Appeal type: Medical necessity
Decision: Overturned

Diagnosis:  Heterozygous carrier for tyrosinemia type I.
Issue under review:  In-vitro Fertilization (IVF) Cycle (Pre-Service).
The insurer denied the In-vitro Fertilization (IVF) Cycle (Pre-Service).  The denial is overturned. 

Yes, the proposed treatment, IVF cycle, is medically necessary.

The patient is a woman.  She and her partner are heterozygous carriers for tyrosinemia type I.  The patient consulted a reproductive endocrinologist for preimplantation genetic testing for monogenic disorders (PGT-M).  In vitro fertilization (IVF) with PGT-M was recommended.

The medical records and medical literature were thoroughly reviewed.  PGT-M for adult-onset conditions has been used with increasing frequency.  Prenatal diagnosis and pregnancy termination have also been increasingly employed for serious single-gene diseases that are manifested principally in adulthood.  PGT-M is an assisted reproductive technique that requires ovarian stimulation with infertility medications.  These medications are required to produce multiple oocytes for oocyte retrieval, with eventual fertilization, embryo culture and embryo genetic testing.  In 2008, the Practice Committee of the American Society for Reproductive Medicine (ASRM) recommended PGT-M with IVF as a significant advance over post-conception diagnosis and pregnancy termination in the case of single-gene (monogenic) disorders.  This opinion concludes that PGT-M is also ethically permissible in the case of genetically transmitted conditions that are highly serious and manifest in adulthood.  PGT-M was initially developed to identify IVF embryos that carried genes for serious, childhood-onset diseases.  More recently, PGT-M has been used for serious single-gene diseases that do not develop until adulthood, such as Huntington disease and early-onset Alzheimer disease; for cancer predisposition genes, such as BRCA mutations; and for non-fatal but potentially serious conditions that are apparent at birth. 

The ASRM, in its Practice Committee Opinion, states: "After careful review and consideration, the Committee concludes, based on the arguments outlined above, that PGT-M for adult-onset conditions is ethically justified when the condition is serious and no safe, effective interventions are available.  The Committee further concludes that reproductive liberty arguments ethically allow for PGT-M for adult-onset conditions of lesser severity or penetrance.  In the latter cases, the application of the technology hinges on the evidence that PGT-M is a relatively low-risk procedure; this evidence may change.  The complexity of the scientific, psychological, and social issues involved in this arena compels the Committee to strongly recommend that an experienced genetic counselor with knowledge about PGT-M play a major role in counseling patients considering such procedures. . . .  Comprehensive counseling by a genetic counselor knowledgeable in the field of PGT-M prior to the start of the IVF process is critical to ensure that patients are adequately counseled before determining their course of action. Prenatal diagnostic testing via chorionic villus sampling (CVS) or amniocentesis to confirm the results obtained with PGT-M, or as alternative to PGT-M, should also be discussed with couples as part of their pre-IVF genetic counseling." 

Genetic counseling was performed in this patient. PGT-M is within the standard of care for the patient's indication.  IVF is an Assisted Reproductive Technology that is required to perform a PGT-M cycle.  Therefore, it is within the standard of care and is medically necessary.  Therefore, the health plan did not act reasonably, with sound medical judgment and in the best interest of the patient.