Most health insurance plans will cover the cost of genetic testing when recommended by a physician. However, all coverage and reimbursement is subject to Medicare, Medicaid, and third-party payer benefit plans. Therefore, ASCO strongly encourages you to verify with the patient’s insurer to understand what type of services will be covered.  

Common CPT Billing Codes for Genetic Risk Assessment

CPT* codes and descriptions are subject to change on an annual basis. Be sure to check the AMA CPT Professional Edition on an annual basis for any updates or edits to these codes.

  • 99401    Preventive medicine counseling/risk factor reduction, 15 minutes
  • 99402    Preventive medicine counseling/risk factor reduction, 30 minutes
  • 99403    Preventive medicine counseling/risk factor reduction, 45 minutes
  • 99404    Preventive medicine counseling/risk factor reduction, 60 minutes
     
  • 81201    APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP], attenuated (FAP) gene analysis; full gene sequence
  • 81202    APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP], attenuated (FAP) gene analysis; known familial variants,
  • 81203   APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP], attenuated (FAP) gene analysis; duplication/deletion variants
     
  • 81211    BRCA1, BRCA2 (breast cancer 1 and 2) (eg, hereditary breast and ovarian cancer gene analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (ie, exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb)
  • 81212    185delAG, 5385insC, 6174deIT variants
  • 81213    Uncommon duplication/deletion variants
  • 81214    BRCA1 (breast cancer 1) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (ie, exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb)
  • 81215    Known familial variant
  • 81216    BRCA 2 (breast cancer 2) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis
  • 81217    Known familial variant
     
  • 81292   MLH1 (mutL homolog1, colon cancer, nonpolyposis type 2)(e.g. hereditary non-polyposis colorectal cancer, Lynch Syndrome) gene analysis; full sequence
  • 81288   Promoter methylation analysis
  • 81293   Known familial variants
  • 81294   Duplication/deletion variants
  • 81295   MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1)(e.g. hereditary non-polyposis colorectal cancer, Lynch Syndrome) gene analysis; full sequence analysis
  • 81296   Known familial variants
  • 81297   Duplication/deletion variants
  • 81298   MSH6 (mutS homolog 6 [E.coli]) (e.g. hereditary non-polyposis colorectal cancer, Lynch Syndrome) gene analysis; full sequence
  • 81299   Known familial variants
  • 81300   Duplication/deletion variants
  • 81301   Microsatellite instability analysis (.e. hereditary non-polyposis colorectal cancer, Lynch Syndrome) of markers for mismatch repair deficiency (e.g. BAT25, BAT26) includes comparison of neoplastic and normal tissue, if performed
  • 81317   PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (e.g. hereditary non-polyposis colorectal cancer, Lynch Syndrome) gene anaylysis; full sequence analysis
  • 81318   Known familial variants
  • 81319   Duplication/deletion variants
     
  • 81312   PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis
  • 81322   PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant
  • 81323   PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome)  gene analysis; duplication/deletion variant

*CPT © copyright 2015 American Medical Association. All rights Reserved. CPT is a registered trademark of the American Medical Association.  

Genetic Testing Coverage Policies of Major Carriers 

Genetic Testing Insurance Coverage Trends: A review of publicly available policies from the largest US payers (2013)

Aetna

Blue Cross Blue Shield (Coverage varies by state)

Cigna: Genetic Testing and Counseling Program

United Healthcare

Medicare

Medicare is prevented from covering preventive services unless explicitly authorized by Congress. Tests performed in the absence of signs, symptoms, complaints, or personal histories of disease or injury are not covered unless explicitly authorized by statute; a family history of disease does not meet the personal history criterion. 

Medicare coverage for genetic counseling is also limited by the program’s screening exclusion. Therefore, Medicare does not currently provide coverage for genetic testing in individuals without a personal history of cancer. However, Medicare will cover genetic testing for BRCA1 and BRCA2 under the following conditions:

  1. An individual with a personal history of breast cancer and one or more of the following:
  • Diagnosis before the age of 45 with or without a family history
  • Diagnosis before the age of 50 or two breast primaries, with at least one close blood relative with breast cancer diagnosed before 50, or at least one close blood relative with ovarian cancer/fallopian tube/primary peritoneal cancer
  • Two breast primaries when first breast cancer diagnosis occurred prior to age 50
  • Diagnosis at any age, with at least two close blood relatives with breast and/or epithelial ovarian/fallopian tube/primary peritoneal cancer
  • A close male blood relative with breast cancer
  • A personal history of epithelial ovarian/fallopian tube/primary peritoneal cancer
  • Of an ethnicity associated with higher mutation frequency (e.g., Ashkenazi Jewish); no additional family history required
  • A close relative with a known BRCA1 or BRCA2 gene mutation
     

2. An individual with a personal history of epithelial ovarian/fallopian tube/primary peritoneal cancer
3. A male with a personal history of male breast cancer

Medicare also provides coverage for Lynch syndrome (hereditary nonpolyposis colorectal cancer (HNPCC)) for those who meet any of the following criteria:

  1. Individuals with a first-degree relative with known mutation
  2. Individuals meeting either the revised Bethesda guidelines or Amsterdam Criteria (see table below)
  3. Individuals diagnosed with endometrial cancer under age 50. (Endometrial cancer for those under 50 years is not included in the revised Bethesda guidelines, however, per the NCCN, recent evidence suggests these individuals should be evaluated for Lynch syndrome)

Amsterdam II criteria

Revised Bethesda Guidelines

At least three relatives must have a cancer associated with HNPCC (colorectal, cancer of uterus, small bowel, ureter and renal pelvis); and ALL of the following criteria should be present:

  • One must be a first-degree relative of the other two
  • At least two successive generations must be affected
  • At least one of the relatives with cancer associated with hereditary nonpolyposis colorectal cancer should be diagnosed before the age 50 years
  • Familial adenomatous polyposis (FAP) should be excluded in the colorectal case(s) (if any)
  • Tumors should be verified whenever possible

Individual must meet ONE of the following criteria:

  • Colorectal cancer diagnosed under the age of 50 years of age; or
  • Presence of synchronous or metachronous Lynch syndrome (LS) associated tumors*** regardless of age; or
  • Colorectal cancer with the MSI-H histology (presence of tumor infiltrating lymphocytes, Crohn's-like lymphocytic reaction, mucinous/signet ring differentiation, or medullary growth pattern) diagnosed in a patient who is less than 60 years of age; or
  • Colorectal cancer diagnosed with one or more first-degree relatives with an LS- related cancer ***, with one of the cancers being diagnosed under age 50 years; or
  • Colorectal cancer diagnosed in two or more first or second-degree relatives with LS-related tumor, regardless of age.

* MSH6 sequence analysis is considered medically necessary for persons meeting the above criteria for genetic testing for HNPCC, and who do not have mutations in either the MLH1 or MSH2 genes; or single site MSH6 testing for testing family members of persons with HNPCC with an identified MSH6 gene mutation. PMS2 mutation testing is only necessary if no mutation is found in the other genes.
**Microsatellite instability (MSI) testing or immunohistochemical (IHC) analysis of the tumor is considered medically necessary as a preliminary testing strategy in individuals with colorectal cancer who meet the revised Bethesda guidelines in an effort to identify those individuals who should proceed with HNPCC mutation analysis.
***Lynch syndrome tumors/cancer include colorectal, endometrial, gastric, ovarian, pancreas, ureter and renal pelvis, biliary tract, brain (usually glioblastoma as seen in Turcot Syndrome), and small intestinal cancers, as well as sebaceous gland adenomas and keratoacanthomas in Muir-Torre syndrome.

Medicaid

Several state Medicaid programs offer coverage for BRCA testing, however this coverage varies by state. Further, the Essential Health Benefits Package of the Affordable Care Act (ACA) includes a provision for coverage of genetic counseling related to hereditary breast cancer because it has a USPSTF B rating, however the law is silent about covering the cost of the genetic testing for a BRCA mutation. It is important to note that this provision applies only to those Medicaid patients who are newly eligible under the ACA Medicaid expansion and does not apply to current Medicaid beneficiaries. The ACA does provide an incentive (1% increase in Federal Medical Assistance Percentage) for states that provide coverage for their current Medicaid recipients. ASCO recommends consulting your state Medicaid guidelines to understand what genetic testing and counseling services may be covered for your patients. To find out what your state Medicaid program may cover, visit the State Medicaid & CHIP Profiles page.

Genetics Provisions in the Affordable Care Act 

With the passage of the Affordable Care Act (ACA), beginning in 2014, health insurance plans cannot refuse coverage to an individual nor charge more for coverage because of an individual’s pre-existing health condition. Further, once an individual has insurance coverage, the coverage cannot refuse to cover treatment due to a pre-existing condition; this is true even if a patient has been turned down or refused coverage in the past. 

One exception: Grandfathered individual health insurance plans. The only exception is for grandfathered individual health insurance plans--the kind purchased by an individual and not provided through an employer. These policies do not have to cover preexisting conditions. However, an individual can now switch to a Marketplace plan during open enrollment and immediately get coverage for the preexisting conditions.

The ACA established a set of “Essential Health Benefits,” or core services that must be offered by individual and group insurers with no co-pay. Specifically for women who are at an increased risk, plans are required to cover, without copay, counseling and genetic testing for BRCA mutations. However, coverage of genetic counseling and testing for other cancer syndromes is not required under the ACA, leaving this provision up to individual health plans to determine if and how they will cover these services. Further, the law removes the ability of insurance plans to have lifetime coverage limits.