Genetic testing can change the course of a patient’s care, but accessing the right test is not always straightforward.

Behind the scenes, insurance coverage decisions, documentation requirements, prior authorization, denials, appeals, and cost concerns can all influence whether a patient receives timely answers.

In this episode of DNA Today, we launch a new special series sponsored by Revvity in this episode exploring the health economics of genetic testing and the real-world systems that shape access to genomic medicine.

Host Kira Dineen is joined by Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity, and Mackenzie Mosera Derby, a pediatric genetic counselor at UW Health. Together, they examine genetic testing access from both the diagnostic laboratory and clinical perspectives exploring why insurance coverage remains so inconsistent, what goes into a prior authorization, why genetic tests are commonly denied, and how clinicians can approach appeals and peer-to-peer reviews.

In This Episode, We Discuss

The transition from stacked laboratory procedure codes to codes for genes, panels, exomes, and genomes
How and why insurance coverage varies among payers and individual health plans
Coverage differences across hereditary cancer testing, exome sequencing, genome sequencing, reproductive testing, and population screening
How rapid and ultra-rapid genome sequencing may be covered differently from standard genome sequencing
The limited coverage available for preventive and population-based genomic testing
The coordination required among patients, clinicians, laboratories, and insurance companies
Why laboratories offering tests with similar names may differ in technology, interpretation, turnaround time, and clinical support
What documentation is typically required for a genetic testing prior authorization
How clinicians demonstrate medical necessity and clinical utility
Why professional guidelines and peer-reviewed literature can strengthen an authorization request
The role laboratories play in benefits investigations, billing assistance, financial support, and prior authorization
Why laboratories may perform testing without knowing whether they will ultimately be reimbursed
Common reasons insurance companies deny genetic testing
Why “this test will not change clinical management” can be an overly narrow interpretation of genetic testing’s value
How genetic results may inform surveillance, reproductive decisions, recurrence risks, family members, research eligibility, and patient support
The role of hospital test utilization committees
Why genetic counselors and geneticists should be represented on utilization review teams
How letters of medical necessity (LOMN) and peer-to-peer reviews may support an appeal
Why genetic counselors may be prevented from conducting peer-to-peer reviews, even when they were the ordering provider
The time clinicians spend educating insurance representatives about genetics
Why payer policies frequently lag behind genomic technology and professional recommendations
The importance of detailed clinical documentation and accurate diagnostic coding
The difference between prior authorization, insurance coverage, and guaranteed payment
How self-pay pricing and misleading “no-cost” language can create confusion
The potential devaluation of genetic testing and genetic counseling services through complementary or low cost self-pay options
Why improving access requires collaboration among patients, clinicians, laboratories, professional organizations, healthcare systems, and payers

About The Guests

Madhuri Hegde, PhD, FACMG, is the Senior Vice President and Chief Scientific Officer at Revvity, where she leads the company’s scientific strategy and oversees Revvity Omics’ global network of laboratories.

Dr. Hegde is a medical geneticist and an American Board of Medical Genetics and Genomics-certified diplomate in clinical molecular genetics. Her work focuses on advancing genomic technologies and expanding access to diagnostic testing for patients with rare and inherited conditions. Before joining industry, Dr. Hegde served as Executive Director of the Emory Genetics Laboratory and as a professor of human genetics and pediatrics at Emory University.

She has previously joined DNA Today to discuss whole-genome sequencing, Duchenne muscular dystrophy, and rapid genome sequencing in the neonatal intensive care unit.

Mackenzie Mosera Derby, MS, CGC, is a pediatric genetic counselor at UW Health and the University of Wisconsin–Madison Division of Genetics and Metabolism.

Her work includes pediatric and inpatient genetics, genetic testing utilization, clinical education, and improving the systems through which patients access genetic services.

Mackenzie also teaches genetic counseling students and brings experience examining how documentation, insurance authorization, utilization review, and multidisciplinary collaboration affect patient care.

Resources

American College of Medical Genetics (ACMG) Evidence-Based Clinical Practice Guidelines (EBGs)
National Society of Genetic Counselors (NSGC) Billing and Reimbursement Resources (including CPT codes)
American Medical Association (AMA) creation of Current Procedural Terminology (CPT®) codes
Centers for Medicare & Medicaid Services (CMS), which is the U.S. federal agency that provides health coverage to more than 160 million through Medicare, Medicaid, the Children's Health Insurance Program, and the Health Insurance Marketplace.
Health literacy paper referenced by Mackenzie sharing that only 12% of U.S. adults had “proficient” health literacy. Data was collected in 2003 and the paper was published in 2006.
Revvity website

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