Description

Preimplantation genetic testing (PGT) (formerly known as preimplantation genetic diagnosis [PGD]) is used as an adjunct to assisted reproductive technology (ART). Testing is performed on embryos following in vitro fertilization (IVF) to detect genetic disorders prior to implantation into the uterus. Cells are removed from embryos under microscopic guidance, analyzed for the presence of genetic disorders and only the unaffected embryos are implanted into the uterus.

Preimplantation genetic testing includes four categories:

• Preimplantation genetic testing for aneuploidy (PGT-A) (formerly known as preimplantation genetic screening [PGS]) is used to screen for aneuploidy in parents who have no known chromosomal anomaly, variant or other genetic abnormality. PGT-A has been proposed for individuals at risk for having an increased occurrence of aneuploid embryos, such as women of advanced maternal age and those with a history of repeated IVF failure or recurrent early pregnancy loss (a nonviable, intrauterine pregnancy with either an empty gestational sac or a gestational sac containing an embryo or fetus without fetal heart activity within the first 12 6/7 weeks of gestation³). (Refer to Coverage Limitations section)
• Preimplantation genetic testing for monogenic disorders (PGT-M) is used to identify known single-gene disorders (eg, autosomal recessive, autosomal dominant, X-linked) carried by one or both biological parents. These heritable disorders include, but may not be limited to: cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), hemophilia, sickle cell disease and spinal muscular atrophy (SMA).
• PGT-M may also be used to select embryos for transfer that have specific characteristics, such as a particular gender or compatible human leukocyte antigen complex type. (Refer to Coverage Limitations section)
• Preimplantation genetic testing for polygenic disease risk (PGT-P) has been proposed to aid in embryo selection by using polygenic scoring to estimate an embryo’s risk of developing an adult-onset, multifactorial condition (eg, cancer, coronary disease, diabetes). (Refer to Coverage Limitations section)
• Preimplantation genetic testing for structural rearrangements (PGT-SR) is used to detect structural chromosomal rearrangements. Balanced rearrangements change the chromosomal gene order but do not remove or duplicate any of the DNA of the chromosomes (eg, inversion or reciprocal translocation). Carriers of balanced chromosome rearrangements can be healthy and unaware of their carrier status until they try to have children and are at risk of producing embryos with the incorrect amount of chromosomal material, which usually leads to an unsuccessful pregnancy. Unbalanced rearrangements (eg, deletions and duplications) result in a partial trisomy or monosomy and are a frequent cause of congenital abnormalities or developmental delays.¹³

For information regarding prenatal genetic diagnostic testing, please refer to Prenatal Invasive Diagnostic Genetic Testing Medical Coverage Policy.

This medical coverage policy addresses the use of preimplantation testing performed as part of an assisted reproductive procedure. For information regarding Preimplantation Genetic Testing Effective Date: 11/02/2023 Revision Date: 11/02/2023 Review Date: 11/02/2023 Policy Number: HUM-0488-037 Page: 3 of 12 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version.

Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

For information regarding diagnostic tests and treatment modalities for female and male infertility, please refer to Infertility Evaluation and Treatment Medical Coverage Policy.

For information regarding recurrent pregnancy loss, please refer to Recurrent Pregnancy Loss Medical Coverage Policy.

For information regarding genetic testing for the following, please refer to Genetic Testing Medical Coverage Policy:

• DNA banking or preservation
• General population screening
• Individual 17 years of age or younger for adult-onset conditions
• Interpretation and reporting for molecular pathology procedure
• Polygenic risk score (PRS) and single nucleotide polymorphisms (SNPs)
• Repeat germline or somatic genetic testing
• Retrieved archival tissue

Humana recognizes that the field of genetic testing is rapidly changing and that other tests may become available.

Coverage Determination

Any state mandates for genetic testing take precedence over this medical coverage policy.

Genetic testing may be excluded by certificate. Please consult the member’s individual certificate regarding Plan coverage.

Apply General Criteria for Genetic and Pharmacogenomics Tests when disease- or gene-specific criteria are not available on a medical coverage policy. For information regarding General Criteria for Genetic and Pharmacogenomics Tests, please refer to Genetic Testing Medical Coverage Policy.

PGT-M Humana members may be eligible under the Plan for PGT-M when the following criteria are met:

• Pre- and post-test genetic counseling; AND
• Sex selection for an X-linked condition when at least one parent is a known carrier; OR
• To diagnose a specific, detectable single-gene variant(s) related to an autosomal dominant condition when at least one parent is a known carrier; OR
• To diagnose specific, detectable single-gene variant(s) related to an autosomal recessive condition when both parents are known carriers; OR
• To diagnose a specific, detectable single-gene variant(s) related to an X-linked condition when the female parent is a known carrier

PGT-SR Humana members may be eligible under the Plan for PGT-SR when the following criteria are met:

• Pre- and post-test genetic counseling; AND
• Male parent is a carrier of a sex chromosome abnormality; OR
• Testing for unbalanced chromosome rearrangements when at least one parent is a known carrier of a structural chromosomal rearrangement

Coverage Limitations

Humana members may NOT be eligible under the Plan for preimplantation genetic testing for any indications other than those listed above, including sex selection for nonmedical purposes. This is considered not medically necessary as defined in the member’s individual certificate. Please refer to the member’s individual certificate for the specific definition.

Humana members may NOT be eligible under the Plan for PGT-M for any indications other than those listed above including, but may not be limited to:

• CFTR deletion/duplication analysis for CF (81222)

Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

• Human leukocyte antigen (HLA) typing of an embryo as a potential donor for future stem cell, tissue or organ transplant
• PGT-M with concurrent analysis for PGT-A (eg, Spectrum PGT [0396U])

These are considered experimental/investigational as they are not identified as widely used and generally accepted for any other proposed use as reported in nationally recognized peer-reviewed medical literature published in the English language.

Humana members may NOT be eligible under the Plan for PGT-A (eg, 0254U) or PGT-P for any indication including the following:

• Recurrent implantation failures; OR
• Recurrent pregnancy loss; OR
• Solely because of maternal age; OR
• To improve in vitro fertilization success rates

This is considered experimental/investigational as it is not identified as widely used and generally accepted for the proposed use as reported in nationally recognized peer-reviewed medical literature published in the English language.

Additional information about inherited genetic conditions and preimplantation genetic testing may be found from the following websites:

• Background
  American Society for Reproductive Medicine
• National Library of Medicine

Medical Alternatives

Physician consultation is advised to make an informed decision based on an individual's health needs.

Humana may offer a disease management program for this condition. The member may call the number on his/her identification card to ask about our programs to help manage his/her care.

Preimplantation Genetic Testing Effective Date: 11/02/2023 Revision Date: 11/02/2023 Review Date: 11/02/2023 Policy Number: HUM-0488-037 Page: 6 of 12 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

Any CPT, HCPCS or ICD codes listed on this medical coverage policy are for informational purposes only. Do not rely on the accuracy and inclusion of specific codes. Inclusion of a code does not guarantee coverage and or reimbursement for a service or procedure.