There are many reasons people get sick — from the quality of their health care to environmental factors and behavioral patterns like diet or smoking. Genetic factors — including those aspects of our individual physical makeup that can offer clues to the kinds of diseases for which we are susceptible —also impact our health.
And with the number of genetic tests increasing to more than 50,000 in the last five years, “precision medicine” or “personalized medicine” can play a part in helping to screen for, diagnose, prevent, treat and even cure disease. By tapping into a deeper understanding of a person’s genetics, precision medicine has the potential to unlock opportunities for prevention as well as more focused and effective treatments.
“As our understanding of genomics continues to grow, we are seeing the development of a new generation of genetic testing and targeted treatments,” said Joanne Armstrong, M.D., M.P.H., senior medical director at Aetna. “Although we have a long way to go to replace the current ‘one size fits all’ medical model with individualized genetics diagnostics and hyper-specific treatments, the evolution of this field is exciting.”
Aetna, a CVS Health company, has helped lead the way in that evolution, developing the first comprehensive program for breast and ovarian cancer testing using the BRCA gene test. Aetna also was the first health plan to create and implement a genetic information privacy policy and the first to develop telephone genetic counseling services.
“Aetna has been at the forefront of personalized medicine for more than two decades,” said Heather Shappell, precision medicine program manager, Aetna. “We’ve driven many firsts in this field. High standards and a focus on member safety and health are the foundation of what we do.”
Armstrong noted that as genetic testing and precision medicine become more common, the health care industry must take steps to ensure the quality of 
results so that patients can get the care they need.
Toward that end, Aetna became the first health plan to require quality credentialing of participating genetic testing labs. The company continues to lead on this front, requiring genetics laboratories with which they contract to enter test results into a public domain database called ClinVar. This database compiles information about human genomic variations in order to advance our scientific understanding of the relationship of genes to overall health.
This type of validation is particularly important in precision medicine. For example, while a lab may determine that a patient has a specific gene variation, the mere presence of that variation isn’t necessarily linked to the presence of a particular disease. Sharing the anonymous patient data among clinicians from around the world allows researchers to discover patterns and possible connections between genomic variations and specific diseases.
“Genetics is an evolving field where many unanswered, critical questions still exist,” Armstrong noted. “For example, as the science of personalized medicine matures, new challenges are emerging. New gene therapies recently approved by the Food and Drug Administration have the potential to cure genetic-based diseases, many of which are lethal. The staggering costs, however, strain the ability of our health care system to provide access to these therapies.”
Precision medicine is poised to expand beyond single disease and gene tests like BRCA and into processes that map out a person’s entire genome, providing clues to help predict future disease. As this type of personalized medicine becomes a more prevalent part of how patients are diagnosed and treated, Aetna is utilizing its long history of leadership in the field to help ensure that members receive the right treatments in the right place at the right time.