InterQual Molecular Diagnostics Criteria Clinical Revisions

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1 InterQual Molecular Diagnostics Criteria Clinical s Review and Incorporation of Recent Medical McKesson Health Solutions is committed to keeping the InterQual product suite current and accurate. Criteria are continually reviewed and updated, with new editions of every product released at least annually. McKesson Health Solutions' staff of physicians, nurses, other licensed healthcare professionals, and its extensive array of primary care and specialty consultants participate in ongoing criteria revision as new medical information emerges. Each release of the criteria reflects a thorough review of new medical literature, society guidelines, current practice standards, and incorporation of expert clinical consultant and user feedback. Significant clinical and organizational changes are detailed below, with the rationale provided for these revisions. MHS Customer Hub The MHS Customer Hub ( provides interactive support, answers to commonly asked questions, and links to other resources. For a user ID and password, contact your MHS Customer Hub site administrator or MHScustomerhub@mckesson.com Organization and Features Although some revisions below apply to all criteria subsets, the revisions will only display in new criteria sets or in those that were updated this cycle. Criteria subsets that were not updated this cycle will be updated in the next revision cycle. New s Added Two new subsets, consisting of 18 new tests, have been added: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Prader-Willi Syndrome Testing Removed The subset HLA Genotyping for Transfusion or Transplantation was removed from available subsets because blood bank and transplantation programs utilize their own standardized criteria for testing. InterQual Molecular Diagnostics Clinical s Page 1 of 10

2 Changed to 2 s The criteria from subset BCR-ABL1 (Philadelphia Chromosome) was divided into 2 subsets by disease (CML and ALL) in order to make both subsets more user-friendly. The new subsets are: BCR-ABL1 and ABL KD Testing in Chronic Myelogenous Leukemia (CML) BCR-ABL1 and ABL KD Testing in Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL) Names Changed The names of the following subsets have been changed: Cystic Fibrosis (CF) is now: Cystic Fibrosis Transmembrane Regulator (CFTR) Disorders UroVysion TM is now: UroVysion Test Definition Changed The word "testing" has been removed from the choice "Preimplantation genetic diagnosis (PGD) testing" when the test type question is displayed as the first question in the criteria. Preimplantation genetic testing can include both preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Because PGS currently only applies to test subsets Trisomy 13, Trisomy 18, and Trisomy 21, "testing" was removed from PGD testing to make the testing type more accurate. Removed from PGD criteria The question "Female undergoing IVF" has been removed from some subsets that have criteria for PGD. The remaining subsets, which still use this question in the criteria, will be revised in upcoming revision cycles. opinion and evidence suggest a couple does not need to be infertile to undergo IVF for PGD; the IVF procedure may be performed solely to accomplish PGD. (Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril, (6): ; Pennings G, de Wert G, Shenfield F, et al., ESHRE Task Force on Ethics and Law 14: equity of access to assisted reproductive technology. Hum Reprod, (4): ; Robertson JA, Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. Hum Reprod, (3): ; Dayal MB and Zarec SM, Preimplantation Genetic Diagnosis: emedicine Obstetrics and Gynecology Available from: [cited Feb ]) Off-label Indications and Limited Evidence s The following is a note related to off-label drug indications and molecular testing associated with these drugs: "Evidence may support the off-label use of a drug for an indication not named in the testing criteria. Evidence may also support testing associated with a drug, regardless of the indication. However, unless the FDA has approved a drug for a particular indication, McKesson designates testing associated with this drug as Limited Evidence, requiring secondary review." Some subsets have been updated to reflect this change with an accompanying note. Others will be changed in upcoming revision cycles. Page 2 of 10

3 s BCR-ABL1 and ABL KD Testing in Chronic Myelogenous Leukemia (CML) BCR-ABL1 and ABL KD Testing in Chronic Myelogenous Leukemia (CML) Criteria for drug resistance testing were added to this subset. BCR-ABL1 and ABL KD Testing in Acute Lymphoblastic Leukemia (ALL) and BCR-ABL1 and KD Testing in Chronic Myelogenous Leukemia (CML) have been separated into two subsets. Drug resistance testing is defined as testing performed to identify or measure reduced effectiveness of a drug against a specific pathogen or cancer. Drug resistance testing criteria were added to provide more comprehensive criteria for ABL KD mutation analysis, which can identify mutations associated with varying degrees of secondary resistance to tyrosine kinase inhibitor drugs. (Hughes T, Deininger M, Hochhaus A, et al., Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood, (1): (V)) Separating the subsets makes it easier for the user to locate desired criteria and content. Page 3 of 10

4 BCR-ABL1 and ABL KD Testing in Chronic Myelogenous Leukemia (CML) changed from: Choose one: A. Initial BCR-ABL1 transcript level monitoring test after initiation of TKI therapy or change in TKI therapy B. Initial BCR-ABL1 transcript level monitoring test after hematopoietic stem cell transplantation C. No detectable BCR-ABL1 transcripts on most recent monitoring test D. < 1 log increase on most recent BCR-ABL1 transcript level monitoring test E. 1 log increase on most recent BCR-ABL1 transcript level monitoring test F. None of the above The indications for testing were reworded for clarity. BCR-ABL1 and ABL KD Testing in Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL) to: Choose one: A. Pretreatment baseline testing prior to start of first-line tyrosine kinase inhibitor (TKI) drug B. Initial test after initiation of new TKI therapy C. Initial test after hematopoietic stem cell transplantation D. No detectable BCR-ABL1 transcripts on most recent monitoring test E. < 1 log increase of BCR-ABL1 transcript levels on most recent test F. 1 log increase of BCR-ABL1 transcript levels on most recent test G. None of the above BCR-ABL1 and ABL KD Testing in Acute Lymphoblastic Leukemia (ALL) and BCR-ABL1 and KD Testing in Chronic Myelogenous Leukemia (CML) have been separated into two subsets. Separating the subsets makes it easier for the user to locate desired criteria and content. Page 4 of 10

5 BCR-ABL1 and ABL KD Testing in Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL) Chlamydia trachomatis Neisseria gonorrhea (CT NG) Chlamydia trachomatis Neisseria gonorrhea (CT NG) Chlamydia trachomatis Neisseria gonorrhea (CT NG) Cystic Fibrosis Transmembrane Regulator (CFTR) Disorders s for Quantitative reverse transcription polymerase chain reaction testing were designated Limited Evidence, additional review required. Timelines for test recommendations were removed. Testing guidelines have not been established for individuals with Ph+ ALL, a rare type of cancer. Although extrapolating from recommendations used to monitor individuals with CML is useful to an extent, most experts agree that testing may be performed more frequently. Because frequency of testing has not been clearly defined, a limited evidence recommendation for Quantitative reverse transcription polymerase chain reaction testing is designated to facilitate additional review. Restructuring of the clinical information This change was made to increase usability of the content and criteria. The following question was added: Choose all that apply: 1. History of previous chlamydial or gonorrheaic infection or other sexually transmitted disease (STD) 2. New or multiple sexual partners 3. Inconsistent condom use 4. Exchanges sex for money or drugs The following question was added: Choose all that apply: 1. Urethritis 2. Cervicitis 3. Pelvic inflammatory disease (PID) 4. Infertility 5. Ectopic pregnancy 6. Chronic pelvic pain The recommendation CFTR full sequencing analysis was added to the diagnostic criteria. To better define those individuals at an ongoing and increased risk for developing CT/NG infection. To better define those individuals at an ongoing and increased risk for developing CT/NG infection. Approximately 98% of classic Cystic Fibrosis (CF) is caused by mutations in the CFTR gene. This full sequence analysis will detect > 99% of those mutations. This analysis will not detect other types of mutations in the CFTR gene. (Moskowitz S, Chmiel JF, Sternen D, et al., CFTR- Related Disorders. Seattle, Washington: GeneTests; Available from: [cited Jan ]. (V); Johns Hopkins DNA Diagnostic Laboratory, Cystic Fibrosis - Gene Sequencing. Available from: [cited Jan ]. (NC)) Page 5 of 10

6 Cystic Fibrosis Transmembrane Regulator (CFTR) Disorders Cystic Fibrosis Transmembrane Regulator (CFTR) Disorders MammaPrint changed from: Choose one: A. Female age 61 B. Female < age 61 C. Male The recommendation "CFTR targeted mutation analysis by CVS" was added to the prenatal testing criteria for the indication "fetus with a diagnosed echogenic bowel." The recommendation "CFTR targeted mutation analysis by amniocentesis" was added to the prenatal testing criteria for the indication "fetus with a diagnosed echogenic bowel." to: Choose one: A. Female newly diagnosed with Stage I or II invasive breast cancer B. Male newly diagnosed with invasive breast cancer C. None of the above ("Newly diagnosed with Stage I or Stage II invasive breast cancer" was a separate indication in previous criteria.) MammaPrint The following question was added: Potential candidate for adjuvant systemic chemotherapy AND adjuvant endocrine therapy McKesson consultants agree that if the parents were not tested for CFTR gene mutations and if a fetus is diagnosed with echogenic bowel by ultrasound, testing for CFTR by targeted mutation analysis is recommended. McKesson consultants agree that if the parents were not tested for CFTR gene mutations and if a fetus is diagnosed with echogenic bowel by ultrasound, testing for CFTR by targeted mutation analysis is recommended. MammaPrint originally received 510K clearance from the U.S. Food and Drug Administration (FDA) for use in select women under the age of 61. Recently, that age limit has been lifted to 87. (U.S. Food and Drug Administration, 510K Summary Available from: [cited Feb ]. (NC)) However, because the study upon which that change was based is not available to evaluate, and because McKesson experts agree that the specific age of the individual is not as important as how test results will influence management of the patient, the amended age has not been included as strict criteria for testing. McKesson experts agree that the individual tested must be a potential candidate for adjuvant chemotherapy and adjuvant endocrine therapy--meaning, these treatments have not been ruled out based on factors such as age, comorbidities or personal preference. Page 6 of 10

7 MammaPrint The question, "Oncotype DX has been performed" has been added to further define criteria for MammaPrint testing. In one study, MammaPrint, Oncotype DX, the intrinsic subtypes, and the wound-response signature yielded concordant results in the risk stratification of patients. (Fan C, Oh DS, Wessels L, et al., Concordance among geneexpression-based predictors for breast cancer. N Engl J Med, (6): (III)) Multiple Endocrine Neoplasia 2 (MEN2) Multiple Endocrine Neoplasia 2 (MEN2) Multiple Endocrine Neoplasia 2 (MEN2) Added the following indication for predictive testing: Two affected family members with negative results of sequence analysis of the RET gene Added the following recommendation for diagnostic testing in individuals with suspected MEN2B: Targeted mutation analysis of RET gene (M918 in exon 16 and A883F in exon 15) Added the following recommendation for predictive testing: Linkage analysis Performing more than one of these tests does not provide more accurate or more informative results. (Burstein HS, I. D'Alessandro, HA. Sgroi, DC., Case : A 36-Year- Old Woman with Hormone-Receptor-Positive Breast Cancer. N Engl J Med, : (V)) Evidence indicates that linkage analysis is useful to clarify the genetic status of at-risk relatives for families in which a RET mutation has not been identified by direct DNA analysis. (Burke W, Genetic testing. N Engl J Med, (23): (V); Brandi ML, Gagel RF, Angeli A, et al., Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, (12): (V)) Recent reports indicate that more than 95% of individuals with MEN 2B have mutations at codon 918 in exon 16 or at codon 883 in exon 15. Consequently, targeted mutation analysis should be performed for these mutations first; if none of these mutations are found, comprehensive sequence analysis of the RET gene is recommended. (Kloos RT, Eng C, Evans DB, et al., Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid, (6): (IV)) Evidence indicates that linkage analysis is useful to clarify the genetic status of at-risk relatives for families in which a RET mutation has not been identified by direct DNA analysis. (Burke W, Genetic testing. N Engl J Med, (23): (V); Brandi ML, Gagel RF, Angeli A, et al., Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, (12): (V)) Page 7 of 10

8 Multiple Endocrine Neoplasia 2 (MEN2) Mycobacterium tuberculosis (Acid Fast Bacillus) Mycobacterium tuberculosis (Acid Fast Bacillus) Mycobacterium tuberculosis (Acid Fast Bacillus) Added the following recommendation for diagnostic testing in individuals with Hirschsprung disease: Targeted mutation analysis of RET gene (exon 10) Drug resistance testing criteria were added to the subset. The following indication was added to the screening testing criteria: Individuals who are HIV-positive The recommendation "Mycobacterium tuberculosis complex, NAA sequencing" was added as a test for drug resistance. Recent reports indicate that the most important clinical decision for Hirschsprung disease is whether they have an activating exon 10 mutation which would confer risk for MEN 2. (Kloos RT, Eng C, Evans DB, et al., Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid, (6): (IV)) The World Health Organization (WHO) has released recommendations for testing M.TB for drug resistance. (World Health Organization (WHO), Guidelines for the programmatic management of drug-resistant tuberculosis. Geneva, Switzerland: Available from: [cited Jan ]. (V); (Centers for Disease Control and Prevention, Drugresistant TB, Available from [cited Feb ](V)) McKesson consultants agree that individuals who are HIVpositive should be screened for Mycobacterium tuberculosis. The Centers for Disease Control and Prevention and World Health Organization have recommendations for drug resistant testing that include M TB complex, NAA sequencing. This test detects TB resistant to the front-line antibiotics for MTB. (Richter E, Rusch-Gerdes S and Hillemann D, Drug-susceptibility Testing in TB: Current Status and Future Prospects. Medscape, Business of Medicine; Available from: [cited Feb ] (V)) Page 8 of 10

9 Oncotype DX Breast Cancer Recurrence Changed from "Choose all that apply: Individual is a candidate for systemic chemotherapy Individual is a candidate for systemic tamoxifen Tumor is estrogen receptor (ER) positive" to "Potential candidate for adjuvant systemic chemotherapy AND adjuvant endocrine therapy." The term "endocrine therapy" replaced "tamoxifen therapy" to be more inclusive of other evidence-based treatment options for women with early stage breast cancer. Examples include aromatase inhibitors such as anastrazole, letrozole, and exemestane. (Verma S, Sehdev S, Joy A, et al., An updated review on the efficacy of adjuvant endocrine therapies in hormone receptor- positive early breast cancer. Curr Oncol, (Supplement 2):S1-S13. (V)) The term "adjuvant" was incorporated in order to better specify the timing of treatment. Oncotype DX Breast Cancer Recurrence Oncotype DX Breast Cancer Recurrence Oncotype DX Breast Cancer Recurrence The following question was added: "Tumor is HER2 positive/tumor is HER2 negative" The following question was added: "Choose one: A. 0.6 to 1cm in diameter AND unfavorable features B. > 1cm in diameter C. None of the above" When a tumor is lymph node positive, and other criteria are met, a recommendation of Limited Evidence, additional review required has been added to the criteria. Previously, testing was not recommended for individuals with lymph node positive tumors meeting other established criteria. The question related to the hormonal status of the tumor was asked separately in order to improve the flow of the criteria. Evidence suggests Oncotype DX may help determine the benefit from adjuvant chemotherapy in women who have (among other characteristics) HER2-negative tumors. (National Comprehensive Cancer Network I, Breast Cancer Available from: [cited Jan ]. (IV)) Evidence suggests Oncotype DX may assist in determining possible benefit from adjuvant chemotherapy in tumors 0.6 to 1cm in diameter with unfavorable features or tumors > 1cm in diameter. (National Comprehensive Cancer Network I, Breast Cancer Available from: [cited Jan ]. (IV)) Oncotype DX testing has shown promise in women with lymph node-positive breast cancer. However, most experts agree that further studies are needed to validate these initial findings. (Cobleigh MA, Tabesh B, Bitterman P, et al., Tumor gene expression and prognosis in breast cancer patients with 10 or more positive lymph nodes. Clin Cancer Res, (24 Pt 1): (III); Dowsett M, Cuzick J, Wale C, et al., Risk of distant recurrence using Oncotype DX in postmenopausal primary breast cancer patients treated with anastrozole or tamoxifen: a TransATAC study. Presented at the San Antonio Breast Cancer Symposium, (V)) Page 9 of 10

10 Thiopurine Testing for Drug Response The following question was removed from the criteria: "Individual taking xanthine oxidase inhibitor drug." Although there is evidence to suggest certain medications can affect TPMT activity measured by phenotype testing, McKesson experts agree that this should not impact the choice of performing TPMT by genotyping or phenotyping. Page 10 of 10

Oncotype DX tools User Guide

Oncotype DX tools User Guide This guide provides an overview of the data and quick access to the Oncotype DX tools Oncotype DX tools offers two quantitative calculator tools that may be used together with