Genetic Testing Challenges
Genetic Testing Challenges | “Personalized Medicine: Trends and Prospects for the New Science of Genetic Testing and Molecular Diagnostics,” Dr. Reed Tuckson, UnitedHealth Group Center for Health Reform & Modernization, Dr. Otis Brawley, American Cancer Society, Simon Stevens.
Studies show physicians concerned about cost, lack of familiarity, support

WASHINGTON, DC—Greater use of genetic testing would occur if physicians had the necessary tools, according to a new study by UnitedHealth Group’s (NYSE: UNH) Center for Health Reform & Modernization.

To view “Personalized Medicine: Trends and Prospects for the New Science of Genetic Testing and Molecular Diagnostics” online, visit

The report, “Personalized Medicine: Trends and Prospects for the New Science of Genetic Testing and Molecular Diagnostics,” presents new findings on how genetic tests may facilitate disease diagnosis, target prevention, and ensure that patients receive the medicines that will best treat their conditions.

“We focused on three main questions in the report – the current state of genetic testing, physician and consumer perspectives on it, and practical actions to ensure safeguards while accelerating progress,” said Reed Tuckson, MD, chief of medical affairs at UnitedHealth Group, and former chair of the U.S. Health and Human Services Secretary’s Advisory Committee on Genetics, Health and Society.     

The key challenge facing physicians, Tuckson pointed out, is the extraordinary plethora of information that must be analyzed to provide optimal care to each unique individual. “A commitment to lifelong learning is an obvious responsibility for a health professional,” he pointed out. “That being said, physicians must be supported with actionable information at the point of care and they’ll need to learn how to use this information in the most appropriate way. Finally, it’s the responsibility of all healthcare stakeholders to help physicians to have convenient access to the data, analytics and actionable intelligence necessary to meet their professional obligations, and let’s not forget that, especially in genetic medicine, the patient’s values  and  perspectives are essential to the clinical decision making process.” 


Rising Costs

Some $5 billion is being spent annually on genetic testing in the United States; costs may easily increase to $25 billion by 2021. Genetic testing is currently optional for roughly 2,500 conditions, including cancers and communicable diseases. Full genome sequencing, which maps an individual’s entire genetic code, is also expected to become widely available, possibly beginning as soon as later this year. 

“Genetic science offers unprecedented potential to prevent disease and improve diagnosis and treatment, ushering in an era of truly personalized care,” said Simon Stevens, executive vice president of UnitedHealth Group, and chairman of the UnitedHealth Center for Health Reform & Modernization. “But for patients to realize these practical benefits, we’ll also need new models of research and care delivery combined with informed choice and appropriate consumer safeguards.”

Otis Brawley, MD, chief medical officer of the American Cancer Society, said advancing genetic testing is “one of the greatest contributions we can make to the future of personalized medicine. Doing it conscientiously requires taking a close look at the challenges ahead with a focus on bringing to consumers the full benefits that this new technology promises.”


Doing the Math

On average, physicians report having recommended genetic testing for 4 percent of their patients over the past year. Looking ahead five years, physicians on average feel that 14 percent of their patients will have had a genetic test; however, nearly three-in-five doctors say that they’re very concerned about the cost of genetic tests.

“We hope that, when used properly and appropriately, (genetic testing) will enhance the precision in which healthcare is delivered; thereby, increasing healthcare quality and lowering costs,” said Tuckson. “However, today’s delivery system is too often characterized by misuse and inappropriate use of healthcare assets. Genetic-based technologies will increase the complexity of clinical decisions and could, without concerted efforts, lead to further waste in healthcare delivery. As such, it’s important to have specificity regarding the appropriateness criteria and clinical guidance for genetic tests and effective point-of-care decision making aids for clinicians and patients.” 

A stumbling block: the coding system used nationwide to monitor medical tests offers few codes to describe genetic tests for specific diseases.

“Most physicians see the largest barrier to use of genetic testing from the MD perspective as cost and reimbursement for tests,” said Tuckson, noting the working paper discusses how payers make coverage decisions for genetic testing. “In general, public and private payers cover the costs of diagnostic testing as broadly defined, and may have specific medical policies in this area of genetic testing, depending upon the clinical evidence for a specific test.”

Tuckson said it’s reasonable to expect variability across health coverage plans for the near future. “The goal will be to standardize our understanding of which patients are appropriate for what interventions,” he noted. 



The report makes six recommendations to ensure that patients and physicians benefit from the new science:

  • Protecting and supporting patients through data confidentiality, nondiscrimination safeguards and decision support;
  • Strengthening clinical evidence to inform patients and physicians about which tests work best, for specific conditions;
  • Better aligning of reimbursement incentives to encourage innovation and appropriateness in test development and usage;
  • Improving care monitoring and transparency of test coding practices;
  • Ensuring that lab tests are performed safely and accurately; and
  • Making it easier for health professionals to stay abreast of new developments in genetic science.

“We discuss in the paper ways to make it easier for health professionals to stay up-to-date as genetic science evolves,” said Tuckson. “Those include greater use of genetic counselors, improvements and updates to existing guidelines and guidelines review, cross-training opportunities with individuals in the bioinformatics field and health information technology applications that could keep clinicians informed about new tests and their clinical applications.”

Certainly, the mapping of the human genome and use of genetic testing in diagnosing and treating diseases are landmark breakthroughs in modern medicine, said Tuckson. “It’s now up to all of us to foster an environment that encourages innovation in these tests and related treatments,” he said, “as well as their responsible use, to bring about real-world improvements in care.”


Going Mainstream

It’s not a matter of if genetic testing will become the norm, but when, said Tuckson.

“It’s our sense that genetics is rapidly moving from the era of ‘genetic exceptionalism’ to simply being ‘medicine,’” he said. “Predictions on timelines when this will be fully realized must be considered in the context of a continuum. This continuum, based upon the already extraordinary number of genetic-based tests and related expenditures, has already begun.”