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How Managed Care Can Advance Responsible Genetic Testing


Health plans and patients need to know they can trust their diagnostic service provider, because genetic tests are not always the best option.

When the human genome was first sequenced in the early 2000s, the president of the American College of Medical Genetics, R. Rodney Howell, MD, declared “The implications for health care are tremendous…it will take time to gather the full benefit of the Human Genome Project, but this will no doubt change the practice of medicine in every way.”

Yet, more than a decade later -- one filled with tremendous new discoveries in genetics -- a survey in the Journal of Family Medicine found that a majority of primary care physicians (54%) felt that they were not knowledgeable about available genetic tests, and their perception of the utility of genetic tests varied wildly, depending on the disease state.1

Given slower adoption of genetic testing over more than a decade, diagnostic information service providers of laboratory genetic tests must take a critical look at the reason why so many clinicians lack deep knowledge of advanced diagnostics involving genetic or molecular analysis. In many cases, the root cause is not the lack of clinical or economic utility of these services -- it is physicians’ lack of practical knowledge about how and when to use genetic insights in care management and confidence they’ll be reimbursed for patients.

In a perfect world, innovation, adoption, and reimbursement would develop and occur in lock step. Tests that provide clinically valuable insights to influence patient care would be developed and made available, physicians would use those tests in practice, and payers would cover much of the costs.

But healthcare is imperfect. Genetic tests and other advanced diagnostics are developed, but often introduced to a medical community with limited prior understanding about their potential application and benefits. Health plans too may be blindsided, unprepared to reimburse a new service based on limited research or, at least, research deemed credible by the plan.

It’s a Catch-22. Without clinical and economic evidence, payers are unlikely to issue favorable coverage and reimbursement decisions; without reimbursement or coverage, physicians may be less likely to order the tests.

Within this environment, the quality and innovativeness of the service provider can go a long way toward promoting appropriate use of genetic and other advanced diagnostic services. When evaluating a diagnostic provider and its services, health plans and physicians should carefully consider several factors that can greatly influence quality and care:

  • Trustworthiness. At the 2012 “Reimbursement Models to Promote Evidence Generation and Innovation for Genomic Tests” workshop, Palmetto representatives emphasized the roles that labs can play in physician education: ensuring appropriate test use and assisting with test interpretation.2

Put more directly, health plans and physicians, along with patients, need to know they can trust their diagnostic service provider. A genetic test is not always the best option. A comparatively less expensive routine blood test might be as effective in guiding care in some cases. Likewise, a panel of actionable, validated genes may produce fewer opportunities for confusion than a very large panel with genes that are not well characterized. Does the provider push for more or higher-priced services when something less expensive may be just as good?

For instance, it is not uncommon for physicians to mistakenly order genetic tests because they lack a complete family history for the patient. When we notice a pattern of inappropriate overutilization, Quest Diagnostics arranges for genetic counselors to review members’ personal history as well as the family history extending back several generations (to reduce potential conflicts of interest, these patient counselors are not employed by Quest, but access is provided through a third-party vendor). We then provide the collected history to the physician, who in turn is better informed and may opt to order fewer, but more appropriate tests. There is great power in collaboration amongst trusted partners and this process has helped to reduce overutilization of services, benefiting the patients, physicians and health plans.

  • Connects Patients, Payers, and Physicians. When genetic testing is ordered for a patient, it may be under emotionally fraught circumstances, such as for evaluation for susceptibility to cancer. A diagnostic service provider should aim to connect patients, payers, and physicians to ensure a smooth testing process for all concerned.

Pre-authorization is a case in point. A diagnostic service provider that can facilitate pre-authorization helps the patient and provider estimate the level of reimbursement and patient responsibility before testing occurs. In today’s era of high-deductible plans, such insights can be invaluable for patients. Pre-authorization can also reduce turnaround time to report results by ensuring the health plan has the documentation it needs before testing occurs. In working with 1 health plan to pre-authorize BRCA1 and BRCA2 testing, Quest Diagnostics reduced the average turnaround time from 40 days to 24 to 48 hours, largely by reducing the time needed by the payer to authorize testing.

Connecting patients, payers, and physicians also extends to the comprehensiveness of services. In many cases, one evaluation with a certain lab test leads to another episode of care with other tests. A specialty lab focused on noninvasive prenatal screening, for instance, may not offer confirmatory testing, such as chromosome analysis of amniotic fluid. A provider that offers the gamut of diagnostic services may be better positioned to help the physician manage the patient across the care continuum.

  • Scientific Expertise. Genetics is a murky science, and discerning which discoveries are actionable and which are not requires significant expertise. Consider that a typical genome sequence has about 3.5 million differences from a reference genome, but only about 0.6 million are rare or novel. Accurate identification and interpretation of the clinical significance of genetic variants is critical to quality testing. In this regard, the quality of the medical staff and the databases they refer to in order to determine variant classifications can influence whether testing is clinically actionable.

As genetic discoveries grow, the role of diagnostic testing to inform clinical decisions is likely to expand as well. Responsible stewards of genetic and other advanced diagnostic services are best positioned to favorably influence care. Health plans that prioritize trustworthy, expert providers will be best positioned to ensure advanced diagnostics deliver on their potential to improve managed care and patient health.


  1. Mainous AG, Johnson SP, Chirina S, Baker R. Academic family physicians' perception of genetic testing and integration into practice: A CERA study. Fam Med 2013;45(4):257-262.
  2. Reimbursement Models to Promote Evidence Generation and Innovation for Genomic Tests Workshop. National Institutes of Health, Bethesda, Maryland. October 24, 2017
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