Two techs in lab examining test tube; expanded genetic testing concept

Embracing Expanded Genetic Testing for Better Pharma Research

The global market for genetic testing will continue to grow at a rate of more than 8 percent per year through 2027, according to estimates from a Research and Markets report. As interest in and access to genetic testing expands, so does the quantity and quality of genetic data generated by these tests.

This data offers rich opportunities for pharmaceutical researchers. It may be particularly valuable in areas where patient data is otherwise scarce, such as in the research and development of treatments for rare diseases.

Expanded Genetic Testing

Genetic testing has entered both medical use and the public imagination through services like 23andMe, which offer analysis of various factors through at-home test kits that are mailed in for analysis. In medical settings, genetic testing offers unprecedented opportunities to evaluate patients’ risk of developing certain diseases and to aid providers in prescribing appropriate treatments.

Medicare expenditures on genetic testing increased 300 percent between calendar years 2016 and 2019, according to a data brief from the Department of Health and Human Services Office of Inspector General. Currently, the American Medical Association estimates that over 75,000 genetic tests are available.

The vast increase in available genetic test options has led to a host of concerns, including questions about regulation and ethics. A 2022 article by Akash Kumar and fellow researchers in Nature Medicine, for example, explores the medical and ethical implications of performing genetic testing on embryos conceived as part of the in-vitro fertilization (IVF) process.

Yet genetic testing provides benefits as well. In a 2022 article in JAMA Neurology, researchers Dianalee McKnight, Ana Morales, and Kathryn E. Hatchell examined the use of genetic testing in the clinical management of epilepsy. The authors concluded that “genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.”

Healthcare professional putting Band-Aid on child's arm after shot; expanded genetic testing concept

Leveraging Genetic Testing Data for Specialty Drug Research

Despite the growing popularity and availability of genetic testing, the medical community has still to make significant inroads in harnessing genetic testing data for widespread use in clinical research.

In a 2022 article in the Journal of Personalized Medicine, Kimberly S. Foss and fellow researchers searched publicly available data sources to review the availability of both genetic testing programs and the data they generated. Foss et al. concluded that “coordinated efforts are needed to take advantage of data collected about uptake, infrastructure, and intervention outcomes to inform future research, evaluation, and program development.”

Improvements in the collection, standardization, and management of genetic testing data are also necessary to give healthcare participants a clear set of rules and directions.

For example, payer coverage for genetic testing is still inconsistent, writes Carolyn Zele, a solution consulting advisor at Managed Markets Insight & Technology. Payers are interested in the value that testing provides in any given instance. They must also navigate FDA regulations, which call for genetic testing in some instances but are completely silent on genetic testing in others.

Leveraging genetic testing data gives pharmaceutical companies several opportunities. In addition to boosting research and development efforts, data can be used to:

  • Understand patients’ experience with rare disease therapies.
  • Clarify providers’ approaches to treatments.
  • Streamline distribution.
  • Educate and equip pharmacists.
  • Demonstrate value to payers.

Expanded genetic testing currently generates a wealth of new data, which may be of particular value to rare disease research. Gathering, standardizing, and analyzing this data, however, poses a number of challenges. Choosing a comprehensive platform for collecting data with competitive insights enabled and optimizing communication can help rare disease researchers identify and access the necessary genetic data to enhance their research and development efforts.

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