Review and Incorporation of Recent Medical Literature · PDF fileThis will occur whether the test that is fully recommended, ... Cardiovascular, ... Infectious Diseases, Inherited

InterQual® Molecular Diagnostics Criteria

2009.2 Clinical Revisions

Review and Incorporation of Recent Medical Literature 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. The Molecular Diagnostics Criteria are released quarterly with each release containing both new subsets as well as updates. 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 HubThe MHS Customer Hub (http://mhscustomerhub.mckesson.com) 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 [email protected]

New Molecular Diagnostic Subset Families 3 new subset families, consisting of 17 new tests, have been added in this release, as follows:

Marfan Syndrome PGDFRA Testing for Drug Response Spinal Muscle Atrophy (SMA)

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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.

Known Issue with Limited Evidence Change within CareEnhance® Review Manager In cases where two or more recommendations are given for a clinical scenario where one recommendation is based on Limited Evidence, the Review Summary yields Criteria Status = Not Met. This will occur whether the test that is fully recommended, or the Limited Evidence test, or both, are selected in the Primary Outcome screen. The scenario is present only in the BRACAnalysis® family. This issue will be addressed within a future release of Review Manager.

Review Process within CareEnhance® Review Manager The medical review process has been updated with a description of the new categories as well as a description of actions to take when the outcome is one or more recommendations combined with one or more limited evidence recommendations. The number and types of Categories have also been updated.

Categories changed within CareEnhance® Review Manager Two new categories of molecular diagnostic tests have been added. The categories now include All Categories, Cardiovascular, Hematology, Infectious Diseases, Inherited Disorders, Metabolic, Neurologic, Oncology, Pharmacogenomic, and Other. The Neurologic and Pharmacogenomic categories were added in this revision cycle. Change in messaging text when the outcome is recommendation plus LE recommendation within CareEnhance® Review Manager When a combination of one or more Limited Evidence recommendations and one or more recommendations that are not Limited Evidence are displayed on the Recommendation and Primary Outcome screens, the following text will appear:

• One or more of these tests are based on limited evidence and will require secondary medical review. These criteria have been developed to provide reviewers with a basis for proactively gathering and documenting patient specific clinical information that will

facilitate secondary medical review. The test(s) which is based on limited evidence is indicated with a special yellow note icon .

Added Rationale of Limited Evidence (LE) update Recommendations in some criteria subsets may have changed from “Current evidence does not support testing in this clinical scenario” to a Limited Evidence recommendation OR from the Limited Evidence recommendation to “Current evidence does not support testing in this clinical scenario.” In the context of rapidly evolving research in this area, McKesson is more stringently applying the definition surrounding conflicting or insufficient evidence to assure the appropriate recommendation is based on the preponderance of evidence. A new note now accompanies all Limited Evidence recommendations.


Limited Evidence note change Recommendations that are designated as Limited Evidence are accompanied by a new note, which is a result of discussion and consensus about the evolving state of the literature around molecular diagnostics:

“There is limited evidence to support this test, study, or service in this clinical scenario; therefore, authorization requires additional review. This test is designated as limited evidence based on one or more of the following:

• It is not standard of medical care.

• It requires further research (to examine long-term outcomes across varied patient populations).

• It requires further comparison studies (the new intervention compared to traditional or less invasive treatment of the condition).

• It is infrequently performed (replaced by a newer procedure or technology).

• It has the potential for serious complications or side effects.

• It has equivocal or limited benefit.

These criteria provide a basis for proactively gathering and documenting patient-specific clinical information, and include supporting medical evidence that will facilitate additional review.”

Standardized Preimplantation Genetic Diagnosis (PGD) questions and notes added: There is a standardized pathway for Preimplantation Genetic Diagnosis, which includes a question about in vitro fertilization (IVF) and another about family history of known mutations. The new questions may result in additional recommendations than in prior versions of the same criteria subset. There are two new informational notes, which accompany PGD recommendations:

• “At present, Preimplantation Genetic Diagnosis (PGD) is usually performed for fully penetrant, fatal, or seriously debilitating, early-onset diseases with few prospects for treatment. The use of PGD for lower penetrance, later-onset inherited conditions is an area of controversy, and there is no current consensus supporting it. (Krahn T, Preimplantation genetic diagnosis: Does age of onset matter (anymore)? Med Health Care Philos, 2009. 12(2):187-202. (V); Klitzman R, Appelbaum PS, Chung W, et al., Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. Reprod Biomed Online, 2008. 17 Suppl 1:33-42. (V))”

• “The ordering provider must specify in their laboratory order the specific mutation(s) and gene(s) to be tested. Testing procedures vary among labs so the provider should contact the performing lab for details.”

Standardized carrier testing criteria question and note added A standardized question has been developed for the carrier testing pathway:

• Choose one: 1. Planning a pregnancy 2. Pregnant female in early pregnancy 3. Reproductive partner of female in early pregnancy 4. None of the above

This new question in the carrier testing pathway is accompanied by the following note:


• Carrier testing is recommended before conception but can be performed during early pregnancy. If the woman is already pregnant, testing should be done in a timely fashion so that couples can decide to perform prenatal diagnostic testing between 10 and 20 weeks of gestation in case of positive results. (ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol, 2004. 104(2):425-428. (V); Gross SJ, Pletcher BA and Monaghan KG, ACMG Practice Guidelines: Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med, 2008. 10(1):54-56.(V))

Drug resistance testing added to test types and definitions “Drug resistance testing” has been added to the list of testing types in the testing types question. Depending on the criteria subset, this testing type may be displayed. Drug resistance testing is defined in the test definition note in the following way:

• Testing performed to identify or measure reduced effectiveness of a drug against a specific pathogen or cancer.

Elimination of “individual” Formatting style has been changed to remove the word "individual" where unnecessary, as the individual is clearly the person being tested. Where a family member is the individual being tested, that is mentioned explicitly. New language in diagnostic pathway In the diagnostic pathway, the following language is now being used: “Symptoms or findings consistent with…” This replaces the use of “suspected” or “clinically diagnosed with..” This change provides the criteria necessary in making the diagnosis of a particular condition before testing is considered or recommended. Abbreviations Most abbreviations are not explained in the test recommendations; however, their explanation is available in the Abbreviations and Symbols document within CareEnhance® Review Manager. Abbreviations are explained in notes and once at first mention in the text of the Clinical Evidence Summary.


Revisions

Subset Component Revised

Revision Rationale

BCR-ABL1 (Philadelphia Chromosome)

Guideline Removed: "testing" from guideline name Improved usability.


Question Added: Quantitative RT-PCR testing has been performed within past 3 months Removed: timeframe in recommendations.

Improved usability. Testing is indicated within a particular timeframe. This change allowed the user to arrive at correct recommendation based on when the most recent test was performed.


Question Added: Quantitative RT-PCR testing has been performed within past 6 months Removed: timeframe in recommendation.

Improved usability. Testing is indicated within a particular timeframe. This change allowed the user to arrive at correct recommendation based on when the most recent test was performed.


Question Changed: Initial BCR-ABL1 transcript level monitoring test after initiation of TKI therapy to: Initial BCR-ABL1 transcript level monitoring test after initiation of TKI therapy or change in TKI

Improved usability. This change clarifies that the indication refers to TKI, regardless of first- or second-line TKI therapy.

Bloom's Syndrome Question Changed: Choose one: 1. Both biological parents are carriers of 2281del6ins7 mutation in BLM gene 2. Father is a carrier and mother has Bloom's Syndrome with known 2281del6ins7 mutation in BLM gene 3. One biological parent is a carrier/diseased AND genetic testing of other parent is not feasible to: Choose one: 1. Both biological parents have an identified mutation 2. One biological parent has an identified mutation AND genetic testing of other parent is not feasible

Improved usability.

Bloom's Syndrome Answer Changed: Individual with suspected Bloom's Syndrome to: Diagnosed with Bloom's Syndrome

Improved usability.



Revision Rationale

Bloom's Syndrome Recommendation Changed in PGD pathway: Limited Evidence to: Bloom's Syndrome known family-specific mutation analysis

Limited Evidence (LE) update

Cancer Antigen 19-9 (CA 19-9)

Question Added in Monitoring testing pathway: Locally advanced or metastatic cancer

Improved usability.


Question Added in Monitoring testing pathway: Choose one: A. Before beginning of chemotherapy or radiotherapy B. During chemotherapy or radiotherapy in individual with initially elevated CA19-9 C. None of the above

Improved usability.


Question Added in Monitoring testing pathway: CA 19-9 testing has been performed ≥ 1 month ago

Improved usability.


Question Added in Monitoring testing pathway: After surgery

Improved usability.


Question Removed from Monitoring testing pathway: Choose one: 1. Initial evaluation before beginning treatment 2. Every 1-3 months during treatment in patients with initially elevated CA19-9 3. None of the above

Improved usability.


Question Added in Recurrence testing pathway: After surgery in individual with initially elevated CA 19-9

Improved usability.


Question Removed from Pancreatic cancer pathway: Individual has Lewis negative genotype (Le a-b-) Choose one: 1. Yes 2. No 3. Unknown

Change in Consensus Opinion: McKesson consultants agree that it is not a common practice to test for the Lewis genotype before ordering the CA 19-9 test. It is more practical to order the Lewis genotype assay only in a setting where there is clinical evidence of pancreatic cancer, but CA 19-9 is unexpectedly undetectable.



Revision Rationale


Question Changed the first question: Choose one: A. Prediction for recurrent cancer in patients after surgery B. Monitoring of patients with locally advanced or metastatic disease receiving chemotherapy or radiotherapy C. Screening for pancreatic cancer D. Diagnosis of pancreatic cancer E. Preoperative evaluation for resectability of pancreatic cancer F. None of the above to: Choose one: 1. Screening testing 2. Diagnostic testing 3. Monitoring testing 4. Recurrence testing 5. Preoperative evaluation for resectability

Improved usability.


Recommendation Changed in the gastric cancer, colon cancer, and pancreatic cancer in screening and diagnostic pathways: Limited Evidence to: Current evidence does not support testing in this clinical scenario



Guideline Added: Pathway for gallbladder cancer

New Literature: The updated NCCN guidelines recommend considering CA 19-9 testing for gallbladder cancer. (Cepheid Gets FDA Nod for MRSA and SA Molecular Diagnostic. Genetic Engineering & Biotechnology News (GEN); 2008 [cited 2008 Nov 6].)

Cancer Antigen 27.29 and 15-3 (CA 27.29 and CA 15-3)

Question Changed: Choose one: A. Initial evaluation before beginning treatment B. First 4-6 weeks of treatment C. Every 1-3 months during treatment D. None of the above to: Choose one: A. Initial evaluation B. During treatment C. None of the above

Improved usability.



Revision Rationale


Question Added in the monitoring pathway: First 4-6 weeks of treatment

Improved usability.


Question Added in the monitoring pathway: CA 27.29 or CA 15-3 testing has been performed ≥ 3 months ago

Improved usability.


Recommendation Changed in screening, diagnostic and recurrence pathways: Limited Evidence to Current evidence does not support testing in this clinical scenario



Recommendation Changed: Limited Evidence to: Current evidence does not support testing in this clinical scenario

Limited Evidence (LE) update.

Chlamydia trachomatis Neisseria gonorrhea (CT NG)

Guideline Changed: Most questions and pathways to: New guideline with new criteria and recommendations

Improved usability. Multiple questions were added to address more specific age and gender criteria in both screening and diagnostic pathways. Some recommendations that previously combined CT and NG in one test recommendation will now appear as separate tests. The screening pathways for males and females have been separated. Criteria for the testing of victims of sexual assault and STDs have been added. New literature. The indication of ocular chlamydia/gonorrhea was added in the updated algorithm. CT/NG DNA amplification via polymerase chain reaction (PCR) and CT/NG RNA amplification via NAAT are testing methodologies that are performed to diagnose ocular chlamydial or gonorrheal infection. (Yang JL, Hong KC, Schachter J, et al., Detection of Chlamydia trachomatis ocular infection in trachoma-endemic communities by rRNA amplification. Invest Ophthalmol Vis Sci, 2009. 50(1):90-94.)



Revision Rationale

Cystic Fibrosis (CF) Recommendation Changed: Cystic Fibrosis (CF) CFTR (Cystic Fibrosis (CF) transfer reactor) standard panel test (25 gene mutation) to: Cystic Fibrosis (CF) Transfer reactor (CFTR) targeted mutation analysis standard panel test

Improved usability. The recommendation name was changed because different laboratories test for different numbers of CFTR mutations in the recommended CF testing panel.

Cystic Fibrosis (CF) Recommendation Added in the diagnostic pathway: Cystic Fibrosis (CF) targeted mutation standard panel test

Change in consensus opinion. McKesson consultants agree that the test should be recommended in addition to the also recommended sweat test.

Cystic Fibrosis (CF) Recommendation Added in Diagnostic testing pathway for yes to Newborn with a positive or uninformative immunoreactive trypsinogen (IRT) test result: Cystic Fibrosis (CF) targeted mutation standard panel test

Change in consensus opinion. McKesson consultants agree that the test should be recommended in addition to the also recommended sweat test.

Cystic Fibrosis (CF) Answer Changed in prenatal testing of the fetus pathway: Choose one: 1. 10-12 weeks gestation 2. 15-20 weeks gestation 3. <10 weeks or >20 weeks gestation to: Choose one: 1. 10-12 weeks gestation 2. 15-20 weeks gestation 3. None of the above

Improved usability.

Cystic Fibrosis (CF) Recommendation Changed in Prenatal testing of fetus pathway: Cystic Fibrosis (CF) CVS (Chorionic villus sampling) gene mutation test to: Cystic Fibrosis (CF) (CF) Known family-specific gene mutation analysis by CVS

Improved usability.

Cystic Fibrosis (CF) Recommendation Changed in Prenatal testing of fetus pathway: Cystic Fibrosis (CF) Amniocentesis gene mutation test (amniotic fluid) to: Cystic Fibrosis (CF) (CF) Known family-specific gene mutation analysis by amniocentesis

Improved usability.



Revision Rationale

Cystic Fibrosis (CF) Recommendation Added in PGD pathway: Cystic Fibrosis (CF) Known family-specific mutation analysis

New literature. At present, Preimplantation Genetic Diagnosis (PGD) is usually performed for fully penetrant, fatal, or seriously debilitating, early-onset diseases with few prospects for treatment. The use of PGD for lower penetrance, later-onset inherited conditions is an area of controversy, and there is no current consensus supporting it. (Krahn T, Preimplantation genetic diagnosis: does age of onset matter (anymore)? Med Health Care Philos, 2009. 12(2):187-202); Klitzman R, Appelbaum PS, Chung W, et al., Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. Reprod Biomed Online, 2008. 17 Suppl 1:33-42)

Cystic Fibrosis (CF) Answer Added in Diagnostic pathway: Sweat test result is uninformative (borderline)

New literature. In the event that an individual's sweat test results are uninformative, or in the case where sweat testing is unavailable, molecular diagnostic testing for CF is recommended. (Moskowitz MD SM, Chmiel MD, James F.,Sternen MS CGC, Darci L.,Cheng MS MD, Edith,Cutting MD, Garry R. CFTR- Related Disorders. Seattle: University of Washing, Seattle; 2008 [cited 2008 Nov 12].)

Cytomegalovirus (CMV) Question Changed: Individual with planned organ or bone marrow transplant or donor to: Choose one: 1. Individual with planned organ transplant or bone marrow transplant 2. Organ transplant or bone marrow transplant donor

Improved usability.

Cytomegalovirus (CMV) Answer Added: "breast-fed infant" to: screening testing pathway indication containing "infant" only

Change in consensus opinion. McKesson consultants recommend adding "breast-fed infant" because that is the most common way a newborn would acquire CMV.



Revision Rationale

Cytomegalovirus (CMV) Answer Added in the diagnostic testing pathway: Negative antibody test with continued symptoms

New literature and Change in consensus opinion. McKesson consultants agree that a negative result could occur within 2 weeks of original testing. If symptoms remain, retesting should be recommended. (ViraCor Lab. CMV Antiviral Resistance test [cited 2009 Jul 17] ; Medical News Today, ViraCor Laboratories Launches Fastest Available Cytomegalovirus Antiviral Resistance Test, [cited 2009 Jul 17])

Cytomegalovirus (CMV) Recommendation Removed: Cytomegalovirus Dried blood spot (DBS) Added: Cytomegalovirus (CMV) PCR

New literature and Change in consensus opinion. McKesson consultants recommend deleting the dried blood spot test because it is rarely used. The PCR test continues to be a key test. The Cytomegalovirus Antiviral Resistance test can be performed as gene sequence analysis after the PCR test or with it. This test provides information on 2 genes, UL 97 and UL 54 and if mutated, these can implicate ganciclovir, foscarnet, and cidofovir resistance. (ViraCor Lab. CMV Antiviral Resistance test [cited 2009 Jul 17] ; Medical News Today, ViraCor Laboratories Launches Fastest Available Cytomegalovirus Antiviral Resistance Test, [cited 2009 Jul 17])

Cytomegalovirus (CMV) Question Added: in prenatal pathway Pregnant with acute CMV infection

Change in consensus opinion. McKesson consultants agree that a pregnant woman with an acute CMV infection can infect the fetus and testing should be done by amniocentesis because 15% to 20% of fetuses can carry severe sequelae.

Cytomegalovirus (CMV) Recommendation Changed: Current evidence does not support testing in this clinical scenario to: Cytomegalovirus (CMV) PCR via amniocentesis

Change in consensus opinion. McKesson consultants agree that a pregnant woman with an acute CMV infection can infect the fetus and testing should be done by amniocentesis because 15% to 20% of fetuses can carry severe sequelae.

Cytomegalovirus (CMV) Answer Added: 2 indications to identify specific immunocompromised individuals

Improved usability.



Revision Rationale

Cytomegalovirus (CMV) Recommendation Added: Cytomegalovirus antiviral resistance test (Limited Evidence recommendation)

New literature and Change in consensus opinion. Statistics about this test are only available on the test lab's website. McKesson consultants state that the test is new and does not have specificity or sensitivity information yet. It is occasionally used by large transplant centers and rarely used as standard practice at this time. Therefore, it is a Limited Evidence recommendation. (Allice T et al, Valganciclovir as pre-emptive therapy for cytomegalovirus infection post-allogeneic stem cell transplantation: implications for the emergence of drug-resistant cytomegalovirus. Journal of Antimicrobial Chemotherapy, 2009. 63:600-608; Viracor Lab. CMV Antiviral Resistance test [cited 2009 Jul 17]; Medical News Today, ViraCor Laboratories Launches Fastest Available Cytomegalovirus Antiviral Resistance Test. [cited 2009 Jul 17])

Dilated Cardiomyopathy (DCM)

Recommendation Changed: Limited Evidence to: Current evidence does not support testing in this clinical scenario


Duchenne Becker Muscular Dystrophy (DBMD)

Question Added: Preimplantation genetic diagnosis (PGD) testing pathway

New literature. Although preimplantation genetic diagnosis for Duchenne muscular dystrophy is available, the protocol for testing remains in research. The difficulties have been in distinguishing female carrier embryos from non-carrier female embryos with deletion-type mutations. As a result, the risk of transmitting the DMD mutation to an offspring remains an issue. Recent studies suggest that using single cell multiple displacement amplification (MDA) and fluorescent PCR assay in PGD for female carriers with DMD will provide more accurate results. (Ren Z, Zeng HT, Xu YW, et al., Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification. Fertil Steril, 2009. 91(2):359-364.)


Question Added question to the Prenatal testing of fetus pathway: Biological parent or biological parent's sibling or mother have known DBMD mutation

Improved usability



Revision Rationale


Question Added question to the Prenatal testing of fetus pathway: Choose one: 1. 10-12 weeks gestation 2. 15-20 weeks gestation 3. None of the above.

Improved usability


Question Added: question to the Diagnostic pathway Choose all that apply: 1. Progressive muscle weakness of the legs and pelvis muscles 2. Loss of muscle mass (wasting) 3. Calf muscle enlargement 4. Positive Gower sign 5. Elevated creatinine kinase blood levels 6. Muscle biopsy indicates abnormal levels of dystrophin 7. None of the above.

Improved usability

Enterovirus Answer Changed to: Choose all that apply: 1. Suspected paralytic disease 2. Suspected central nervous system (CNS) involvement 3. Suspected myopericarditis (inflammation of the heart muscle and surrounding sac) 4. Suspected pleurodynia (inflammation of the lining of the lungs) 5. Suspected acute hemorrhagic conjunctivitis during outbreak 6. None of the above

Improved usability. Added definition in parentheses to assist user with complex medical terminology.

Enterovirus Question Changed: Pregnant female at near-term pregnancy (> 34 weeks) to: Pregnant female > 34 weeks' gestation

Improved usability.

Epstein-Barr Virus (EBV) Recommendation Changed: Epstein Barr Virus antibody to nuclear antigen to: Epstein-Barr (EB) virus, nuclear antigen (EBNA)

Improved usability. Change reflects decision to word this recommendation based on coding description

Epstein-Barr Virus (EBV) Recommendation Changed: Epstein Barr Virus antibody to early antigen to: Epstein-Barr (EB) virus, early antigen (EA)

Improved usability. Change reflects decision to word this recommendation based on coding description



Revision Rationale

Familial Dysautonomia (FD)

Answer Changed: Choose one: 1. Both biological parents are carriers 2. One biological parent is a carrier, another one has Familial Dysautonomia (FD) with known disease causing mutation to Both biological parents have an identified mutation

Improved usability.

Familial Dysautonomia (FD)

Answer Changed: Infant with suspected familial dysautonomia to: Infant with symptoms and findings consistent with familial dysautonomia

Improved usability.

Fanconi Anemia (FA) Answer Changed: Choose one: 1. Infant with symptoms and findings consistent with Fanconi Anemia (FA) 2. Child with symptoms and findings consistent with Fanconi Anemia (FA) 3. Adult with symptoms and findings consistent with Fanconi Anemia (FA) to: Symptoms and findings consistent with Fanconi Anemia (FA)

Improved usability.

Fanconi Anemia (FA) Question Changed: Choose one: 1. Both biological parents are carriers 2. One biological parent is a carrier, another one has Fanconi Anemia (FA) with known disease-causing mutation to: Both biological parents have an identified mutation

Improved usability.

Glycogen Storage Disease Type I (GSD1)

Recommendation Changed in PGD pathway: Limited Evidence to: Glycogen storage disease type I known family-specific mutation analysis




Revision Rationale

Group A Beta-Hemolytic Streptococcus (GABHS) Pharyngitis

Answer Changed: Choose one: A.. Individual < age 18 with suspected beta-hemolytic streptococcus (GABHS) pharyngitis B. Individual ≥ age 18 years of age with suspected GABHS pharyngitis C. Asymptomatic individual of any age who completed course of antibiotic therapy for GABHS pharyngitis. D. None of the above. to: Choose one: A.. < age 18 with symptoms and findings consistent with Group A beta-hemolytic streptococcus (GABHS) pharyngitis B. ≥ age 18 years of age with symptoms and findings consistent with GABHS pharyngitis C. Asymptomatic AND completed course of antibiotic therapy for GABHS pharyngitis. D. None of the above.

Improved usability.

Group A Beta-Hemolytic Streptococcus (GABHS) Pharyngitis

Recommendation Removed: "on blood agar plate" from Throat culture recommendation.

Improved usability. Blood agar plate description moved to note.

Group B Streptococcus (GBS) Screening in Pregnancy

Recommendation Changed: Culture to: Rectal and vaginal culture

Improved usability. To clarify the specific type of culture recommended.

Group B Streptococcus (GBS) Screening in Pregnancy

Recommendation Changed: GBS Screening in Pregnancy RT-PCR to: GBS Screening in Pregnancy real-time PCR

Improved usability. Clarification of type of PCR testing.

Hepatitis B Virus (HBV) Question Removed from Monitoring individuals not currently requiring antiviral therapy: Choose one: A. Every 3-6 months B. Every 6-12 months C. None of the above

Improved usability.



Revision Rationale

Hepatitis B Virus (HBV) Question Removed from Post-treatment monitoring: Choose one: 1. Every 1-3 months during first year after treatment 2. Every 6-12 months livelong 3. None of the above

Improved usability.

Hepatitis B Virus (HBV) Question Added to Post-treatment monitoring pathway: First year after treatment

Improved usability.

Hepatitis B Virus (HBV) Question Added to Monitoring without antiviral therapy pathway: ALT and HBV DNA testing has been performed ≥ 3 months ago

Improved usability.

Hepatitis B Virus (HBV) Question Added to Monitoring without antiviral therapy pathway: ALT and HBV DNA testing has been performed ≥ 1 month ago

Improved usability.

Hepatitis B Virus (HBV) Question Removed from Treatment monitoring pathway: Choose one: A. Selection of a candidate for treatment B. Every 3 to 6 months during treatment C. None of the above"

Improved usability.

Hepatitis B Virus (HBV) Question Added to Monitoring without antiviral therapy pathway and Treatment monitoring pathway: ALT, HBeAg, anti-HBe and HBV DNA testing has been performed ≥ 3 month ago

Improved usability.

Hepatitis B Virus (HBV) Question Added to post-treatment monitoring pathway: ALT, HBeAg, anti-HBe and HBV DNA testing has been performed ≥ 6 month ago

Improved usability.

Hepatitis B Virus (HBV) Question Added to Monitoring without antiviral therapy path First year of disease

Improved usability.

Herpes Simplex Virus (HSV)

Question Added: Choose one: A. Newborn of a mother who acquired genital herpes during the third trimester of pregnancy B. Immunocompromised C. None of the above

Improved usability.



Revision Rationale


Question Added: Diagnosed with: Choose all that apply: 1. Encephalitis 2. Meningitis 3. Disseminated HSV infection 4. None of the above

Improved usability.


Question Added in the Diagnostic pathway: Mucocutaneous lesions

Improved usability.


Question Added: Lesions are beginning to heal

Improved usability.


Question Added in the Diagnostic pathway: Choose one: 1. Positive HSV culture 2. Negative or equivocal HSV culture AND a high level of suspicion for HSV infection 3. Negative HSV cultures AND history of recurrent genital ulcer 4. HSV culture has not been performed

Improved usability.


Question Removed: Choose one: 1. Suspected genital or orolabial herpes 2. Suspected HSV in the Central Nervous System 3. Suspected neonatal HSV infection 4. Suspected HSV infection in immunocompromised individual 5. None of the above

Improved usability.


Question Removed: Choose one: A. Lesions are beginning to heal B. HSV culture is negative in patients with a high level of suspicion for HSV infection C. None of the above

Improved usability.


Recommendation Added: HSV culture

Improved usability.



Revision Rationale


Question Changed: Suspected clinical resistance for antiviral treatment of HSV infection to: Receiving HSV antiviral treatment AND: Choose one: 1. Lesions fail to decrease in size by one week of therapy 2. New lesions appear after 3-4 days of therapy 3. None of the above

Improved usability.

HLA Genotyping for Celiac Disease

Answer Added: "autism" to list of indications in Screening pathway

Improved usability. Testing for screening is not indicated in this population, but autism was moved from the note to the indication list.


Question Changed: Choose one: A. Individual with suspected Celiac disease B. Asymptomatic individual with positive IgA TTG or IgA EMA serology test results C. None of the above to Symptoms or findings suggestive of Celiac disease

Improved usability. Although the clinical information is essentially unchanged, changing this question allows for a more straightforward and shorter pathway.


Recommendation Added: HLA Celiac Disease Total IgA

Change in consensus opinion.

Hypertrophic Cardiomyopathy (HCM)

Question Removed: Asymptomatic relative of individual with clinically diagnosed hypertrophic cardiomyopathy (HCM)

Improved usability.


Question Removed: Individual has a first degree relative who intends to have genetic testing for HCM performed

Improved usability.


Question Changed: Individual with clinically diagnosed hypertrophic cardiomyopathy (HCM) to Diagnosed with hypertrophic cardiomyopathy (HCM) AND has a first degree relative who intends to perform genetic testing for HCM

Improved usability.



Revision Rationale

JAK2V617F Myeloproliferative Disorders

Answer Changed: A. Initial diagnostic test B. Repeat diagnostic test C. Evaluation of therapeutic response during or after treatment D. None of the above to: A. Diagnostic testing B. Monitoring testing

Improved usability.

JAK2V617F Myeloproliferative Disorders

Question Added: Pediatric acute lymphoblastic leukemia (ALL) to the indications.

New literature. Recent studies indicate JAK2V617F is associated with pediatric acute lymphoblastic leukemia (ALL). At this time, clinical trials are ongoing and emphasize a possible connection with an increased relapse rate. (Jancin B. JAK mutations in childhood leukemia identified as new therapeutic target 2009 [cited 2009 Jun 25])

MammaPrint® Question Added: "invasive" to: Newly diagnosed with Stage I or Stage II invasive breast cancer

Improved usability. The term was added to better specify the type of breast cancer indicated for testing and to standardize with other related guidelines.

MammaPrint® Answer Removed: Tumor sample is fresh, unfixed, and contains a minimum of 30% malignant cells

Improved usability. Content placed in note.

Maple Syrup Urine Disease (MSUD)

Recommendation Changed in screening pathway: Maple Syrup Urine Disease tandem mass spectrometry (MS/MS)-based amino acid profiling to: Maple Syrup Urine Disease tandem mass spectrometry amino acid profiling

Improved usability


Recommendation Changed in prenatal and PGD pathways: Limited Evidence to: Maple Syrup Urine Disease known family-specific mutation analysis




Revision Rationale


Question Changed: Choose one: 1. Newborn with suspected MSUD based on clinical symptoms or family history 2. Newborn with suspected MSUD based on ethnic background or family history 3. Newborn with suspected MSUD based on positive screening results 4. Infant or child with suspected MSUD based on clinical symptoms 5. None of the above to Choose one: 1. Newborn with symptoms and findings consistent with MSUD 2. Infant or child with symptoms and findings consistent with MSUD 3. Newborn with positive MSUD screening results 4. Asymptomatic newborn of Mennonite ancestry 5. Asymptomatic newborn with family history of MSUD 6. None of the above"

Improved usability.


Question Changed: Choose one: 1. Quantitative plasma amino acid profile is positive for MSUD 2. Quantitative plasma amino acid profile is negative for MSUD3. Quantitative plasma amino acid profile is equivocal 4. Quantitative plasma amino acid profile has not been performed to Choose one: Quantitative plasma amino acid profile 1. Positive for MSUD 2. Negative for MSUD 3. Equivocal 4. Has not been performed

Improved usability.

MTHFR Targeted Mutation Analysis for Methotrexate Response

Guideline Changed: Name of guideline: Methylenetetrahydrofolate Reductase (MTHFR) for Methotrexate Response to: MTHFR Targeted Mutation Analysis for Methotrexate Response

Improved usability: MTHFR is a more recognizable term; sensitivity changed to "response" to stay consistent with other similarly named guidelines.



Revision Rationale

MTHFR Targeted Mutation Analysis for Methotrexate Response

Question Changed initial question: Individual to begin methotrexate therapy for the following condition to: Individual is a candidate for methotrexate therapy for one of the following indications

Improved usability: The term indications is more inclusive.

OncotypeDX® Guideline Changed: Name of guideline OncotypeDX® to OncotypeDX® Breast Cancer Recurrence Test

Improved usability. To distinguish from upcoming OncotypeDX Colon Cancer Recurrence Test

OncotypeDX® Answer Added: Male newly diagnosed with invasive breast cancer

Improved usability. This indication was implied previously, and explained in a note attached to the None of the above EDNS recommendation. Since there is evolving evidence suggesting that testing may some day be indicated for males, this indication was separated to make it more visible.

OncotypeDX® Answer Added: Individual with multiple tumors:

Improved usability. This indication was added to further delineate which tumor types are eligible for testing. The test was validated on women with single tumors; most McKesson consultants agree that testing is not necessary on women who present with multiple tumors as this rare occurrence is usually an indication for systemic chemotherapy due to the risk of recurrence. (Paik S, Shak S, Tang G, et al., A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med, 2004. 351(27):2817- 2826.)

Pertussis (Bordetella) Question Removed: Individual has a clinical syndrome compatible with pertussis

Improved usability.

Staphylococcus aureus Question Added: Choose one: A. Undergoing hospital admission B. Admitted to hospital C. None of the above

Improved usability.

Staphylococcus aureus Question Added: Progression of infection despite antibiotics treatment for 24-48 hours

Improved usability.



Revision Rationale

Staphylococcus aureus Recommendation Changed: Staph aureus PCR for mecA gene to: S. aureus (MRSA) PCR

Improved usability.

Staphylococcus aureus Recommendation Added: S. aureus (MRSA/SA) PCR

New Literature. At the end of 2008, the FDA cleared a first PCR assay which can detect the presence of MRSA and other S. aureus strains. (Cepheid Gets FDA Nod for MRSA and SA Molecular Diagnostic. Genetic Engineering & Biotechnology News (GEN); 2008 [cited 2008 Nov 6].)

Staphylococcus aureus Recommendation Changed: Staph aureus latex agglutination test for penicillin binding protein 2a (PBP 2a) to: S. aureus latex agglutination test for penicillin binding protein 2a (PBP2a)

Improved usability.

Staphylococcus aureus Recommendation Changed: Staph aureus methicillin (oxacillin) susceptibility test culture to: S. aureus culture with susceptibility test

Improved usability.

Staphylococcus aureus Recommendation Removed: Staph aureus PCR

Improved usability.

Thiopurine Testing for Drug Response

Guideline Changed: TPMT to: Thiopurine Testing for Drug Response

Improved usability. A pathway was added to describe indications for metabolite testing related to thiopurine drugs.


Answer Added new indication in initial question: Receiving thiopurine drug therapy

Improved usability. A pathway was added to describe indications for metabolite testing for individuals already receiving thiopurine therapy.


Answer Added to the Initiating thiopurine pathway: Azathioprine (AZA) or 6-mercaptopurine (6-MP)

Improved usability. Provides specific therapy choices for testing in TPMT and metabolite testing pathways.


Question Changed: Individual taking drug that alters TPMT activity to: Individual taking xanthine oxidase inhibitor drug

Improved usability. Provides more specific guidance on class of drugs for which TPMT genotyping is preferred.



Revision Rationale


Recommendation Changed: Genotype testing to: Genotyping

Improved usability.


Recommendation Changed: TPMT enzyme activity measurement (phenotype) testing to: Thiopurine Testing for Drug Response enzyme activity measurement (phenotyping)

Improved usability.


Question Added: Choose one: Individual diagnosed with 1. Crohn's disease 2. Ulcerative colitis 3. None of the above



Question Added: Choose one: A. No clinical response to therapy B. Inadequate clinical response after > 3 months of therapy C. At increased risk for drug-induced toxicity D. None of the above



Recommendation Added: Thiopurine Testing for Drug Response 6-Thioguanine (6-TGN) level.



Recommendation Added: Thiopurine Testing for Drug Response 6-erythrocyte 6-Methylmercaptopurine (6-MMP) level


Topoisomerase II-alpha (TOP IIA) Testing for Anthracycline Response

Guideline Changed: Topoisomerase IIa (TOP2a) Testing to: Topoisomerase II-alpha (TOP2A) Testing for Anthracycline Response

Improved usability. Name change reflects convention to describe rationale for testing.


Documents

Review and Incorporation of Recent Medical Literature · PDF fileThis will occur whether the test that is fully recommended, ... Cardiovascular, ... Infectious Diseases, Inherited