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Beovu

BEOVU is covered under the Medical Benefit when used within the following guidelines. Use outside of these guidelines may result in non-payment unless approved under an exception process.


Adakveo

Adakveo may be considered medically necessary in patients 16 years of age or older with vasoocclusive crises associated with sickle cell disease (SCD) and if the conditions indicated below are met. Adakveo is considered investigational in patients less than 16 years of age and for all other indications.


CSF Hematopoietic Colony Stimulating Factors

G-CSF is classified as a recombinant hematopoietic stimulant. This is not a cancer chemotherapy agent. It is a class II hematopoietic growth factor which acts on progenitor cells capable of forming a single differentiated cell type, the neutrophilic granulocyte, and is thus lineage-specific.


Bevacizumab – Bevacizumab Biologics for Oncologic Uses

Bevacizumab is a humanized monoclonal antibody directed against Vascular Endothelial Growth Factor A (VEGF-A). Vascular Endothelial Growth Factors (VEGF) and their receptors (VEGF-R) contribute to the tumor growth and to the metastasis through the promotion of the angiogenesis.Off-label non-oncologic uses of Bevacizumab are not discussed in this medical policy.


Pegfilgrastim 

Pegfilgrastim is a colony stimulating factor (CSF) that acts on hematopoietic cells by binding to specific cell surface receptors thereby, stimulating proliferation, differentiation, commitment, and end cell functional activation.


Trastuzumab – Trastuzumab Biologics

Trastuzumab is a monoclonal antibody, one of a group of drugs designed to attack specific cancer cells.Trastuzumab – Trastuzumab Biologics

Trastuzumab’s targets are cancer cells that overexpress an oncogene called HER2 or HER2/neu, which occurs in high numbers in about 25 to 30 percent of breast cancers. According to the National Comprehensive Cancer Network (NCCN), breast cancers can be categorized as being HER2 positive or HER2 negative. HER2-positive breast cancer is faster growing and considered more aggressive. Studies indicate that the drug trastuzumab (Herceptin) is effective in treatment of HER2-positive early stage breast cancer and HER2-positive metastatic breast cancer. Trastuzumab is not effective in the treatment of HER2-negative breast cancers.


Rituximab

Rituximab is a genetically engineered chimeric murine/human monoclonal IgG1 kappa antibody directed against the CD20 antigen.» Rituximab binds specifically to the antigen CD20 (human B-lymphocyte-restricted differentiation antigen, Bp35), a hydrophobic transmembrane protein with a molecular weight of approximately 35 kD located on pre-B and mature B lymphocytes. The antigen is expressed on > 90% of B-cell Non-Hodgkin’s Lymphomas (NHL), but the antigen is not found on hematopoietic stem cells, pro-B-cells, normal plasma cells or other normal tissues. B cells are believed to play a role in the pathogenesis of rheumatoid arthritis (RA) and associated chronic synovitis. In Non-Hodgkin’s Lymphoma (NHL) patients, administration of rituximab resulted in depletion of circulating and tissue-based B cells. In Wegeners Granulomatosis with Polyangiitis and Microscopic Polyangiitis patients, peripheral blood CD19 B-cells depleted to less than 10 cells/µl following the first two infusions of rituximab, and remained at that level in most (84%) patients through Month 6. By Month 12, the majority of patients (81%) showed signs of B-cell return with counts >10 cells/µL.


Viscosupplementation Therapy For Knee

Viscosupplementation therapy is part of the therapy used in the treatment of osteoarthritis of the knee. Osteoarthritis results from articular cartilage failure due to the complex interplay of genetic, metabolic, biochemical and biomechanical factors with a secondary component of inflammation. In most patients the initiating mechanism is damage to the articular cartilage either as a single large injury or a series of repeated smaller injuries. The primary symptom of osteoarthritis of the knee is pain, however, because cartilage is aneural, significant radiographic findings are often noted in asymptomatic individuals imaged for other reasons.


Orthodontic Services

Orthodontics services will be recognized for payment if they meet one of the following criteria:1. That sufficient functional disability be present as a result of disease, trauma, congenital anomalies or developmental dysfunction.  This functional disability must be directly related to a dentomaxillofacial (maxila and mandible) abnormality and must include one or more of the following:

a. Significant intraoral trauma while chewing related to malocclusion. Information should be supplied which       indicates the severity and duration of the trauma and the extent of the interruption to daily activities. This may include recurrent damage to the soft tissues of the mouth during mastication, lower incisors injuring the soft tissue of the palate, cheek biting, lip biting, impingement or irritation of buccal or lingual soft tissues of the opposing arch. The injury or damage to soft tissues must be documented by objective findings in the medical record and supported by photos.

b. Speech abnormalities that result in an unintelligible language, which have not responded to speech therapy or frenulectomy.

c. Documented loss of chewing or incisive function.

d. Congenital condition where there are dentomaxillofacial deformities.

2. Significant over or underjet, documented by one of the following:

a. A reverse overjet of 3mm or more, in cases of maxillary deficiency, or mandibular excess.

b. An overjet of 4mm or more, in cases of mandibular deficiency.

c. Open bite of 4mm or more.

d. Deep bite of 7mm or more.

e. Less than six (6) posterior teeth in functional opposition to other teeth as a result of abnormal growth or development (as opposed, to the result of tooth loss in the arch).

The following documents are required to consider the predeterminations of orthodontic services;

1. It must be accompanied with the completed form 193.

2. Lateral cephalometric radiography.

3. Tracing of the cephalometric with the corresponding measurements.

4. Photographs intra and extra oral pre-orthodontics.

5. Report that includes diagnosis (ICD-10) and corresponding CDT code.

6. Study model if necessary.


Temporomandibular Joint Disorder

Diagnostic ProceduresThe following diagnostic procedures may be considered medically necessary in the diagnosis of temporomandibular joint disorder (TMJD):

Diagnostic x-ray, tomograms, and arthrograms;

Computed tomography (CT) scan or magnetic resonance imaging (MRI) (in general, CT scans and MRIs are reserved for presurgical evaluations);

Cephalograms (x-rays of jaws and skull);

Pantograms (x-rays of maxilla and mandible).

(Cephalograms and pantograms should be reviewed on an individual basis.)

The following diagnostic procedures are considered investigational in the diagnosis of TMJD:

Electromyography (EMG), including surface EMG;

Kinesiography;

Thermography;

Neuromuscular junction testing;

Somatosensory testing;

Transcranial or lateral skull x-rays; intraoral tracing or gnathic arch tracing (intended to demonstrate deviations in the positioning of the jaw that are associated with TMJD);

Muscle testing;

Standard dental radiographic procedures;

Range-of-motion measurements;

Computerized mandibular scan (measures and records muscle activity related to movement and positioning of the mandible and is intended to detect deviations in occlusion and muscle spasms related to TMJD);

Ultrasound imaging/sonogram;

Arthroscopy of the temporomandibular joint (TMJ) for purely diagnostic purposes;

Joint vibration analysis.

Nonsurgical Treatments

The following nonsurgical treatments may be considered medically necessary in the treatment of TMJD:

Intraoral removable prosthetic devices or appliances (encompassing fabrication, insertion, adjustment);

Pharmacologic treatment (eg, anti-inflammatory, muscle relaxing, analgesic medications).

The following nonsurgical treatments are considered investigational in the treatment of TMJD:

Electrogalvanic stimulation;

Iontophoresis;

Biofeedback;

Ultrasound;

Devices promoted to maintain joint range of motion and to develop muscles involved in jaw function;

Orthodontic services;

Dental restorations/prostheses;

Transcutaneous electrical nerve stimulation;

Percutaneous electrical nerve stimulation;

Acupuncture;

Hyaluronic acid;

Platelet concentrates ;

Dextrose prolotherapy.

Surgical Treatments

The following surgical treatments may be considered medically necessary in the treatment of TMJD:

Arthrocentesis;

Manipulation for reduction of fracture or dislocation of the TMJ;

Arthroscopic surgery in patients with objectively demonstrated (by physical examination or imaging) internal derangements (displaced discs) or degenerative joint disease who have failed conservative treatment;

Open surgical procedures (when TMJD results from congenital anomalies, trauma, or disease in patients who have failed conservative treatment) including, but not limited to, arthroplasties; condylectomies; meniscus or disc plication, and disc removal.


Orthognathic Surgery

These surgeries may be recognized for payment as long as one of the following criteria is met:1.       That there is enough functional inability resulting from illness, trauma, congenital or development

anomalies. This functional inability must be directly related to facial skeletal deformities of the maxilla or mandible (that is, other causes have been ruled out) and must include one or more of the following:

a.    Intraoral trauma directly related to malocclusion.

b.    Difficulty in swallowing.

c.     Speech difficulty resulting in unintelligible language, which has not responded to speech therapy.

d.    Documented loss of biting or chewing functions.

e.    Documented constriction of the person’s airway.

2.    Significant Over or Under jet documented by any of the following:

a.    Reverse over jet of 3mm or more, in cases of maxillary deficiency or protruded jaw.

b.    An over jet of 4mm or more in cases of mandible deficiencies.

c.    Open bite of 4mm or more .

d.    Impinging deep bite of 7mm or more.

e.    Less than 8 mm, posterior teeth in functional intercuspation as a result of abnormal growth or development. (As opposed to the loss of teeth in the arch).

3.    Malocclusions not amenable to conventional orthodontic correction.


Oral Surgical Splint, Impression and Preparation

This service is considered as surgical guidance and stabilization for orthognathic surgery (surgical splint).


Maxillary Obturators

These services are covered for all patients that have a palatal or nasopharyngeal defect that impairs the person’s ability to swallow efficiently or speak clearly. Although surgery is preferred, it is not always feasible because of the person’s age, health complications or anatomical  causes.The main goal of maxillary obturator (either temporary or permanent) is to close the gap in the palate or the nasopharynx to make swallowing and speaking possible.


Frenectomy

1.Requires predetermination.2.The predetermination must be accompanied by the evaluation and recommendations of the health professional that refers the insured due to the conditions of problems with speech or breastfeeding.

3.It is not recognized for payment for the purpose of closing diastema, except for those coverages that have the benefit of orthodontics.

4.Frenulum that are causing periodontal problems would be covered if have the benefit of periodontal services.


Maxillofacial Prosthesis

The maxillofacial prosthesis services require predetermination.1. The maxillofacial prosthesis services require predetermination.

2. Procedure codes D5982 and D5986 are considered for payment one per arch every 5 years. All other codes are considered for payment to 1 service every 5 years. Check benefits and coinsurance in the Coverage Table.

3. Codes D5951 and D5952 are considered for payment until 14 years of age.

4. Code D5953 is considered for payment from 14 years of age and older.


Visit to Ambulatory Surgical Center and / or Hospital

Code D9420 requires predeterminationand the required documents are;(a)  patient’s diagnostic

(b)  medical condition of the patient

(c)  the reasons that justify  that the patient  receives general anesthesia

(d)  all other information that can help to the determination


Implant Services; Crowns, bridges (retainers and Pontics) and Prostheses Supported by Implants

1. Crowns should be predetermined and are subject to the corresponding coinsurances and caps.2. The implant where the crown will be inserted, must show radiographic evidence of osteointegration and comply with the most recent standards, established by the dental profession.

3. The number of tooth to be used to identify the place of insertion of the crown over an implant will be the area of the missing tooth replaced by the corresponding implant.

4. The replacement of crowns on implants will be considered for replacement, after 5 years have passed, with a proper justification.

5. Partials and dentures over implants are mutually exclusive and cannot be replaced until 5 years have passed.

6. To construct a complete or partial denture over an implant, it includes all procedures, technique, materials, adjustments, repairs and rebases until 6 months after the date of insertion.

7. A complete or partial denture over implant can only be billed after having been inserted. The billing date must coincide with the date of insertion.

8 For those coverages that do not include the benefit of implants but cover crowns on implants, they must comply with the following condition:

It will be an indispensable requirement that there are natural teeth present at both ends of the toothless area making a conventional fixed bridge a viable alternative (see Table of Dental Coverages for this benefit and know the corresponding coinsurances).


Dental Implants

1.   There must be bone integration of the implant, to be able move to the prosthesis phase of crowns, bridges or dentures.2.   To the insured person that does not have implant coverage; the participant can charge him as a private patient, the implant and all the other steps  included before inserting the crown. (Example: «healing caps», surgeries, analogous and abutments).

3.    In those coverages that do not include the benefit of implants, all necessary procedures as a result of a complication for the implant are excluded.


Periodontal non-Surgical Services

All periodontal treatments need predetermination of benefits and the treatment plan for evaluation, should be submitted to Triple S Salud.This allow both, the participant and the insured to confirm beforehand the eligibility of the service for the dental coverage, justification of services with supporting documents, the scope of the covered services, the limits, exclusions, to know which are the deductibles and coinsurance applicable under the insured’s contract.


Periodontal Surgical Services

1.A history of a surgical code will limit for payment the approval of a second surgical code in a samequadrant if three years have not passed.

2. Any surgical procedure for cosmetic purposes is excluded for payment.

3.  In those covers that do not include the benefit of implants, all procedures related to the implant are     excluded, such as, and not limited to, bone grafts and membranes in areas of extraction for implants and maintenance of dental implants.

4. Codes D4210 and D4211 are indicated for cases with gingival hyperplasia with none or minimal bone loss and are limited for payment to one of the two services per quadrant every 3 years.

5.  Code D4210 is used when the quadrant contains a minimum of 4 teeth that need surgery. Code D4211 will be used for cases in which it is only necessary to perform surgery in three teeth or less in the same quadrant.

6.  Every predetermination for soft tissue surgery requires a report indicating its necessity. You must include pictures, if they are available, as a diagnostic aid to advise in the case.

7.  The fee for codes D4240, D4241, D4260 and D4261 includes the fee of codes D4341 and D4342 when these are performed in the same quadrant, on the same day.

8.  Code D4245 is limited for payment to one per quadrant for life. A detailed «by report» is required and will not be considered for payment in conjunction with code D7960 if it is performed in the same visit. It will be billed using the quadrant number.

9.  Code D4249 is limited to one payment per tooth per life and will be invoiced using the number of the tooth. The amount paid for codes D4249 in the same      quadrant may not exceed the rate of code D4260.

10.  The rate of code D4249 was included in that of D4260 and D4261 if done in the set in the same affected area of the quadrant.

11.  The following codes are limited to pay one per quadrant every three years: D4210, D4211, D4240, D4241, D4260, D4261, D4270, D4273 and these are        mutually exclusive. The quadrant number was used.

12.  Codes D4263, D4264, D4277 and D4278 are made using the tooth number and will be limited to 1 per tooth per life. X-rays or photographs should be        sent to show the need and any other diagnostic help that may facilitate the evaluation of the case.

13.  Codes D4277 and D4278 on the ADA sheet in the «observation» section should indicate the classification (MILLER).

14.  The codes D4263 and D4264 must indicate the SITE of the bone defect in addition to the number of the tooth.

15.  The codes D4266 and D4267 will be limited to 1 per quadrant every 3 years and is billed using the tooth number.

16.  The codes D4277 and D4278 are mutually exclusive of codes D4270 and D4273.

17.  The following codes will only be considered for payment in type II bifurcations and interproximal infrabony defects. (D4263, D4264, D4266 and D4267).

18.   Gingival grafts are limited for payment to one (1) per quadrant every three years and will be billed using the quadrant number.


Endodontic Retreatment

If it is necessary to make a retreatment before 5 years, a predetermination is required and this must be accompanied by a detailed report of clinical findings and its necessity with pre-operative periapical radiographic image.


Other Fixed Partial Dentures Services

Rules and limitations for other fixed partial dentures services:1. Code D6940 Stress breaker and D6920, required predetermination and will be considered for payment one by arch every 5 years.

2. Procedure code D6950 precision attachment requires predetermination and is considered for payment one by quadrant every 5 years.


Fixed Prosthesis

All fixed bridges require predetermination. Please refer to the section of Predetermination of Benefits for the requirements related to this process.


Removable Prostheses; Complete and Partial Removable Dentures

All removable dentures; complete or partial, require predetermination in the line of buisiness Advantage and, Comercial line of Buisness  Federal, (D-41). (See dental coverage table for those that do not require predetermination).


Restorative Single Crowns, Inlays and Onlays

Single Crowns, inlays or onlays require predetermination and must be accompanied by periapical radiographic images with diagnostic value and a narrative or report informing the clinical and radiographic findings. These procedures are subject to the corresponding coinsurance


Regional Anesthesia in Vaginal Birth

Local infiltration and pudendal blockade are considered part of the management of labor and are included in the code 59410 for vaginal delivery.Neuraxial analgesia (continuous epidural) is considered for payment in the following situations:

ü Fetal causes (eg, fetal distress, cord prolapses, placental abruption)

ü Maternal causes (eg, maternal cardiovascular disease, maternal respiratory disease, history of malignant hyperthermia, parturient with a high spinal cord injury, when a possible difficulty in intubation is anticipated).

ü Breech fetal presentation

ü Elective application of «forceps»


Tumor-informed Circulating Tumor DNA Testing for Cancer Management

Tumor-informed circulating tumor DNA testing (e.g., Signatera) is considered investigational for all indications.


Germline and Somatic Biomarker Testing (Including Liquid Biopsy) for Targeted Treatment and Immunotherapy in Breast Cancer

BRCA1 and BRCA2 TestingGenetic testing for BRCA1 or BRCA2 germline variants may be considered medically necessary to predict treatment response to PARP inhibitors (eg, olaparib [Lynparza] and talazoparib [Talzenna]) for human epidermal receptor 2 (HER2)-negative metastatic and early stage, high-risk breast cancer (see Policy Guidelines).

Genetic testing of BRCA1 or BRCA2 germline or somatic variants in patients with breast cancer for guiding therapy is considered investigational in all other situations.

PIK3CA Testing

PIK3CA testing may be medically necessary to predict treatment response to alpelisib (Piqray) in patients with hormone receptor-positive, HER2-negative advanced or metastatic breast cancer who have progressed on or after an endocrine-based regimen (see Policy Guidelines).

When tumor tissue is available, use of tissue for testing is preferred but is not required (see Circulating Tumor DNA Testing below).

PIK3CA testing of tissue in patients with breast cancer is considered investigational in all other situations.

NTRK Gene Fusion Testing

Analysis of NTRK gene fusions may be considered medically necessary to predict treatment response to entrectinib (Rozlytrek) or larotrectinib (Vitrakvi) in patients with locally advanced or metastatic breast cancer that has progressed following standard treatment and who have no alternative treatment option (see Policy Guidelines).

Analysis of NTRK gene fusions in patients with breast cancer is considered investigational in all other situations.

PD-L1 Testing

PD-L1 testing may be considered medically necessary to predict treatment response to pembrolizumab (Keytruda) in patients with hormone receptor-negative/HER2-negative (triple negative) recurrent or metastatic breast cancer (see Policy Guidelines).

PD-L1 testing in patients with breast cancer is considered investigational in all other situations, including to predict treatment response to atezolizumab (Tecentriq).

MSI-H/dMMR Testing

MSI-H/dMMR testing may be considered medically necessary to predict treatment response to pembrolizumab (Keytruda) in patients with unresectable or metastatic breast cancer that has progressed following standard treatment and who have no alternative treatment option (see Policy Guidelines).

MSI-H/dMMR testing in patients with breast cancer is considered investigational in all other situations, including to predict treatment response to dostarlimab-gxly (Jemperli).

Ki-67 testing

Ki-67 testing to predict treatment response to abemaciclib (Verzenio) in patients with breast cancer is considered investigational.

Tumor Mutational Burden Testing

Tumor mutational burden testing to predict response to immunotherapy in patients with breast cancer is considered investigational.

Circulating Tumor DNA Testing (Liquid Biopsy)

PIK3CA testing using FoundationOne Liquid CDx may be considered medically necessary to predict treatment response to alpelisib (Piqray) in patients with hormone receptor-positive, HER2 negative advanced or metastatic breast cancer who have progressed on or after an endocrine-based regimen (see Policy Guidelines).

When tumor tissue is available, use of tissue for testing is preferred but is not required.

Circulating tumor DNA testing in patients with breast cancer is considered investigational in all other situations.

Circulating Tumor Cell Testing

Analysis of circulating tumor cells to select treatment in patients with breast cancer is considered investigational.


Molecular Testing for Variants Associated with Hereditary Ovarian Cancer

s the net health outcome.Testing for germline BRIP1, RAD51C, and RAD51D variants for ovarian cancer risk assessment in adults may be considered medically necessary when the following criteria are met:

The individual has a diagnosis of epithelial ovarian cancer, fallopian tube cancer, or primary peritoneal cancer; AND

The individual has not previously been tested for these gene variants; AND

The individual is thought to be the most informative member of a family (proband) to have genetic testing (see Policy Guidelines); AND

The individual has closely related (first- and/or second-degree) relatives who are considering genetic testing for these gene variants to inform prophylactic decision-making or who have test results that cannot be fully interpreted without testing an affected relative; OR

The individual has not been diagnosed with epithelial ovarian cancer; AND

The individual has any blood relative with a known pathogenic/likely pathogenic germline BRIP1, RAD51C, or RAD51D variant; OR

The individual has a first- or second-degree relative diagnosed with ovarian cancera.

Testing for germline BRIP1, RAD51C, and RAD51D variants in individuals diagnosed with epithelial ovarian cancer, fallopian tube cancer, or primary peritoneal cancer to guide treatment of the diagnosed individual is considered investigational.

Testing for germline BRIP1, RAD51C, and RAD51D variants in adults who do not meet the criteria above is considered investigational.

a For familial assessment, first- and second-degree relatives are blood relatives on the same side of the family (maternal or paternal):

First-degree relatives: parents, siblings, and children

Second-degree relatives: grandparents, aunts, uncles, nieces, nephews, grandchildren, and half-siblings.


Serologic Genetic and Molecular Screening for Colorectal Cancer

SEPT9 methylated DNA testing (eg, ColoVantage®, Epi proColon®) is considered investigational for colorectal cancer screening.Gene expression profiling (eg, ColonSentry®, BeScreened™-CRC ) is considered investigational for colorectal cancer screening.

Genetic Counseling

Genetic counseling is primarily aimed at patients who are at risk for inherited disorders, and experts recommend formal genetic counseling in most cases when genetic testing for an inherited condition is considered. The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, genetic counseling will assist individuals in understanding the possible benefits and harms of genetic testing, including the possible impact of the information on the individual’s family. Genetic counseling may alter the utilization of genetic testing substantially and may reduce inappropriate testing. Genetic counseling should be performed by an individual with experience and expertise in genetic medicine and genetic testing methods.

Coding

See the Codes table for details.


Sphenopalatine Ganglion Block for Headache

Sphenopalatine ganglion blocks are considered investigational for all indications, including but not limited to the treatment of migraines and non-migraine headaches.Coding

Please see the Codes table for details.


Acupuncture for Pain Management, Nausea and Vomiting, and Opioid Dependence

Acupuncture may be considered medically necessary for treatment of episodic migraines and/or tension-type headaches.Acupuncture is considered investigational for the treatment of other pain-related conditions including but not limited to:

Low back pain

Shoulder pain

Lateral elbow pain

Carpal tunnel syndrome

Cancer pain in adults

Chronic pain in patients with spinal cord injury

Pain in endometriosis

Pain in rheumatoid arthritis.

Acupuncture is considered investigational for the prevention or treatment of nausea and/or vomiting.

Acupuncture is considered investigational for opioid reduction or cessation in opiate users.


Next Generation Sequencing for the Assessment of Measurable Residual Disease

Next-generation sequencing (eg clonoSEQ) to detect measurable residual disease (MRD) at a threshold of 10-4 as an alternative test in patients with acute lymphoblastic leukemia may be considered medically necessary.Next-generation sequencing (eg clonoSEQ) to detect measurable residual disease (MRD) at a threshold of less than 10-4 in patients with acute lymphoblastic leukemia is considered investigational.

Next-generation sequencing (eg clonoSEQ) to detect MRD at a threshold of 10-4 as an alternative test in patients with chronic lymphocytic leukemia may be considered medically necessary.

Next-generation sequencing (eg clonoSEQ) to detect measurable residual disease (MRD) at a threshold of less than 10-4 in patients with chronic lymphocytic leukemia is considered investigational

Next-generation sequencing (eg clonoSEQ) detect MRD at a threshold of 10-5as an alternative test in patients with multiple myeloma may be considered medically necessary.

Next-generation sequencing (eg clonoSEQ) to detect measurable residual disease at a threshold of less than 10-5 in patients with multiple myeloma is considered investigational.

Next-generation sequencing to detect MRD is considered investigational in all other situations.


Genetic Testing for Statin-Induced Myopathy

Genetic testing for the presence of variants in the SLCO1B1 gene to identify patients at risk of statin-induced myopathy is considered not medically necessary.


Human Leukocyte Antigen Testing for Celiac Disease

HLA-DQ2 and HLA-DQ8 testing may be considered medically necessary to rule out celiac disease in:patients with persistent symptoms despite negative serology and histology; or

patients with discordant serologic and histologic (biopsy) findings.

HLA-DQ2 and HLA-DQ8 testing for celiac disease is considered investigational in all other situations.


Measurement of Serum Antibodies to Selected Biologic Agent

Measurement of antidrug antibodies in a patient receiving treatment with a biologic agent, either alone or as a combination test, which includes the measurement of serum tumor necrosis factor (TNF) blocking agent levels, is considered investigational.


Genetic Testing for Hereditary Pancreatic Cancer

Genetic testing for BRCA1, BRCA2, and PALB2 variants to guide selection for treatment with platinum-based chemotherapy in previously untreated patients with locally advanced or metastatic pancreatic cancer may be considered medically necessaryGenetic testing for BRCA1 and BRCA2 variants to guide selection for treatment with olaparib (Lynparza) in patients with pancreatic cancer may be considered medically necessary

Genetic testing for ATM, CDK2NA, EPCAM, MMR genes (MLH1, MSH2, MSH6, PMS2), STK11, and TP53 in patients with pancreatic cancer is considered investigational unless the individual meets criteria for testing as specified in another policy (see policy guidelines)

Genetic testing for ATM, BRCA1, BRCA2, CDK2NA, EPCAM, MMR genes (MLH1, MSH2, MSH6, PMS2), PALB2, STK11, and TP53 in asymptomatic individuals at high risk for hereditary pancreatic cancer is considered investigational unless the individual meets criteria for testing as specified in another policy (see policy guidelines)


Genetic Testing for Heterozygous Familial Hypercholesterolemia

Genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) may be considered medically necessary when a definitive diagnosis is required as an eligibility criterion for specialty medications (see Policy Guidelines) and when the following criteria are met:Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical exam, lipid levels) (see Policy Guidelines); AND

Alternative treatment considerations are in place for individuals who have an uncertain diagnosis of FH and a negative genetic test.

Genetic testing to confirm a diagnosis of heterozygous FH is considered investigational in all other situations.

Genetic testing of adults who are close relatives of individuals with FH to determine future risk of disease is considered investigational (see Policy Guidelines).

Genetic testing of children of individuals with FH to determine future risk of disease may be considered medically necessary when the following criteria are met (see Policy Guidelines):

A pathogenic variant is present in a parent; AND

General lipid screening is not recommended based on age or other factors.


Microarray-Based Gene Expression Profile Testing for Multiple Myeloma Risk Stratification

Microarray-based gene expression profile testing for multiple myeloma is considered investigational for all indications.


Genetic Testing for Lipoprotein(a) Variant(s) as a Decision Aid for Aspirin Treatment

The use of genetic testing for the LPA rs3798220 allele (LPA-Aspirin Genotype) is considered investigational in patients who are being considered for treatment with aspirin to reduce the risk of cardiovascular events.


Gene Therapy for Inherited Retinal Dystrophy

Adeno-associated virus vector-based gene therapy via subretinal injection with voretigene neparvovec is considered medically necessary for patients with vision loss due to biallelic RPE65 variant-associated retinal dystrophy if they meet all of the following criteria:Are adults (age <65 years) or children (age ≥3 years) Documentation of the following: Genetic testing confirming presence of biallelic RPE65 pathogenic variant(s) or likely pathogenic variants (see Policy Guidelines for additional details) Single RPE65 pathogenic variant or likely pathogenic variant found in the homozygous state Two RPE65 pathogenic variants or likely pathogenic variants found in the trans configuration (compound heterozygous state) by segregation analysis Presence of viable retinal cells as determined by treating physicians as assessed by optical coherence tomography imaging and/or ophthalmoscopy: An area of retina within the posterior pole of >100 μm thickness shown on optical coherence tomography, OR

≥3 disc areas of retina without atrophy or pigmentary degeneration within the posterior pole, OR

Remaining visual field within 30° of fixation as measured by III4e isopter or equivalent.

Do not have any of the following:

Pregnancy in females.

Breastfeeding.

Use of retinoid compounds or precursors that could potentially interact with the biochemical activity of the RPE65 enzyme; individuals who discontinue use of these compounds for 18 months may become eligible.

Prior intraocular surgery within 6 months.

Preexisting eye conditions or complicating systemic diseases that would preclude the planned surgery or interfere with the interpretation of the study. Complicating systemic diseases would include those in which the disease itself, or the treatment for the disease, can alter ocular function. Examples are malignancies whose treatment could affect central nervous system function (eg, radiotherapy of the orbit; leukemia with central nervous system/optic nerve involvement). Subjects with diabetes or sickle cell disease would be excluded if they had any manifestation of advanced retinopathy (eg, macular edema, proliferative changes). Also excluded would be subjects with immunodeficiency (acquired or congenital) because they could be susceptible to opportunistic infection (eg, cytomegalovirus retinitis).

Other applications of voretigene neparvovec are considered investigational.


Genetic Testing for Neurofibromatosis

Genetic testing for neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2) pathogenic variants may be considered medically necessary when a diagnosis of neurofibromatosis is clinically suspected due to signs of disease, but a definitive diagnosis cannot be made without genetic testing.Genetic testing for NF1 or NF2 pathogenic variants in at-risk relatives, with no signs of disease, may be considered medically necessary when a definitive diagnosis cannot be made without genetic testing AND at least one of the following criteria is met:

A close relative (ie, first-, second-, or third-degree relative) has a known NF1 or NF2 variant; or

A close relative has been diagnosed with neurofibromatosis but whose genetic status is unavailable.

Genetic testing for neurofibromatosis for all other situations not meeting the criteria outlined above is considered investigational.


Genetic Testing for Alpha 1 – Antitrypsin Deficiency

Genetic testing for alpha1-antitrypsin deficiency may be considered medically necessary when either of the following conditions are met:Patient is suspected of having alpha1-antitrypsin deficiency because of clinical factors and/or because the patient may be at high risk of having alpha1-antitrypsin deficiency due to a first-degree relative with alpha1-antitrypsin deficiency (see Policy Guidelines section); OR

Patient has a serum alpha1-antitrypsin level in the range of severe deficiency (see Policy Guidelines section).

Genetic testing for alpha1-antitrypsin deficiency is considered investigational in all other situations.


DNA-Based Testing for Adolescent Idiopathic Scoliosis

DNA-based prognostic testing for adolescent idiopathic scoliosis is considered investigational.


Circulating Tumor DNA for Management of Non-Small-Cell Lung Cancer (Liquid Biopsy)

The use of proteomic testing, including but not limited to the VeriStrat assay, is considered investigational for all uses in the management of non-small-cell lung cancer.


Use of Common Genetic Variants (Single Nucleotide Variants) to Predict Risk of Nonfamilial Breast Cancer

Testing for 1 or more single nucleotide variants to predict an individual’s risk of breast cancer is considered investigational.The GeneType® breast cancer risk test is considered investigational for all indications, including but not limited to use as a method of estimating individual patient risk for developing breast cancer.


Gene Expression Profiling for Cutaneous Melanoma

Gene expression testing, including but not limited to the Pigmented Lesion Assay, in the evaluation of individuals with suspicious pigmented lesions is considered investigational.Gene expression testing, including but not limited to the myPath Melanoma test, in the evaluation of individuals with melanocytic lesions with indeterminate histopathologic features is considered investigational.

Gene expression testing, including but not limited to DecisionDx-Melanoma, in the evaluation of individuals with cutaneous melanoma is considered investigational for all indications.


Miscellaneous Genetic and Molecular Diagnostic Tests

All tests listed in this policy are considered investigational and grouped according to the categories of genetic testing outlined in evidence review 2.04.91:Testing of an affected (symptomatic) individual’s germline to benefit the individual (excluding reproductive testing)
Diagnostic testing
Prognostic testing
Therapeutic testing
Testing an asymptomatic individual to determine future risk of disease.


                                                                      Genotype-Guided Tamoxifen Treatment

Genotyping to determine cytochrome P450 2D6 (CYP2D6) variants is considered investigational for the purpose of managing treatment with tamoxifen for women at high risk for or with breast cancer.


Serum Biomarker Panel Testing for Systemic Lupus Erythematosus and Other Connective Tissue Diseases

Serum biomarker panel testing with proprietary algorithms and/or index scores for the diagnosis of systemic lupus erythematosus and other connective tissue diseases is considered investigational.


Genetic Testing for Mitochondrial Disorders

Genetic testing to establish a genetic diagnosis of a mitochondrial disorder may be considered medically necessary when signs and symptoms of a mitochondrial disorder are present and genetic testing may eliminate the need for muscle biopsy.Targeted genetic testing for a known familial variant in at-risk relatives may be considered medically necessary as preconceptional carrier testing under the following conditions (see Benefit Application section):

There is a defined mitochondrial disorder in the family of sufficient severity to cause impairment of quality of life or functional status; AND

A variant that is known to be pathogenic for that specific mitochondrial disorder has been identified in the index case.

Genetic testing for mitochondrial disorders is considered investigational in all other situations when the criteria for medical necessity are not met.


Proteogenomic Testing for Patients With Cancer

Proteogenomic testing (see Policy Guidelines section) of patients with cancer (including, but not limited to the GPS Cancer test) is considered investigational for all indications.


Gene Expression Profiling For Uveal Melanoma

Gene expression profiling for uveal melanoma with DecisionDx-UM is medically necessary for patients with primary, localized uveal melanoma.Gene expression profiling for uveal melanoma that does not meet the above criteria is investigational.


Circulating Tumor DNA and Circulating Tumor Cells for Cancer Management (Liquid Biopsy)

The use of circulating tumor DNA and/or circulating tumor cells is considered investigational for all indications reviewed herein  (see Policy Guidelines).


Molecular Testing for Chronic Heart Failure and Heart Transplant

The use of the Presage ST2 Assay to evaluate the prognosis of patients diagnosed with chronic heart failure is considered investigational.The use of the Presage ST2 Assay to guide management (eg, pharmacologic, device-based, exercise) of patients diagnosed with chronic heart failure is considered investigational.

The use of the Presage ST2 Assay in the post cardiac transplantation period, including but not limited to predicting prognosis and predicting acute cellular rejection, is considered investigational.

The use of the myTAIHEART assay in the post cardiac transplantation period, including but not limited to predicting prognosis and predicting acute cellular rejection, is considered investigational.


Molecular Testing in the Management of Pulmonary Nodules

Plasma-based proteomic screening, including but not limited to BDX-XL2 (Nodify XL2), in individuals with undiagnosed pulmonary nodules detected by computed tomography is considered investigational.Gene expression profiling on bronchial brushings, including but not limited to the Percepta® Bronchial Genomic Classifier, in individuals with indeterminate bronchoscopy results from undiagnosed pulmonary nodules is considered investigational.


KIF6 Genotyping for Predicting Cardiovascular Risk

KIF6 genotyping is considered investigational for predicting cardiovascular risk and/or the effectiveness of statin therapy.


Genetic Testing for Limb-Girdle Muscular Dystrophies

Genetic testing for genes associated with limb-girdle muscular dystrophy to confirm a diagnosis of limb-girdle muscular dystrophy may be considered medically necessary when signs and symptoms of limb-girdle muscular dystrophy are present but a definitive diagnosis cannot be made without genetic testing, and when at least one of the following criteria are met:Results of testing may lead to changes in clinical management that improve outcomes (eg, confirming or excluding the need for cardiac surveillance); OR

Genetic testing will allow the affected patient to avoid invasive testing, including muscle biopsy.

Genetic testing for genes associated with limb-girdle muscular dystrophy in the reproductive setting may be considered medically necessary when:

There is a diagnosis of limb-girdle muscular dystrophy in one or both of the parents, AND

Results of testing will allow informed reproductive decision making.

Targeted genetic testing for a known familial variant associated with limb-girdle muscular dystrophy may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:

The individual has a close (ie, first- or second-degree) relative with a known familial variant consistent with limb-girdle muscular dystrophy, AND

Results of testing will lead to changes in clinical management (eg, confirming or excluding the need for cardiac surveillance).

Genetic testing for genes associated with limb-girdle muscular dystrophy may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:

The individual has a close (ie, first- or second-degree) relative diagnosed with limb-girdle muscular dystrophy whose genetic status is unavailable, AND

Results of testing will lead to changes in clinical management (eg, confirming or excluding the need for cardiac surveillance).

Genetic testing for genes associated with limb-girdle muscular dystrophy is considered investigational in all other situations.


Genetic Testing for Idiopathic Dilated Cardiomyopathy

Comprehensive genetic testing for individuals with signs or symptoms of dilated cardiomyopathy, which is considered idiopathic after a negative workup for secondary causes, is considered medically necessary.Targeted genetic testing for asymptomatic individuals with a first-degree relative who has dilated cardiomyopathy and a known familial variant is considered medically necessary.

Genetic testing for dilated cardiomyopathy is considered investigational in all other situations.


Genetic Testing for CHARGE Syndrome

Genetic testing for CHARGE syndrome may be considered medically necessary to confirm a diagnosis in a patient with signs/symptoms of CHARGE syndrome when a definitive diagnosis cannot be made with clinical criteria (see Policy Guidelines section).Genetic testing for CHARGE syndrome is considered investigational in all other situations.


Genetic Testing for Facioscapulohumeral Muscular Dystrophy

Genetic testing for facioscapulohumeral muscular dystrophy may be considered medically necessary to confirm a diagnosis in a patient with clinical signs of the disease (see the Policy Guidelines section).Genetic testing for facioscapulohumeral muscular dystrophy is considered investigational for all other indications.


Genetic Testing for Macular Degeneration

Genetic testing for macular degeneration is considered investigational.


Invasive Prenatal (Fetal) Diagnostic Testing

Chromosomal Microarray TestingIn patients who are undergoing invasive diagnostic prenatal (fetal) testing, chromosome microarray testing may be considered medically necessary as an alternative to karyotyping (see Policy Guidelines).

Single-Gene Disorders

Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders may be considered medically necessary when a pregnancy has been identified as being at high risk:

For autosomal dominant conditions, at least one of the parents has a known pathogenic variant.

For autosomal recessive conditions:

Both parents are suspected to be carriers or are known to be carriers, OR

One parent is clinically affected and the other parent is suspected to be or is a known carrier.

For X-linked conditions: A parent is suspected to be or is a known carrier.

AND, ALL of the following are met:

The natural history of the disease is well-understood, and there is a reasonable likelihood that the disease is one with high morbidity in the homozygous or compound heterozygous state, AND

Any variants have high penetrance, AND

The genetic test has adequate sensitivity and specificity to guide clinical decision making and residual risk is understood, AND

An association of the marker with the disorder has been established.

If the above criteria for molecular analysis of single-gene disorders are not met, invasive diagnostic prenatal (fetal) testing is considered investigational.

Next-Generation Sequencing
The use of next-generation sequencing in the setting of invasive prenatal testing is considered investigational.


Noninvasive Prenatal Screening for Fetal Aneuploidies, Microdeletions and Twin Zygosity Using Cell-Free Fetal DNA

Nucleic acid sequencing-based testing of maternal plasma to screen for trisomy 21, 18, and 13 may be considered medically necessary in women with singleton pregnancies.Nucleic acid sequencing-based testing of maternal plasma for fetal sex chromosome aneuploidies is considered investigational.

Nucleic acid sequencing-based testing of maternal plasma for trisomy 21 is considered investigational in women with twin or multiple pregnancies.

Nucleic acid sequencing-based testing of maternal plasma for trisomy 13 and/or 18, other than in the situations specified above, is considered investigational.

Nucleic acid sequencing-based testing of maternal plasma for microdeletions is considered investigational.

Nucleic acid sequencing-based testing of maternal plasma for twin zygosity is considered investigational.

Vanadis NIPT of maternal plasma to screen for trisomy 21, 18 and 13 is considered investigational in all situations.


LOS ENSAYOS DE VARIOS ALITOS CON EL ALISIS ALGORITMICO PARA PREDECIR EL RIESGO DE DABETES TIPO 2

Ensayo de varios analitos con las pruebas de análisis de algoritmos (MAAA) se han desarrollado para predecir el riesgo de diabetes. La puntuación de riesgo de la diabetes PreDx® (DRS) es un MAAA que está destinado a predecir el riesgo a 5 años de la diabetes tipo 2 a través de una combinación de biomarcadores séricos 7 que se combinan a través de un algoritmo patentado para generar una puntuación de riesgo. El uso propuesto es identificar a los pacientes en mayor riesgo de desarrollar diabetes tipo 2, así como detectar potencialmente intervenciones preventivas en los pacientes con mayor riesgo.Hay una falta de pruebas sobre la utilidad clínica de la PreDx® DRS. No se identificaron estudios publicados que utiliza la puntuación de riesgo para seleccionar a los pacientes para las intervenciones preventivas. Como resultado, no se sabe cómo este instrumento llevará a cabo en la orientación de las intervenciones preventivas a los pacientes que más se benefician, ni se sabe cómo esta puntuación de riesgo se compara con otros métodos de selección de pacientes de alto riesgo. No se ha publicado la literatura se ha encontrado en otros maaas que el PreDx DRS. Por lo tanto, el uso de maaas para predecir el riesgo de diabetes, incluyendo, pero no limitado a la PreDx® DRS, se considera de investigación.

Política
El uso de paneles de varios analitos con el análisis algorítmico (MASA) para la predicción de la diabetes tipo 2 no se considera para pago

Directrices de Política
81506: Endocrinología (diabetes tipo 2), ensayos bioquímicos de siete analitos (glucosa, HbA1c, insulina, hs-CRP, la adiponectina, la ferritina, la interleucina-2 alfa del receptor), utilizando suero o plasma, el algoritmo de informes una puntuación de riesgo.

Resumen de la Sección
El PreDx® DRS ha sido probado en 2 cohortes prospectivas diferentes de pacientes, con AUC reportado para la predicción de la diabetes de 0,78 y 0,84, lo que indica una buena precisión en general para predecir la progresión de la diabetes. Se ha evaluado en 1 cohorte EE.UU., pero no de otro modo ha sido probado en una amplia gama de poblaciones de pacientes. Como resultado, hay una cierta incertidumbre en la exactitud predictiva y generalización de la puntuación de riesgo.

La evidencia es insuficiente para determinar la eficacia comparativa de la puntuación de los PreDx® en comparación con otras puntuaciones de riesgo de la diabetes. El único estudio que comparó la puntuación PreDx® con 2 medidas establecidas (Framingham de riesgo de diabetes, San Antonio puntuación de riesgo de la diabetes del corazón) informó que la precisión global, tal como se define por las AUC para predecir la progresión de la diabetes, no difirió significativamente entre las 3 medidas. Un estudio realizado en una cohorte de pacientes de EE.UU. sugirió que la puntuación PreDx® puede predecir mejor la diabetes que varios factores de riesgo individuales solos. Sin embargo, esta evidencia comparativa es incompleta, y se necesitan estudios comparativos más exhaustivos.


Multibiomarker Disease Activity Blood Test for Rheumatoid Arthritis

The use of a multibiomarker disease activity score for rheumatoid arthritis (eg, Vectra® score) is considered investigational in all situations.


Proteomic Testing for Targeted Therapy in Non-Small-Cell Lung Cancer

The use of proteomic testing, including but not limited to the VeriStrat assay, is considered investigational for all uses in the management of non-small-cell lung cancer.


Laboratory and Genetic Testing for Use of 5-Fluorouracil in Patients with Cancer

My 5-fluorouracil™ assay testing or other types of assays for determining 5-fluorouracil area under the curve in order to adjust 5-fluorouracil dose for colorectal cancer patients or other cancer patients is considered investigational.Testing for genetic variants in dipyrimidine dehydrogenase (DPYD) or thymidylate synthase (TYMS) genes to guide 5-fluorouracil dosing and/or treatment choice in patients with cancer is considered investigational.


Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders

Individual genetic testing for the diagnosis of Marfan syndrome, Ehlers-Danlos syndrome type IV, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, and panels comprised entirely of focused genetic testing limited to the following genes: FBN1 and MYH11 ; ACTA2, TGFBR1, and TGFBR2 ; and COL3A1may be considered medically necessary when signs and symptoms of a connective tissue disorder are present, but a definitive diagnosis cannot be made using established clinical diagnostic criteria.Individual, targeted familial variant testing for Marfan syndrome, Ehlers-Danlos syndrome type IV, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, for assessing future risk of disease in an asymptomatic individual, may be considered medically necessary when there is a known pathogenic variant in the family.

Genetic testing panels for Marfan syndrome, Ehlers-Danlos syndrome type IV, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders that are not limited to focused genetic testing are considered investigational.


Preimplantation Genetic Testing

Preimplantation genetic diagnosis may be considered medically necessary as an adjunct to in vitro fertilization (IVF) in couples not known to be infertile who meet one of the criteria listed below.For evaluation of an embryo at an identified elevated risk of a genetic disorder such as when:

Both partners are known carriers of a single-gene autosomal recessive disorder
One partner is a known carrier of a single-gene autosomal recessive disorder, and the partners have an offspring who has been diagnosed with that recessive disorder
One partner is a known carrier of a single-gene autosomal dominant disorder
One partner is a known carrier of a single X-linked disorder, or

For evaluation of an embryo at an identified elevated risk of structural chromosomal abnormality such as for a:

Parent with balanced or unbalanced chromosomal translocation.

Preimplantation genetic diagnosis as an adjunct to IVF is considered investigational in patients or couples who are undergoing IVF in all situations other than those specified above.

Preimplantation genetic screening as an adjunct to IVF is considered investigational in patients or couples who are undergoing IVF in all situations.


Analysis of MGMT Promoter Methylation in Malignant Gliomas

Methylation analysis of the O6-­methylguanine DNA methyltransferase (MGMT) gene promoter from glioma tumor tissue is medically necessary for individuals who meet the following criteria:They have a tumor type consistent with high-­grade malignant glioma (eg, glioblastoma multiforme, anaplastic astrocytoma); and
Candidate for temozolomide therapy or radiotherapy; and
Methylation results will be used to direct their therapy choices.

MGMT promoter methylation analysis is investigational in situations that do not meet the above criteria.


Genetic Testing for the Diagnosis of Inherited Peripheral Neuropathies

Genetic testing is considered medically necessary when the diagnosis of an inherited peripheral motor or sensory neuropathy is suspected due to signs and/or symptoms, but a definitive diagnosis cannot be made without genetic testing.Genetic testing for an inherited peripheral neuropathy is considered investigational for all other indications.


Genotype-Guided Warfarin Dosing

Genotyping to determine cytochrome P450 2C9 (CYP2C9), P450 4F2 (CYP4F2), and vitamin K epoxide reductase subunit C1 (VKORC1) genetic variants is considered investigational for the purpose of managing the administration and dosing of warfarin, including use in guiding the initial warfarin dose to decrease time to stable INR and to reduce the risk of serious bleeding.


Genetic Testing for Duchenne and Becker Muscular Dystrophy

Genetic testing for DMD gene variants may be considered medically necessary under the following conditions:In a male with signs and symptoms of a dystrophinopathy in order to confirm the diagnosis and direct treatment.

For at-risk female relatives (see Policy Guidelines and Benefit Application sections):

To confirm or exclude the need for cardiac surveillance.

For preconception testing to determine the likelihood of an affected offspring in a woman considering a pregnancy.

For at-risk male offspring (see Policy Guidelines and Benefit Application sections):

To confirm or exclude the need for medical and cardiac surveillance.

Genetic testing for DMD gene variants is considered investigational in all other situations.


Genetic Cancer Susceptibility Panels Using Next Generation Sequencing

General genetic cancer susceptibility panel testing is considered investigational; however, when the coverage criteria of other policies is met (see related policies), then limited genetic cancer susceptibility panels including only the gene variants for which a given member qualifies may be considered medically necessary.


BCR-ABL1 Testing in Chronic Myelogenous Leukemia and Acute Lymphoblastic Leukemia

Chronic Myelogenous LeukemiaBCR-ABL1 qualitative testing for the presence of the fusion gene may be considered medically necessary for the diagnosis of chronic myeloid leukemia (see Policy Guidelines section).

BCR-ABL1 testing for messenger RNA transcript levels by quantitative real-time reverse transcription-polymerase chain reaction at baseline before initiation of treatment and at appropriate intervals (see Policy Guidelines section) may be considered medically necessary for monitoring of chronic myeloid leukemia treatment response and remission.

Evaluation of ABL kinase domain (KD) single nucleotide variants to assess patients for tyrosine kinase inhibitor resistance may be considered medically necessary when there is an inadequate initial response to treatment or any sign of loss of response (see Policy Guidelines section); and/or when there is a progression of the disease to the accelerated or blast phase.

Evaluation of ABL KD single nucleotide variants is considered investigational for monitoring in advance of signs of treatment failure or disease progression.

Acute Lymphoblastic Leukemia

BCR-ABL1 testing for messenger RNA transcript levels by quantitative real-time reverse transcription-polymerase chain reaction at baseline before initiation of treatment and at appropriate intervals during therapy (see Policy Guidelines section) may be considered medically necessary for monitoring of Philadelphia chromosome-positive acute lymphoblastic leukemia treatment response and remission.

Evaluation of ABL KD single nucleotide variants to assess patients for tyrosine kinase inhibitor resistance may be considered medically necessary when there is an inadequate initial response to treatment or any sign of loss of response.

Evaluation of ABL KD single nucleotide variants is considered investigational for monitoring in advance of signs of treatment failure or disease progression.


General Approach to Genetic Testing

Genetic testing classified in one of the categories below may be considered medically necessary when all criteria are met for each category, as outlined in the Rationale section:1.     Testing of an affected (symptomatic) individual’s germline DNA to benefit the individual (excluding reproductive testing)

a.     Diagnostic

b.     Prognostic

c.     Therapeutic

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

a.     Diagnostic

b.     Prognostic

c.     Therapeutic

3.     Testing an asymptomatic individual to determine future risk of disease.

Genetic testing that does not meet the criteria for a specific category is considered investigational or not medically necessary, according to the standard definitions used for these terms (see Policy Guidelines section).


GENOTIPADO DE NUCLEOTIDO UNICO Genotípico de 9p21-POLIMORFISMOS DE PREDECIER EL RIESGO DE ENFERMEDAD CARDIOVASCULAR O ANEURISMAS

Una serie de polimorfismos de un solo nucleótido (SNP altamente correlacionados) que se encuentran en los locus 9p21 se han asociado de forma significativa con el riesgo de infarto de miocardio (IM), en particular de aparición temprana de Infarto, y otras manifestaciones de enfermedad cardiovascular. También se han reportado asociaciones entre SNPs y 9p21 riesgo de aneurisma de aorta abdominal, los aneurismas intracraneales, y otros trastornos vasculares. El genotipado de SNPs 9p21 se ha investigado para identificar pacientes con riesgo de trastornos cardiovasculares.Política
El uso de genotipificación para 9p21 polimorfismos de nucleótido único (SNPs) no se considera para pago para todos los usos clínicos, incluyendo pero no limitado a la identificación de los pacientes que pueden estar en mayor riesgo de enfermedad cardiovascular o de sus manifestaciones (por ejemplo, infarto de miocardio, accidente cerebrovascular isquémico, enfermedad arterial periférica, la calcificación de las arterias coronarias), o la identificación de pacientes que pueden estar en un mayor riesgo de enfermedad aneurismática (aneurismas aórticos abdominales, aneurismas intracraneales, vasculopatía coroidea polipoidal


Genetic Testing for FLT3, NPM1, and CEBPA Variants in Cytogenetically Normal Acute Myeloid Leukemia

Genetic testing for FLT3 internal tandem duplication (FLT3-ITD), NPM1,and CEBPA variants may be considered medically necessary in cytogenetically normal acute myeloid leukemia (see Policy Guidelines section).Genetic testing for FLT3-ITD , NPM1, and CEBPA variants is considered investigational in all other situations.

Genetic testing for FLT3 tyrosine kinase domain variants is considered investigational.

Genetic testing for FLT3, NPM1, and CEBPA variants to detect minimal residual disease is considered investigational.


Genetic Testing for Hereditary Pancreatitis

Genetic testing for hereditary pancreatitis may be considered medically necessary for patients aged 18 years and younger with unexplained acute recurrent (>1 episode) or chronic pancreatitis with documented elevated amylase or lipase levels.Genetic testing for hereditary pancreatitis is considered investigational in all other situations.


Genetic Testing for Fanconi Anemia

Genetic testing for the diagnosis of Fanconi anemia may be considered medically necessary when the following criteria are met:Clinical signs and symptoms of Fanconi anemia are present; AND

A definitive diagnosis of Fanconi anemia cannot be made after standard workup, ie, nondiagnostic results on chromosome breakage analysis.

Genetic testing for the diagnosis of Fanconi anemia is considered not medically necessary when the above criteria are not met.

Genetic testing of asymptomatic individuals to determine future risk of disease may be considered medically necessary when there is a first-degree relative with a documented diagnosis of Fanconi anemia.

Genetic testing for Fanconi anemia is considered investigational in all other situations.


Genetic Testing for a Thalassemia

Genetic testing to confirm a diagnosis of α-thalassemia is considered not medically necessary.Genetic testing of patients with hemoglobin H disease (α-thalassemia intermedia) to determine prognosis is considered investigational.

Preconception (carrier) testing for α-thalassemia in prospective parents may be considered medically necessary when both parents have evidence of possible α-thalassemia (including α-thalassemia minor, hemoglobin H disease [α-thalassemia intermedia], or α-thalassemia major) based on biochemical testing (see Policy Guidelines section).

Genetic testing for α-thalassemia in other clinical situations (recognizing that prenatal testing is not addressed in this policy) is considered investigational.


 Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders

Standard whole exome sequencing, with trio testing when possible (see Policy Guidelines), may be considered medically necessary for the evaluation of unexplained congenital or neurodevelopmental disorders in children when ALL of the following criteria are met:Documentation that the patient has been evaluated by a clinician with expertise in clinical genetics, including at minimum a family history and phenotype description, and counseled about the potential risks of genetic testing.

There is potential for a change in management and clinical outcome for the individual being tested.

A genetic etiology is considered the most likely explanation for the phenotype despite previous genetic testing (eg, chromosomal microarray analysis and/or targeted single-gene testing), OR when previous genetic testing has failed to yield a diagnosis, and the affected individual is faced with invasive procedures or testing as the next diagnostic step (eg, muscle biopsy).

Rapid whole exome sequencing or rapid whole genome sequencing, with trio testing when possible (see Policy Guidelines), may be considered medically necessary for the evaluation of critically ill infants in neonatal or pediatric intensive care with a suspected genetic disorder of unknown etiology when BOTH of the following criteria are met:

At least one of the following criteria is met:

Multiple congenital anomalies (see Policy Guidelines);

An abnormal laboratory test or clinical features suggests a genetic disease or complex metabolic phenotype (see Policy Guidelines);

An abnormal response to standard therapy for a major underlying condition;

None of the following criteria apply regarding the reason for admission to intensive care:

An infection with normal response to therapy;

Isolated prematurity;

Isolated unconjugated hyperbilirubinemia;

Hypoxic Ischemic Encephalopathy;

Confirmed genetic diagnosis explains illness;

Isolated Transient Neonatal Tachypnea; or

Nonviable neonates.

Whole exome sequencing is considered investigational for the diagnosis of genetic disorders in all other situations.

Whole genome sequencing is considered investigational for the diagnosis of genetic disorders in all other situations.

Whole exome sequencing and whole genome sequencing are considered investigational for screening for genetic disorders.


Molecular Markers in Fine Needle Aspirates of the Thyroid

For patients who have thyroid nodules without strong clinical or radiologic findings suggestive of malignancy in whom surgical decision making would be affected by test results the use of either of the following types of molecular marker testing or gene variant analysis in fine needle aspirates of thyroid nodules with indeterminate cytologic findings (ie, Bethesda diagnostic category III [atypia/follicular lesion of undetermined significance] or Bethesda diagnostic category IV [follicular neoplasm/suspicion for a follicular neoplasm]) may be considered medically necessary:Afirma® Genomic Sequencing Classifier; or

ThyroSeq®.

The use of any of the following types of molecular marker testing or gene variant analysis in fine needle aspirates of thyroid nodules with indeterminate findings (Bethesda diagnostic category III [atypia/follicular lesion of undetermined significance] or Bethesda diagnostic category IV [follicular neoplasm/suspicion for a follicular neoplasm]) or suspicious findings (Bethesda diagnostic category V [suspicious for malignancy]) to rule in malignancy to guide surgical planning for initial resection rather than a 2-stage surgical biopsy followed by definitive surgery may be considered medically necessary:

ThyroSeq;

ThyraMIR® microRNA/ThyGenX®;

Afirma BRAF after Afirma Genomic Sequencing Classifier; or

Afirma MTC after Afirma Genomic Sequencing Classifier.

Gene expression classifiers, genetic variant analysis, and molecular marker testing in fine needle aspirates of the thyroid not meeting criteria outlined above, including but not limited to use of RosettaGX Reveal and single-gene TERT testing, are considered investigational.


Gene Expression Profiling and Protein Biomarkers for Prostate Cancer Management

Use of gene expression analysis and protein biomarkers to guide management of prostate cancer is considered investigational in all situations.


Genetic Testing for Epilepsy

Genetic testing for genes associated with infantile- and early-childhood onset epilepsy syndromes in individuals with infantile- and early-childhood-onset epilepsy syndromes in which epilepsy is the core clinical symptom (see Policy Guidelines section) may be considered medically necessary if positive test results may:Lead to changes in medication management; AND/OR

Lead to changes in diagnostic testing such that alternative potentially invasive tests are avoided; AND/OR

Lead to changes in reproductive decision making.

Genetic testing for epilepsy is considered investigational for all other situations.


Genetic Testing for Diagnosis and Management of Mental Health Conditions

Genetic testing for diagnosis and management of mental health disorders is considered investigational in all situations, including but not limited to the following:To confirm a diagnosis of a mental health disorder in an individual with symptoms.

To predict future risk of a mental health disorder in an asymptomatic individual.

To inform the selection or dose of medications used to treat mental health disorders, including but not limited to the following medications:

selective serotonin reuptake inhibitors

selective norepinephrine reuptake inhibitors and serotonin-norepinephrine reuptake inhibitors

tricyclic antidepressants

antipsychotic drugs.

Genetic testing panels for mental health disorders, including but not limited to the Genecept Assay, STA2R test, the GeneSight Psychotropic panel, the Proove Opioid Risk assay, and the Mental Health DNA Insight panel, are considered investigational for all indications.


Carrier Screening for Genetic Diseases

Targeted Risk-Based Carrier ScreeningTargeted carrier screening for X-linked and autosomal recessive genetic diseases is considered medically necessary for members who are pregnant or are considering pregnancy and are at increased risk of having offspring with an X-linked or autosomal recessive disease when one of the following criteria is met:

One or both individuals have a first- or second-degree relative who is affected; OR

One individual is known to be a carrier; OR

One or both individuals are members of a population known to have a carrier rate that exceeds a threshold considered appropriate for testing for a particular condition.

AND all of the following criteria are met:

The natural history of the disease is well understood and there is a reasonable likelihood that the disease is one with high morbidity or early mortality in the homozygous or compound heterozygous state (see Policy Guidelines);

Alternative biochemical or other clinical tests to definitively diagnose carrier status are not available, or, if available, provide an indeterminate result or are individually less efficacious than genetic testing;

The genetic test has adequate clinical validity to guide clinical decision-making and residual risk is understood;

An association of the marker with the disorder has been established;

If targeted testing is performed by a panel, the panel meets the minimum number of recommended gene variants but does not exceed the maximum, as determined by professional clinical guidelines (see Policy Guidelines). Non-targeted panels can be used instead of targeted testing when the criteria for non-targeted carrier screening are met (see below);

Previous carrier screening or individual targeted gene testing for the gene variant(s) of interest has not been performed (see Policy Guidelines).

All targeted carrier screening not meeting any of the above criteria is considered not medically necessary.

First-degree relatives include a biological parent, brother, sister, or child; second-degree relatives include a biologic grandparent, aunt, uncle, niece, nephew, grandchildren, and half-sibling.

Non-Targeted Carrier Screening

Non-targeted carrier screening panels for autosomal recessive and X-linked genetic disorders may be considered medically necessary as an alternative to testing of individual genes (eg, SMN1 gene and CFTR gene) for members who are pregnant or are considering pregnancy at any risk level including high risk and average risk when all of the following criteria are met:

The natural history of each disease is well understood and there is reasonable likelihood that the disease is one with high morbidity or early mortality in the homozygous or compound homozygous state (see Policy Guidelines);

Alternative biochemical or other clinical tests to definitively diagnose carrier status are not available, or, if available, provide an indeterminate result or are individually less efficacious than genetic testing;

The genetic test has adequate clinical validity to guide clinical decision-making and residual risk is understood;

An association of the markers with the disorders has been established;

If testing is performed by a panel, the panel meets the minimum number of recommended gene variants but does not exceed the maximum, as determined by professional clinical guidelines (see Policy Guidelines);

Previous carrier screening has not been performed (see Policy Guidelines).

Non-targeted carrier screening panels are considered investigational in all other situations when above criteria are not met (see Policy Guidelines).


Gene Expression-Based Assays for Cancers of Unknown Primary

Gene expression profiling is considered investigational to evaluate the site of origin of a tumor of unknown primary, or to distinguish a primary from a metastatic tumor.


Genetic Testing for FMR1 Variants (Including X Syndrome)

Genetic testing for FMR1 variants may be considered medically necessary for the following patient populations:Individuals with characteristics of fragile X syndrome or a fragile X-associated disorder, including:
Individuals with intellectual disability, developmental delay, or autism spectrum disorder;
Women with primary ovarian insufficiency under the age of 40 in whom fragile X-associated primary ovarian insufficiency is        suspected;
Individuals with neurologic symptoms consistent with fragile X-associated tremor or ataxia syndrome.
Individuals who have a personal or family history of fragile X syndrome who are seeking reproductive counseling, including:
Individuals who have a family history of fragile X syndrome or a family history of undiagnosed intellectual disability;
Affected individuals or relatives of affected individuals who have had a positive cytogenetic fragile X test result who are               seeking  information on carrier status;
Prenatal testing of fetuses of known carrier mothers.

Genetic testing for FMR1 variants is investigational for all other uses.


Kras Mutation Analysis in Non-Small-Cell Lung Cancer

Analysis of somatic mutations of the KRAS gene is considered investigational as a technique to predict treatment non-response to anti-EGFR therapy with the tyrosine-kinase inhibitors erlotinib and the antiEGFR monoclonal antibody cetuximab in non-small-cell lung carcinoma.


Genetic Testing for Cardiac Ion Channelopathies

Long QT SyndromeGenetic testing to confirm a diagnosis of congenital long QT syndrome (LQTS) may be considered medically necessary when signs and/or symptoms of LQTS are present, but a definitive diagnosis cannot be made without genetic testing. This includes:
Individuals who do not meet the clinical criteria for LQTS (ie, those with a Schwartz score <4) but have a moderate-to-high pretest probability (see Policy Guidelines section) based on the Schwartz score and/or other clinical criteria. Genetic testing of asymptomatic individuals to determine future risk of LQTS may be considered medically necessary when at least one of the following criteria is met: A close relative (ie, first-, second-, or third-degree relative) with a known LQTS variant; or A close relative diagnosed with LQTS by clinical means whose genetic status is unavailable. Genetic testing for LQTS for all other situations not meeting the criteria outlined above, including but not limited to determining prognosis and/or directing therapy in patients with known LQTS, is considered investigational. Brugada Syndrome Genetic testing to confirm a diagnosis of Brugada syndrome (BrS) may be considered medically necessary when signs and/or symptoms consistent with BrS (see Policy Guidelines section) are present, but a definitive diagnosis cannot be made without genetic testing. Genetic testing of asymptomatic individuals to determine future risk of BrS may be considered medically necessary when patients have a close relative (ie, first-, second-, or third-degree relative) with a known BrS variant. Genetic testing for BrS for all other situations not meeting the criteria outlined above is considered investigational. Catecholaminergic Polymorphic Ventricular Tachycardia Genetic testing to confirm a diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) may be considered medically necessary when signs and/or symptoms of CPVT are present, but a definitive diagnosis cannot be made without genetic testing. Genetic testing of asymptomatic individuals to determine future risk of CPVT may be considered medically necessary when at least one of the following criteria is met: A close relative (ie, first-, second-, or third-degree relative) with a known CPVT variant; or A close relative diagnosed with CPVT by clinical means whose genetic status is unavailable. Genetic testing for CPVT for all other situations not meeting the criteria outlined above is considered investigational. Short QT Syndrome Genetic testing of asymptomatic individuals to determine future risk of short QT syndrome (SQTS) may be considered medically necessary when patients have a close relative (ie, first-, second-, or third-degree relative) with a known SQTS variant. Genetic testing for SQTS for all other situations not meeting the criteria outlined above is considered investigational.


Genetic Testing for Alzheimer Disease

Targeted genetic testing for a known familial variant in the presenilin (PSEN) genes or amyloid-beta precursor protein (APP) gene associated with autosomal dominant early-onset Alzheimer disease may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:The individual has a close relative (ie, first- or second-degree relative) with a known familial variant associated with autosomal dominant early-onset Alzheimer disease (see Policy Guidelines) AND

Results of testing will inform reproductive decision making.

Genetic testing for variants in presenilin (PSEN) genes or amyloid-beta precursor protein (APP) gene associated with autosomal dominant early-onset Alzheimer disease may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:

The individual has a family history of dementia consistent with autosomal dominant Alzheimer disease for whom the genetic status of the affected family members is unavailable AND

Results of testing will inform reproductive decision making.

Genetic testing for the risk assessment of Alzheimer disease in asymptomatic individuals is considered investigational in all other situations. Genetic testing includes but is not limited to, testing for the apolipoprotein E (APOE) epsilon 4 allele or triggering receptor expressed on myeloid cells 2 (TREM2).

Genetic testing to guide initiation or management of a U.S. Food and Drug Administration-approved amyloid-beta targeting therapy (eg, aducanumab) is considered investigational. Genetic testing includes but is not limited to, testing for the APOE epsilon 4 allele.


Pharmacogenomic and Metabolite Markers for Patients Treated With Thiopurines

One time genotypic or phenotypic analysis of thiopurine methyltransferase (TPMT) and nudix hydrolase (NUDT15) may be considered medically necessary in patients beginning therapy with azathioprine, mercaptopurine, or thioguanine OR in patients on thiopurine therapy with abnormal complete blood count results that do not respond to dose reduction.Genotypic and/or phenotypic analysis of the TPMT and NUDT15 genes is considered investigational in all other situations.

Analysis of the metabolite markers of azathioprine and mercaptopurine, including 6-methyl-mercaptopurine ribonucleotides and 6-thioguanine nucleotides, is considered investigational.


Biomarker Genes for Detection of Lymph Node metastases in Breast Cancer

Evaluation of biomarker genes is considered investigational for detection of lymph node metastases in patients with breast cáncer.


Novel Biomarkers in Risk Assessment and Management of Cardiovascular Disease

Measurement of novel lipid and non-lipid biomarkers (ie, apolipoprotein B, apolipoprotein AI, apolipoprotein E, low-density lipoprotein subclass, high-density lipoprotein subclass, lipoprotein [a], B-type natriuretic peptide, cystatin C, fibrinogen, leptin) is considered investigational as an adjunct to low-density lipoprotein cholesterol in the risk assessment and management of cardiovascular disease.


Genetic Testing for Familial Cutaneous Malignant Melanoma

Genetic testing for genes associated with familial cutaneous malignant melanoma or associated with susceptibility to cutaneous malignant melanoma is considered investigational.


Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer

The use of the 21-gene reverse transcriptase-polymerase chain reaction (RT-PCR) assay (ie, Oncotype DX) to determine recurrence risk for deciding whether to undergo adjuvant chemotherapy may be considered medically necessary in women with primary, invasive breast cancer meeting all of the following characteristics:unilateral tumor;

hormone receptor-positive (ie, estrogen receptor-positive or progesterone receptor-positive);

human epidermal growth factor receptor 2-negative;

tumor size 0.6 to 1 cm with moderate or poor differentiation or unfavorable features OR tumor size larger than 1 cm;

node-negative (lymph nodes with micrometastases [≤2 mm in size] are considered node-negative for this policy statement);

who will be treated with adjuvant endocrine therapy (eg, tamoxifen, aromatase inhibitors);

when the test result aids the patient in deciding on chemotherapy (ie, when chemotherapy is a therapeutic option); AND

when ordered within 6 months after diagnosis, because the value of the test for making decisions regarding delayed chemotherapy is unknown.

Use of EndoPredict, the Breast Cancer Index, MammaPrint, and Prosigna to determine recurrence risk for deciding whether to undergo adjuvant chemotherapy may be considered medically necessary in women with primary, invasive breast cancer with the same characteristics as considered medically necessary for Oncotype DX.

The use of the MammaPrint assay to determine recurrence risk for deciding whether to undergo adjuvant chemotherapy may be considered medically necessary in women with primary, invasive breast cancer meeting all of the following characteristics:

unilateral tumor;

hormone receptor-positive (ie, estrogen receptor-positive or progesterone receptor-positive);

human epidermal growth factor receptor 2-negative;

stage T1 or T2 or operable T3 at high clinical risk (see Policy Guidelines);

one to 3 positive nodes;

who will be treated with adjuvant endocrine therapy (eg, tamoxifen, aromatase inhibitors);

when the test result aids the patient in deciding on chemotherapy (ie, when chemotherapy is a therapeutic option); AND

when ordered within 6 months after diagnosis, because the value of the test for making decisions regarding delayed chemotherapy is unknown.

The Oncotype DX, EndoPredict, the Breast Cancer Index, MammaPrint, and Prosigna assays should only be ordered on a tissue specimen obtained during surgical removal of the tumor and after subsequent pathology examination of the tumor has been completed and determined to meet the above criteria (ie, the test should not be ordered on a preliminary core biopsy). The test should be ordered in the context of a physician-patient discussion regarding risk preferences when the test result will aid in making decisions regarding chemotherapy.

For patients who otherwise meet the above characteristics but who have multiple ipsilateral primary tumors, a specimen from the tumor with the most aggressive histologic characteristics should be submitted for testing. It is not necessary to test each tumor; treatment is based on the most aggressive lesion.

All other indications for the 21-gene RT-PCR assay (ie, Oncotype DX), EndoPredict, the Breast Cancer Index, MammaPrint, and Prosigna, including determination of recurrence risk in invasive breast cancer patients with positive lymph nodes, patients with bilateral disease, or to consider the length of treatment with endocrine therapy , are considered investigational.

Use of a subset of genes from the 21-gene RT-PCR assay for predicting recurrence risk in patients with noninvasive ductal carcinoma in situ (ie, Oncotype DX® Breast DCIS Score) to inform treatment planning after excisional surgery is considered investigational.

The use of BluePrint in conjunction with MammaPrint or alone is considered investigational.

The use of Insight TNBCtype to aid in making decisions regarding chemotherapy in women with triple-negative breast cancer is considered investigational.

Use of gene expression assays in men with breast cancer is considered investigational.


Genetic and Protein Biomarkers for the Diagnosis and Cancer Risk Assessment of Prostate Cancer

The following genetic and protein biomarkers for the diagnosis of prostate cancer are considered investigational:Kallikrein markers (eg, 4Kscore Test)

Prostate Health Index (phi)

HOXC6 and DLX1 testing (eg, SelectMDx)

PCA3, ERG, and SPDEF RNA expression in exosomes (eg, ExoDx Prostate IntelliScore)

Autoantibodies ARF 6, NKX3-1, 5′ -UTR-BMI1, CEP 164, 3′ -UTR-Ropporin, Desmocollin, AURKAIP-1, and CSNK2A2 (eg, Apifiny)

PCA3 testing (eg, Progensa PCA3 Assay)

TMPRSS:ERG fusion genes (eg, MyProstate Score)

Gene hypermethylation testing (eg, ConfirmMDx)

Mitochondrial DNA variant testing (eg, Prostate Core Mitomics Test)

PanGIA Prostate

Candidate gene panels.

Single nucleotide variant testing for cancer risk assessment of prostate cancer is considered investigational.


ALISIS DE LOS PATRONES PROTEOMICOS PARA IDENTIFICACION TEMPRA DEL CÁNCER DE OVARIO

La investigación de las bases genéticas del cáncer han sido intensas, pero las mutaciones genéticas no reflejan las complicadas interacciones entre células individuales, tejidos y órganos. Las proteínas son las unidades funcionales que representan las interacciones de los genes.Recientemente, se ha desarrollado mucho interés en el patrón de las proteínas asociadas a distintas malignidades. A este campo se le conoce como el de patrones proteómicos, a distinción de los genómicos.Los patrones proteómicos se definen como el estudio de todos los patrones de proteínas que se manifiestan dentro de un organismo como una función de tiempo, edad, estado físico y factores externos. En la investigación de cáncer, una aplicación ha sido la identificación de proteínas en distintos fluidos del cuerpo, tales como el suero que se asocian a un tipo de cáncer específico. Esencialmente la identificación de patrones de proteínas puede funcionar como un marcador del tumor similar en concepto al PSA o Ca-125.
El uso de patrones proteómicos en el suero para identificar cáncer de ovario es una de las primeras aplicaciones comerciales de proteómicos. Es el resultado de un esfuerzo conjunto del Instituto Nacional de Cáncer y el FDA, para desarrollar patrones proteómicos para el cernimiento y detección de cáncer.
El OvaCheck está basado en patrones proteómicos detectados en el suero que luego se analizan usando un espectrómetro de masa para identificar perfiles dentro de poblaciones de proteínas, en base de su tamaño y carga eléctrica. Este análisis contiene miles de datos que son sometidos a un sofisticado análisis computadorizado usando inteligencia artificial y algoritmos para identificar un patrón consistente con cáncer de ovario.
Política
El análisis de patrones proteómicos en el suero como cernimiento y detección de cáncer de ovario no se considera para pago. La Sociedad de Ginecólogos Oncólogos (SGO), en febrero de 2004, se manifestó al respecto y en su opinión el OvaCheck necesita más investigación que valide su efectividad antes de ofrecerle este producto al público. A junio de 2006 SGO no había cambiado su posición.
En relación a cáncer de próstata, a junio de 2007 no había estudios prospectivos adicionales que demostraran impacto en resultados clínicos utilizando patrones proteomicos.
En 2013 National Comprehensive Cáncer Network Guidelines tampoco abalan el uso de los patrones proteomicos.


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