Genomic medicine prepares for takeoff with continuous clinical interpretation

Genomic medicine has the potential to impact all areas of medicine and change clinical practice. In contrast to the trial-and-error of today's practice, genomic medicine aims to provide cost-effective care, which is customized to the patient's current clinical and genetic background.

The prevailing view is that genomic medicine adoption is slow and limited to small esoteric markets. In this review, we present evidence that this view may be too conservative. Here we highlight several trends that suggest genomic medicine is growing in multiple dimensions. With this growth, health organizations need to consider services to fully meet the needs and unique opportunities of genomic medicine.

What is genomic medicine?
Nucleic acids, e.g. deoxyribonucleic (DNA) and ribonucleic acids (RNA), are the blueprints of life. Differences in nucleic acid sequence and pattern uniquely identify organisms and even individuals within the same population. While DNA and RNA tests are commonplace for testing pathogens such as viruses and microbes, nucleic acid testing of the patient expands the spectrum of clinical use cases.

For patients, genetic testing can have profound near-term and long-term implications. Differences between individuals called genetic variants are responsible for a variety of diseases, which either manifest at birth or predispose patients for disease later in life.

Genetic variants also influence an individual's response to specific treatments. In pharmacogenomics, genetic variants affect enzymes responsible for metabolizing medications. This variation in drug metabolism affects the therapeutic response of some medications and can reduce the protective effect of others. Human Leukocyte Antigen (HLA) variants can also be markers which portend significantly higher risk for life-threatening adverse drug events. Lastly, new mutations, which arise later in life and can initiate cancer, can be exquisitely sensitive to medications which are pathway- and mutation-specific. For these reasons and more, genomic medicine is positioned to transform the practice of medicine.

Physicians and payers are adopting it
A common perception is that growth of genomic medicine is slow. A survey of 300 physicians looked at the adoption of genetics testing. Respondents reported being unsure of which test to order (70 percent), uncertain about the clinical utility (52 percent) or that the test would not be reimbursed by the insurer (53 percent)1. Many of these concerns are well-founded; for example, a NIH-sponsored registry of clinical genetic tests (called the Genetic Test Registry) currently lists a catalog of almost 50,000 tests and 490 laboratories. Additionally, genetic test coverage by insurers is often heterogeneous and non-transparent. An assessment of existing reimbursement policies from large payer organizations in 2013 revealed that only a third of insurers (65 of 206) display their reimbursement criteria publicly2.

Despite the above perceptions, certain specialties are emerging as early adopters. Oncology and obstetrics professionals are quickly entering the world of genomic medicine, joining traditional specialties such as medical genetics, genetic counseling and pathology, by engaging in cancer genomic testing for therapeutic decision support, screening for congenital conditions, and providing interpretive services. Also, pharmacogenomic testing (gene testing to determine drug effectiveness and safety) is the most commonly billed genetic test3. Adding to this growth, medication labeling information has become more standardized regarding pharmacogenomic differences in drug response and safety, allowing for improved automation of the testing and reporting processes4.

Patients are interested
According to patient surveys, more than 50 percent of adults are interested in genetic testing, and six percent indicate that they have already undergone genetic testing5. Based on fee-for-service data, more than 1.4 million Medicare beneficiaries received genetic tests in 20136. Genetic tests were ordered for a variety of clinical needs, including evaluating hereditary disease predisposition (e.g. breast and ovarian cancer risk), pharmacogenomics (e.g. CYP2D6, CYP2C9, CYP2C19) and cancer therapy (e.g. molecular targets or biomarkers). Not included in this statistic are well-established pathogen tests (e.g. viral detection and viral load) and new tests such as non-invasive prenatal tests (NIPT, e.g. circulating fetal DNA markers). Worldwide, several hundred thousand NIPT tests were performed in 2013 compared to tens of thousands in 20127.

The direct-to-consumer (DTC) market also indicates that the public is interested and understands the potential impact of genomic medicine. Today, more than 200 DTC genomic companies focus on areas such as genealogy, ancestry, health risk factors and microbiomes8. A leading ancestry-oriented DTC vendor reported that the 1 million genotype threshold was crossed in 2015. Broader DTC genomic offerings include identifying nutritional and lifestyle proclivities, genetically-derived talents for family planning, paternity reports and forensics. The growing segment of DTC users provides prima facie evidence that genomic medicine is gaining acceptance and the public is gaining experience in DNA sampling, receiving genetic results and understanding their impact on physical traits and heritability. Gaps remain, however, in the empowerment of patients and their providers to take action based on of many of the results furnished by these DTC test kits.

Multiple specialties will use genomic medicine
Genomic data impacts multiple areas of medicine. The clinical actionability of a test result relies heavily on the treating physician and their specialty. While patients are accustomed to seeing physicians in various specialties with domain expertise in specific medication classes and treatments, clinical specialists will also have distinct areas of expertise using genomic medicine and pharmacogenomics. For example, a cardiologist will be highly knowledgeable about genetic variants which impact the effectiveness of anti-platelet inhibitors and anti-coagulation therapy, whereas an HIV specialist will be keenly interested in a patient's HLA variant status when choosing antiretroviral therapies. These examples highlight a clinical landscape in which multiple specialties will need access to the same genomic test results for different clinical scenarios. The reusability of genomic data will position a variety of specialists to integrate genomic medicine as new knowledge and clinical standards arise. Over time, ancillary stakeholders in healthcare -- e.g. pharmacists, care managers and population health managers -- might also begin utilizing genomic medicine insights to better achieve early preventive care and better quality outcomes in an era of value-based medicine9.

Beyond testing
Obtaining and sharing genomic data is not enough. In both the DTC market and clinical arena, regulators and insurers seek clinical interpretation and actionable insights. Insurers frequently require prior vetting by genetic counselors and providers who understand the clinical need of the patient before authorizing genetic testing10. In the DTC market, several genomic medicine vendors have received FDA notifications and, in some cases, temporary moratoriums to discontinue 'as-is' marketing of genomic medicine. A primary concern is the need for premarket FDA review and physician oversight. Such supervision is particularly important, given the potential for a poorly informed consumer to unnecessarily pursue risky prophylactic procedures such as a mastectomy or oophorectomy or discontinue a critical medication. Notably, the FDA has also expressed concern over the definition of clinical oversight. For example, a physician directly affiliated with a testing company does not appear to suffice as a treating physician-patient relationship11.

Both DTC genomics and modern clinical practice in the face of rapidly diminishing genomic testing costs require well-informed treating providers, who can fully explain genomic insights to patients and recommend appropriate clinical actions. Providers will need to assimilate information from hundreds of data sources and up-to-date precision medicine guidance using genomic medicine analytic services. Insurers will also need genomic services to provide clinical and business insights that help inform authorization and payment policies.

Genomic medicine is growing quickly. The focus on the volume of genetic testing may be too limited an indicator to properly estimate the growth and impact of genomic medicine. Genomic results can be re-interpreted and re-purposed to inform many aspects of patient care over time. Increasingly, we see public, provider and payer adoption, improving clarity in clinical standards and regulation and expanding services for accessibility and interpretation. Concurrent with this growth, healthcare organizations will increasingly be asked to support multiple uses of genomic data beyond storage, accessibility and its initial interpretation.

Continuous re-interpretation of genomic data is required within the context of patient clinical data and the workflows of providers and payers to support timely and cost-effective delivery of care and reduced medical risk. These trends indicate that the exponential growth of genomic medicine will increasingly depend on the accessibility of genomic data and the availability of clinically aware solutions for personalized patient care and population health management.

About the authors
Jaime Barea MD, Director of Medical Genetics, Tim Sayed MD, MBA, Vice President, Physician Engagement and Benjamin Yu, MD PhD, Vice President, Medical Informatics and Genomics are physicians at Interpreta, a provider of a real-time analytics engine that continuously updates, interprets and synchronizes clinical and genomics data, creating a personalized roadmap and enabling the orchestration of timely care. For correspondence, please email

1 Pharmacogenomic Knowledge Gaps and Educational Resource Needs Among Physicians In Selected Specialties, Katherine A Johansen Taber and Barry D Dickinson, July 10, 2014.
2 Genetic Testing Insurance Coverage Trends: A Review Of Publicly Available Policies From The Largest US Payers, Michael D Graf, Denise F Needham, Nicole Teed & Trisha Brown, May 2013.
3 Utilization of Genetic Tests: Analysis Of Gene-specific Billing in Medicare Claims Data, Julie A. Lynch PhD, RN; Brygida Berse PhD; W. David Dotson PhD; Muin J. Khoury MD, PhD; Nicole Coomer PhD & John Kautter PhD, January 26, 2017.
4 Guidance for Industry, Clinical Pharmacogenomics: Premarket Evaluation in Early-Phase Clinical Studies and Recommendations for Labeling, U.S. Department of Health and Human Services, January 2013.
5 The Public & Genetic Editing, Testing & Therapy, Harvard, T.H. Chan, January 2016.
6 Utilization of Genetic Tests: Analysis Of Gene-specific Billing in Medicare Claims Data, Julie A. Lynch PhD, RN; Brygida Berse PhD; W. David Dotson PhD; Muin J. Khoury MD, PhD; Nicole Coomer PhD & John Kautter PhD, January 26, 2017.
7 NIPT Continues to Take Off in 2013 as Indications, Insurance Coverage Grow, Genomeweb, Julia Karow, January 2, 2014.
8 Only a Click Away — DTC Genetics for Ancestry, Health, Love...And More: A View of The Business And Regulatory Landscape, Andelka M. Phillips, March 2016.
9 Advancing Pharmacogenomics as a Component of Precision Medicine: How, Where, and Who? JA Johnson & KW Weitzel, November 9, 2015.
10 Genetic Testing Insurance Coverage Trends: A Review Of Publicly Available Policies From The Largest US Payers, Michael D Graf, Denise F Needham, Nicole Teed & Trisha Brown, May 2013.
11 FDA Challenges Direct-To-Consumer Genetic Tests, Law360, Nancy K. Stade, Torrey A. Cope, Ryan J. Kaat A, March 22, 2016.

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