Genetic testing for cancer cost: germline vs tumor testing

Genetic testing for cancer falls into two categories with different cost structures: germline testing (to find inherited cancer-risk mutations) and tumor or somatic testing (to guide treatment decisions for an existing cancer). Both categories are typically covered by insurance when clinical criteria are met, and both have manufacturer financial assistance programs that cap out-of-pocket cost for underinsured patients.

Germline testing: inherited cancer risk

Germline tests look at the DNA in a person’s normal cells to identify inherited mutations in genes associated with cancer risk. Common examples include BRCA1 and BRCA2 (breast, ovarian, prostate, pancreatic cancer risk), Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2 for colorectal and other cancers), and TP53 (Li-Fraumeni syndrome).

What most patients pay

Major germline panel providers report that most insured patients pay nothing out-of-pocket:

• Myriad Genetics (MyRisk, BRACAnalysis). Majority of insured patients pay $0. Maximum out-of-pocket for underinsured patients under Myriad’s financial assistance program is $295.
• Invitae (now offered through Labcorp). Coverage is broad for clinically indicated testing. Self-pay options exist through the Invitae site.
• Ambry Genetics. Clinical criteria coverage is broad; financial assistance available.
• Color Health Extended Cancer Panel. Direct-to-consumer option at approximately $249 self-pay with optional genetic counseling; no physician order required.

ACA preventive-care coverage

Under the Affordable Care Act, USPSTF-recommended BRCA-related risk assessment and testing is a covered preventive service for eligible women, with no patient cost-sharing. See the BRCA test cost guide for the specific eligibility rules.

Medicare coverage

Medicare covers germline BRCA testing for beneficiaries with a personal history of cancer consistent with a BRCA-related syndrome. Medicare does not cover preventive germline testing for beneficiaries who have never had cancer.

Tumor testing: somatic molecular profiling

Tumor (somatic) testing looks at the DNA in cancer cells to identify mutations specific to that tumor. Results guide targeted therapy decisions and, in some cases, determine eligibility for clinical trials. Common somatic tests include Foundation One CDx, Guardant360, Tempus xT, Caris MI Profile, and Oncotype DX.

What most patients pay

• Foundation One CDx. List price is $3,500. Approximately 87 percent of patients pay $0 via insurance. FoundationAccess caps qualifying underinsured patients at no more than $100 out-of-pocket.
• Guardant360 CDx. Broad Medicare coverage (ADLT status) and commercial coverage for FDA-approved indications. Cash-pay rate around $5,000 for patients without coverage.
• Tempus xT. Covered by Medicare and many commercial plans for FDA-approved indications; self-pay pricing available through Tempus.
• Caris MI Profile. Similar coverage picture to Tempus; self-pay pricing via Caris.

Medicare coverage

Medicare covers next-generation sequencing tumor testing for patients with advanced cancer under CMS National Coverage Determination criteria, including Foundation One CDx and Guardant360 CDx for the FDA-approved indications. Qualifying Original Medicare beneficiaries often pay $0.

Tissue-of-origin and recurrence-prediction tests

Some tests predict recurrence risk or response to specific therapies in early-stage cancer:

• Oncotype DX Breast Recurrence Score. For hormone receptor-positive, HER2-negative early-stage breast cancer. Widely covered by Medicare and commercial insurers when clinically appropriate.
• MammaPrint. 70-gene signature for early-stage breast cancer. Covered by many insurers for appropriate indications.
• Cologuard. Stool-DNA screening test for colorectal cancer. Covered by Medicare and most commercial insurers as a screening test for average-risk patients.

Coverage is well-established for these tests in their indicated clinical scenarios. Patients with commercial insurance rarely pay significant out-of-pocket for clinically appropriate testing. Uninsured patients should ask the manufacturer about financial assistance programs.

How to order and what to expect

1. Germline testing should follow genetic counseling. Counselors take your personal and family history, determine which panel is appropriate, and help you understand results. The National Society of Genetic Counselors maintains a directory of counselors, many offering telemedicine.
2. Tumor testing is ordered by your oncologist. It is performed on a tissue biopsy or, in some cases, a blood sample (liquid biopsy).
3. The lab verifies your insurance before processing and will notify you of any out-of-pocket cost.
4. Results return in one to four weeks depending on test and complexity.

If you cannot afford testing

• Use manufacturer financial assistance programs (Myriad Promise, Foundation One FoundationAccess, Guardant financial assistance).
• Ask about research-based testing at academic medical centers.
• Consider direct-to-consumer cash-pay options for germline screening (Color, 23andMe with caveats).
• Apply for disease-foundation support through programs listed in the financial assistance guide.

Next

• BRCA test cost: focused deep dive on BRCA1/2 testing
• Genetic testing for hereditary cancer: clinical criteria and the testing process
• Cancer biomarkers explained: how germline and somatic testing differ
• Lynparza (olaparib) cost: a PARP inhibitor requiring BRCA or HRD testing for use