, empowered patients actively participating in their care improves quality and reduces unnecessary and unwanted clinical efforts.  By improving the public's knowledge of genomics and its clinical uses in our school systems and emphasizing the role of patient education and consent in care settings, the optimal use of family history information and testing results will be hastened in rapidly evolving clinical settings.

Genomic technologies offer great promise in achieving a truly personalized approach to disease prevention, diagnosis, and treatment. However, such promise cannot be realized without arming clinicians with the appropriate knowledge, tools and resources. A variety of academic and government efforts are underway to offer more formalized genomics education and training opportunities for health professionals, but there also must be investment in knowledge sources that can be utilized at the point of care. If genomics is to be successfully integrated into mainstream clinical practice, the immediate demand for state-of-the-art, widely accessible genomics tools and resources needs to be met with speed and innovation. 


Sara Riordan, M.S., CGC is a board-certified genetic counselor and Senior Genomic Service Specialist at Life Technologies, Corp. 

Bedir Shather
, MBChB (MD), BSc , is a physician and medical consultant at Life Technologies.

Elissa Levin
, M.S., CGC is a board-certified genetic counselor and Director of Clinical Support Services at Life Technologies.

Paul Billings
, MD, PhD, is Vice Chair of the Board of Directors of the Council for Responsible Genetics and Chief Medical Officer of Life Technologies. This article represents the authors' own views rather than those of Life Technologies.


1. Klitzman, R., et al. 2013. Attitudes and practices among internists concerning genetic testing. J Genet Counsel. 22:90-100.

2. Avard, D. and Knoppers, B. M. 2009. Genomic medicine: considerations for health professionals and the public. Genome Med. 1:25.

3. Najafzadeh, M., et al. 2013. Barriers for integrating personalized medicine into clinical practice: a qualitative analysis. Am J Med Genet Part A. 161A:758-763.

4. Carroll, J. C., et al. 2009. Genetic education for primary care providers: improving attitudes, knowledge, and confidence. Can Fam Physician. 55:e92-e99.

5. White, D. B., et al. 2008. Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiol Biomarkers Prev. 17:2980-2986.

6. Brandt, R., et al. 2008. Cancer genetics evaluation: barriers to and improvements for referral. Genet Test. 12:9-12.

7. ARUP Laboratories. 2011. Value of genetic counselors in the laboratory. Salt Lake City, UT.

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