HEALTHCARE OPERATIONS UTILIZATION PROTOCOLS 2005 PROCEDURE: General Genetic Disease Testing Created Date: 3/10/03

HEALTHCARE OPERATIONS UTILIZATION PROTOCOLS 2005
PROCEDURE:
General Genetic Disease Testing (GEN 001)
Created Date: 3/10/03
Approved for: Commercial, Medicare
Last Updated: 4/21/05
BACKGROUND
Genetic testing is covered when prior authorized and when all of the following is met:
• Such testing is prescribed following the patient’s history, physical examination and
pedigree analysis, genetic counseling, and completion of conventional diagnostic
studies, and definitive diagnosis remains uncertain and a genetic disease diagnosis is
suspected and
• The patient displays clinical features, or is at risk of inheriting the mutation in question
(presymptomatic); and
• The result of the test will directly impact the treatment being delivered to the member
INDICATIONS
When one of the following diagnoses is suspected (this list is not all-inclusive):
• Fragile X Syndrome
• Huntington's Disease
•
Cystic Fibrosis
•
Friedreich's ataxia
•
Familial Adenomatous
Polyposis Coli
•
Spinal Muscular Atrophy
•
Duchenne Muscular
Dystrophy
•
Myotonic Dystrophy
•
Prader-Willi Syndrome
•
Angelman Syndrome
•
Neurofibromatosis Type 1
•
Canavan disease
•
Hemochromatosis
•
Hemoglobin S and/or C **
•
Kennedy disease (SBMA)
•
Charcot-Marie-Tooth
•
Medullary Thyroid Carcinoma •
•
Dentatorubral-pallidoluysian
atrophy
•
Gaucher Disease
•
Neimann-Pick disease
•
Tay-Sachs
•
Von Hippel-Lindau syndrome •
Retinoblastoma
•
Hemoglobin E thalassemia ** •
Beta thalassemia**
CMAC 03/27/03, 2/19/04, 7/15/04, 4/21/05
NVCMQISC: 04/24/03
Classical Lissencephaly
•
Alpha thalassemia**
•
Albinism
•
Factor V Leiden mutation
•
Prothrombin 20210A
mutation
•
Hereditary Neuropathy with
Liability to Pressure Palsies
(HNPP)
•
Chronic myelogenous
leukemia
•
•
Acute leukemia lymphoid
Failure of sexual development
•
•
Acute leukemia myeloid
Genetic Disorders (Down ‘s
Syndrome) in a fetus
•
Acute leukemia
unclassified
•
Myelodysplasia
•
**Electrophoresis is the appropriate initial laboratory test for individuals judged to be at risk
for a hemoglobin disorder.
Familial Cancers: Counseling is recommended, and testing will be done if family history
indicates. (See list below)
Family Cancer Syndrome
Adenomatous polyposis
Ataxia-telangiectasia
Basal cell nevus
Bloom syndrome
Breast/ovarian (BRCA 1)
Breast/other (BRCA 2)
Carcinoid, familial
Carney syndrome
Chordoma
Colon (HNPCC)
Cowden syndrome
Esophagus, with tylosis
Fanconi’s anemia
Type of Cancer
Colon/rectum, liver, hepatoblastoma, small bowel,
stomach (gastric), thyroid, medulloblastoma
Breast cancer, pancreas, ACA, stomach (gastric),
endometrium, leukemias, Non Hodgins lymphomas,
glioma, medulloblastoma, basal cell
Ovaries, fibrosarcoma, medulloblastoma, basal cell
Breast cancer, colon/rectum, esophagus, cervix,
larynx, tongue, leukemias, Non Hodgkins lymphomas,
lung cancer, basal cell, squamous cell
Breast cancer, colon/rectum, prostate, ovaries
Breast cancer, colon/rectum, pancreas, ACA, prostate,
ovaries
Carcinoid
Adrenal cortical, pituitary, thyroid, testicle,
schwannoma
Chordoma
Biliary, colon/rectum, liver, hepatocellular, pancreas,
ACA, stomach (gastric), bladder, kidney, renal clear
cell, kidney, renal transitional, ureter, endometrium,
ovaries, glioma, sebaceous gland
Breast cancer, small bowel, thyroid
Esophagus
Liver, hepatocellular, cervix, leuemias, glioma,
2
These protocols are to be used as guidelines in the decision-making process and do not represent standards of
care of any individual patient. They are proprietary documents and may not be copied or distributed without
express permission
CMAC 03/27/03, 3/18/04, 7/15/04, 4/21/05
NVCMQISC: 04/24/03
Gastric cancer, familial
Hodgkin’s disease
Li-Fraumeni syndrome
Melanoma
Multiple endocrine neoplasia 1
Multiple endocrine neoplasia 2
Neurofibromatosis 1
Osteochondromatosis
Pancreatic cancer, familial
Paraganglioma, familial
Peutz-Jeghers syndrome
Prostate cancer, familial
Renal cancer, familial
Retinoblastoma
Rothmund-Thomson syndrome
Testicular carcinoma, familial
Tuberous sclerosis
Von Hippel-Lindau syndrome
Werner’s syndrome
Wilms’ tumor
medulloblastoma, squamous cell
Esophagus, stomach (gastric), tongue
Hodgkin’s disease
Breast cancer, pancreas, ACA, adrenal cortical,
prostate, testicle, germ cell, ovaries, larynx, leukemias,
Non Hodginks lymphomas, lung cancer,
osteosarcoma, rhabdomyosarcoma, soft tissue
sarcoma, glioma
Pancreas, ACA, glioma, malanoma
Adrenal cortical, APUDoma, carcinoid, pancreas, islet
cell, parathyroid, pheochromocytoma, pituitary,
schwannoma
Paraganglioma, parathyroid, pheochromocytoma,
pituitary, thyroid, medullary
Carcinoid, paraganglioma, pheochromocytoma, Wilms’
tumor, leukemias, rhabdomyosarcoma, acoustic
neuroma, glioma, meningioma, neuroblastoma,
schwannoma
Chondrosarcomas, osteosarcoma
Pancreas, ACA
Paraganglioma, pheochromocytoma
Breast cancer, colon/rectum, pancreas, ACA, small
bowel, stomach (gastric), testicle, cervix, ovaries
Prostate
Kidney, renal clear cell, kidney, renal papillary
Retinoblastoma, leukemias, Non Hodgkins
lymphomas, chondrosarcomas, fibrosarcoma,
osteosarcoma, soft tissue sarcoma, pinealblastoma,
melanoma
Osteosarcoma, squamous cell
Testicle, germ cell
Paraganglioma, thyroid, kidney, renal clear cell,
glioma
Pancreas, ACA, stomach (gastric), APUDoma,
carcinoid, pancreas, islet cell, paraganglioma, kidney,
renal clear cell
Breast cancer, liver hepatocellular, thyroid, leukemias,
osteosarcoma, rhabdomyosarcoma, soft tissue
sarcoma, basal cell, melanoma, squamous cell
Liver, hepatoblastoma, adrenal cortical, Wilms’ tumor,
germ cell, rhabdomyosarcoma, neuroblastoma
3
These protocols are to be used as guidelines in the decision-making process and do not represent standards of
care of any individual patient. They are proprietary documents and may not be copied or distributed without
express permission
CMAC 03/27/03, 3/18/04, 7/15/04, 4/21/05
NVCMQISC: 04/24/03
Xeroderma pigmentosum
Breast cancer, stomach (gastric), tongue, leukemias,
lung cancer, glioma, basal cell, melanoma, squamous
cell
RISKS
In the case of most genetic tests, the patient should be informed that the test might yield
information regarding a carrier or disease state that requires difficult choices regarding their
current or future health, insurance coverage, career, marriage, or reproductive options, thus
the individual has the right to decide whether to have a genetic test. This right includes the
right of refusal should the individual decide the potential harm outweighs the potential benefits.
COMMENTS
The current literature indicates that genetic tests for inherited disease need only be
conducted once per lifetime of the patient.
NON-COVERAGE
HPN Standard /Basic Plans (Small Group, Individual Conversion and IHMO)
BIBLIOGRAPHY:
Hayes Inc Online: Genetic carrier testing for cystic fibrosis. Hayes medical technology
directory. Updated on June 7, 2004. Accessed on 3/29/05 at:
http://www.hayesinconline.com/directory.
Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development
Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med. 1999; 159(14):
1529-1539.
Lindblom A, Nordenskjold M. Hereditary cancer. Acta Oncol. 1999; 38(4): 439-447
Peshkin BN, Lerman C. Genetic counseling for hereditary breast cancer. Lancet. 1999;
353(9171): 2176-2177.
Walsh A. Presymptomatic testing for Huntington's disease: the role of genetic counseling. Med
Health R I. 1999; 82(5): 168-170.
Oberstein L, Breuning MH, Haan J, et al. CADASIL. GeneReview. Seattle, WA: University of
Washington; 2002. http://www.geneclinics.org/profiles/cadasil/details.html (accessed March10,
2003).
Athena Diagnostics, Inc. CADASIL. NeuroCAST Sessions. Worcester, MA: Athena; 2002.
http://www.neurocast.com/site/content/sessions_12_2000.asp (accessed March 10, 2003).
4
These protocols are to be used as guidelines in the decision-making process and do not represent standards of
care of any individual patient. They are proprietary documents and may not be copied or distributed without
express permission
CMAC 03/27/03, 3/18/04, 7/15/04, 4/21/05
NVCMQISC: 04/24/03
American Society of Clinical Oncology. Statement of the American Society of Clinical
Oncology: Genetic testing for cancer susceptibility. Alexandria, VA: ASCO; 1997.
http://www.asco.org/prof/pp/html/m_ppgenetc.htm(accessed March 10, 2003)
Doherty RA. National Institutes of Health consensus development conference statement on
genetic testing for cystic fibrosis. J Med Screen. 1997;4(4):179-180. Chotai KA,
Payne SJ. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and
Angelman syndromes. J Med Genet. 1998;35(6):472-475.
5
These protocols are to be used as guidelines in the decision-making process and do not represent standards of
care of any individual patient. They are proprietary documents and may not be copied or distributed without
express permission
CMAC 03/27/03, 3/18/04, 7/15/04, 4/21/05
NVCMQISC: 04/24/03
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