Genetic Testing Form

1 Genetic Testing- Medical Policy New Policy Effective: February 1, 2026 Policy Number: UM1066POL Approval Date: 11/11/2025 Line(s) of Business: Commercial
Medicare Advantage
Medicaid (BeHealthy) Description The purpose of this medical policy is to provide a framework for evaluation of the utility of certain genetic tests. It serves to provide guidelines that can be applied to a wide range of genetics tests. This fabric is applicable only if there is no separate medical necessity criteria and evidence review. If a separate criterion exist, then the criteria supersede the guidelines herein. This framework does not include cytogenetic testing (karyotyping), biochemical testing, or molecular testing for infectious diseases. It also does not address reproductive genetic testing. There are separate medical policies for genetic testing in the reproductive setting, addressing, e.g., carrier testing for genetic diseases, invasive prenatal (fetal) diagnostic testing, and preimplantation genetic testing. The following categories of genetic testing are addressed in this policy: Testing with diagnostic, therapeutic or prognostic intent of; an affected (symptomatic) individual’s germline to benefit the individual; testing cancer cells of an affected individual to benefit the individual and testing an asymptomatic individual with risk factors to determine future risk of disease and testing of an affected individual’s germline to benefit family members. Type of Genetic Tests A. Testing of an affected (symptomatic) individual’s germline to benefit the individual (excluding reproductive testing)

1. Diagnostic: To confirm or exclude genetic or heritable variants in a symptomatic person. This refers to a molecular diagnosis supported by the presence of a known pathogenic variant. For genetic testing, a symptomatic person is defined as an individual with a clinical phenotype correlated with a known pathogenic variant.
2. Prognostic: To determine or refine estimates of disease natural history or recurrence in patients already diagnosed with disease in order to predict natural disease course (e.g., aggressiveness, recurrence, risk of death). This type of testing may use gene expression of affected tissue to predict the course of disease (e.g., testing breast cancer tissue with Oncotype DX).

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3. Therapeutic: To determine that a particular therapeutic intervention is effective (or ineffective) for an individual. To determine the probability of favorable or adverse response to medications. To detect genetic variants that alter risk of treatment response, adverse events, drug metabolism, drug effectiveness, etc. (e.g., cytochrome P450 testing). To detect genetic variants that adversely affect response to exposures in the environment that are ordinarily tolerated (e.g., G6PD deficiency, genetic disorders of immune function, aminoacidopathies).

   B. Testing cancer cells of an affected individual to benefit the individual

4. Diagnostic: To determine the origin of a cancer or to determine a clinically relevant subgroup into which a cancer is classified.

5. Prognostic: To determine the risk of progression, recurrence, or mortality for a cancer that is already diagnosed.

6. Therapeutic: To determine the likelihood that a patient will respond to a targeted cancer therapy that is based on the presence or absence of a specific variant.

   C. Testing an asymptomatic individual to determine future risk of disease.
   To detect genetic variants associated with disorders that appear after birth, usually later in life. Such testing is intended for individuals with a family history of a genetic disorder, but who themselves have no features of the disorder, at the time of testing, in order to determine their risk for developing the disorder.

   D. Testing of an affected individual’s germline to benefit family member(s).
   To focus and direct family testing of asymptomatic relatives, by testing an individual with a known disease but in whom the presence or absence of a pathogenic variant has not been determined.

   The safety and effectiveness of genetic testing and counseling services have been established. They may be considered useful tools only if the testing results are expected to establish or verify a diagnosis, initiate a treatment plan and/or alter the patient’s health care management.

   Line of Business

   Commercial:

   • Some genetic tests require prior approval through EviCore.

   • For all other genetic tests refer to criteria under the Policy section in this medical policy.

   Medicaid – BeHealthy:

   • Some genetic tests require prior approval through EviCore. EviCore follows its Medicaid: Hierarchy for Applying Coverage Decisions for Laboratory Testing for Health New England Managed Medicaid Members in the State of Massachusetts policy.

   • Health New England follows MassHealth Guidelines for Medical Necessity Determination for Gene Expression Profiling Tests for Breast Cancer. MassHealth Guidelines for Medical Necessity Determination for Gene Expression Profiling Tests for Breast Cancer | Mass.gov

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• Health New England follows MassHealth Guidelines for Medical Necessity Determination for Genetic Testing for Hereditary Breast and/or Ovarian Cancer. MassHealth Guidelines for Medical Necessity Determination for Genetic Testing for Hereditary Breast and/or Ovarian Cancer | Mass.gov

• For all other genetic tests refer to criteria under Policy section in this medical policy.

Medicare:

• Some genetic tests require prior approval through EviCore. EviCore follows its Medicare: Hierarchy for Applying Coverage Decisions for Laboratory Testing policy.

• HNE follows applicable National Coverage Determinations (NCD) and Local Coverage Determinations (LCD) for genetic testing.

• For all other genetic tests refer to criteria under the Policy section in this medical policy.

Policy

• This policy applies only if the genetic testing is not managed by EviCore *

  I. Genetic testing is considered MEDICALLY NECESSARY for a genetic or heritable disorder when the following are met:

  A. For ALL genetic testing, the condition being tested for must have either:

  1. Reduced life expectancy; OR
  2. At least moderate-to-severe morbidity; AND

  B. For the specific categories of testing, the following criteria MUST be met:

  1. Testing of an affected (symptomatic) individual’s germline to benefit the individual (excluding reproductive testing, which is addressed in HNE “Preimplantation Genetic Testing Medical Policy”):

  a. Diagnostic: i. An association between the marker and the disorder has been established; AND
  ii. Symptoms of the disease are present; AND
  iii. A definitive diagnosis cannot be made based on history, physical examination, pedigree analysis, and standard diagnostic studies/tests; AND
  iv. The clinical utility of identifying the variant has been established and:
  • Leads to changes in clinical management of the condition that improve outcomes; OR • Eliminates the need for further clinical workup or invasive testing; OR
  • Leads to discontinuation of interventions that are unnecessary and/or ineffective.

  b. Prognostic:
  i. An association between the marker and the natural history of the disease has been established; AND
  ii. Clinical utility of identifying the variant has been established and:
  • Provides incremental prognostic information above that of standard testing; AND • Reclassifies patients into clinically relevant prognostic categories for which there are different treatment strategies; AND • Reclassification leads to changes in management that improve outcomes.

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                        c. Therapeutic:

i. Genetic testing identifies variants of a phenotype/metabolic state that relate to different pharmacokinetics, drug efficacy, or adverse drug reactions; AND
ii. Clinical utility of identifying the variant has been established and: • Leads to initiation of effective medication(s); OR • Leads to discontinuation of medications that are ineffective or harmful, OR • Leads to clinical meaningful change in dosing of medication that is likely to improve outcomes.

2. Testing cancer cells of an affected individual to benefit the individual:

   a. Diagnostic:
   i. Genetic testing can establish the cell origin of a cancer when the origin is uncertain following standard workup; AND
   ii. Clinical utility of identifying the variant has been established and:
   • Leads to start of effective treatment; OR • Leads to discontinuing of ineffective or harmful treatment.

    b. Prognostic:

   i. An association between the marker and the natural history of the disease has been established; AND
   ii. Clinical utility of identifying the variant has been established: • Provides incremental prognostic information above that of standard testing; AND • Reclassifies patients into clinically relevant prognostic categories for which there are different treatment strategies; AND • Reclassification leads to changes in management that improve outcomes.

   c. Therapeutic
   i. An association between a variant and treatment response to a particular drug has been established; AND
   ii. Clinical utility has been established and: • The patient is a candidate for targeted drug therapy associated with a specific variant; AND
   • There is a clinically meaningful improvement in outcomes when targeted therapy is given for the condition.

3. Testing an asymptomatic individual with a family history of a genetic condition to determine future risk of disease when:

   i. An association between the marker and future disorder has been established; AND
   ii. Clinical utility has been established and:
   • There is a presymptomatic phase for this disorder and interventions or surveillance are available; AND • Interventions in the presymptomatic phase are likely to improve outcomes by:
   a. Preventing or delaying onset of disease; OR
   b. Detecting disease at an earlier stage during which treatment is more effective; OR
   c. Discontinuation of ineffective or unnecessary interventions.

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II. Genetic testing for indications that do not meet the above criteria AND those listed below are considered NOT MEDICALLY NECESSARY:

1. Testing performed entirely for non-medical (e.g., social) reasons; OR,
2. Testing is not expected to provide a definitive diagnosis that would obviate the need for further testing; OR
3. Testing is performed primarily for the convenience of the patient, physician, or other health care provider; OR

4. Testing would result in outcomes that are equivalent to outcomes using an alternative strategy, and the genetic test is more costly.

   III. Genetic testing for an individual to benefit a family member, while there being no benefit to the individual being tested as defined in the above criteria, is considered NOT MEDICALLY NECESSARY.

   IV. Genetic testing that is not considered standard of care (e.g. when the clinical diagnosis can be made without the use of a genetic test) is considered EXPERIMENTAL and INVESTIGATIONAL.

   Policy Guidelines and Definitions

   Definitions:

   Genetic Testing: Involves the analysis of chromosomes, DNA, RNA, genes, or gene products to detect inherited (germline) or non-inherited (somatic) genetic variants related to disease or health.

   Carrier Testing: A carrier of a genetic disorder has 1 abnormal allele for a disorder. When associated with an autosomal recessive or X-linked disorder, carriers of the causative variant are typically unaffected. When associated with an autosomal dominant disorder, the person has 1 normal copy of the gene and 1 mutated copy of the gene; such a person may be affected with the disorder, may be unaffected but at high risk of developing the disease later in life, or may remain unaffected because of the sex-limited nature of the disease. Carrier testing may be offered to people: (a) who have family members with a genetic condition; (b) who have family members who are identified carriers; and (c) who are members of ethnic or racial groups known to have a higher carrier rate for a particular condition.

   Germline Variants: Are present in the DNA of every cell of the body, from the moment of conception. They include cells in the gonads (testes or ova) and could, therefore, be passed on to offspring.

   Somatic Variants: Occur with the passage of time and are restricted to a specific cell or cells derived from it. If these variants are limited to cells that are not in the gonads, they will not be passed on to offspring.

   Pharmacogenomics: Is the study of how a person’s genetic makeup affects his or her body’s response to drugs.

   Coding Guidance

   A list of genetic tests managed by EviCore are found here: EviCore
   A list of genetic tests managed by Health New England that are not covered can be found here: https://healthnewengland.org/Providers/Resources Refer to the Medical Necessity and Experimental and Investigational medical policy for further information.

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References

• MassHealth Guidelines for Medical Necessity Determination for Gene Expression Profiling Tests for Breast Cancer.
MassHealth Guidelines for Medical Necessity Determination for Gene Expression Profiling Tests for Breast Cancer | Mass.gov

• MassHealth Guidelines for Medical Necessity Determination for Genetic Testing for Hereditary Breast and/or Ovarian Cancer.
MassHealth Guidelines for Medical Necessity Determination for Genetic Testing for Hereditary Breast and/or Ovarian Cancer | Mass.gov

• ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. Jun 2015;17(6):505-507. PMID

25764213. • Teutsch SM, Bradley LA, Palomaki GE, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med. Jan 2009;11(1):3-14. PMID 18813139.

          Policy Implementation

          Approved by the Medical and Pharmacy Policy Committee

          Kate McIntosh MD MBA

          Chief Medical Officer

          Saad Usmani MD MBA

          Medical Director

          Date Update 9/2025 Initial policy date

          Medical Criteria Disclaimer

          Property of Health New England. All rights reserved. The treating physician or primary care provider must submit to Health New England the clinical evidence that the patient meets the criteria for the treatment, testing or surgical procedure. Without this documentation and information, Health New England will not be able to properly review the request for prior authorization. The clinical review criteria reflect how Health New England determines whether certain services or supplies are medically necessary. Health New England established the clinical review criteria based upon a review of currently available clinical information (including clinical outcome studies in the peer-reviewed published medical literature, regulatory status of the technology, evidence-based guidelines of

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public health and health research agencies, evidence-based guidelines and positions of leading national health professional organizations, views of physicians practicing in relevant clinical areas, and other relevant factors).
Health New England expressly reserves the right to revise these conclusions as clinical information changes, and welcomes further relevant information. Each benefit program defines which services are covered. The conclusion that a particular service or supply is medically necessary does not constitute a representation or warranty that this service or supply is covered and/or paid for by Health New England, as some programs exclude coverage for services or supplies that Health New England considers medically necessary. If there is a discrepancy between this guideline and a member's benefits program, the benefits program will govern. In addition, coverage may be mandated by applicable legal requirements of a state, the Federal Government or the Centers for Medicare & Medicaid Services (CMS) for Medicare and Medicaid members. All coding and web site links are accurate at time of publication. Health New England has adopted the herein policy in providing management, administrative and other services to its Health Plan.