Genomics|Genetic Testing|Guidelines

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Genetic Testing

Guidelines by Condition

Guidelines, Policies and Recommendations in Genomics

We provide on an ongoing basis an updated list of guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups. The list is arranged by topics, year of publication and recommending organization. The list may not include all relevant recommendations. The listing of the recommendations should not be construed as an endorsement by CDC.

Cancer

Guideline	Organization	Published
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D)	European Consortium "Care for CMMR-D" (C4CMMR-D)	2015
Referral indications for cancer predisposition assessment	American College of Medical Genetics and Genomics, National Society of Genetic Counselors	2015
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines	American Society of Clinical Oncology,European Society for Medical Oncology	2015
Genetic testing and management of individuals genetically at-risk of cutaneous melanoma	Expert group	2015
Lynch syndrome: A primer for urologists and panel recommendations	Expert group	2015
Updated UK Recommendations for HER2 assessment in breast cancer	National Coordinating Committee for Breast Pathology	2015
Biomarker testing in colorectal carcinoma - update	Spanish Society of Pathology, Spanish Society of Medical Oncology	2015
Endometrial cancer: a review and current management strategies: part I	Society of Gynecologic Oncology Clinical Practice Committee	2014
Genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).	American College of Medical Genetics and Genomics	2014
Collection and use of a cancer family health history for oncology providers	American Society of Clinical Oncology	2014
Disease management for patients with advanced human epidermal growth factor receptor 2-positive breast cancer and brain metastases	American Society of Clinical Oncology	2014
Systemic therapy for patients with advanced human epidermal growth factor receptor 2-positive breast cancer	American Society of Clinical Oncology	2014
Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/Internat	American Society of Clinical Oncology	2014
Human epidermal growth factor receptor 2 testing in breast cancer	American Society of Clinical Oncology,College of American Pathologists	2014
RAS testing of colorectal carcinoma	Association of Clinical Pathologists Molecular Pathology and Diagnostics Group	2014
Testing of ALK Gene Rearrangement in Lung Cancer	Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists	2014
Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers - 2014 update	European Group on Tumor Markers	2014
Guidance for laboratories performing molecular pathology for cancer patients	European Society of Pathology Task Force on Quality Assurance in Molecular Pathology	2014
Does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?	Evaluation of Genomic Applications in Practice and Prevention	2014
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era	Expert group	2014
Managing children with chronic myeloid leukaemia (CML): recommendations for the management of CML in children and young people up to the age of 18 years	International BFM Group (iBFM) Study Group Chronic Myeloid Leukaemia Committee	2014
Diagnosis and management of hereditary colorectal cancer - summarized from JSCCR Guidelines 2012 for the Clinical Practice of Hereditary Colorectal Cancer	Japanese Society for Cancer of the Colon and Rectum	2014
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014	National Comprehensive Cancer Network	2014
Diagnosis, treatment and follow-up of hairy cell leukaemia	SFH (French Society of Haematology)	2014
Guidelines for biomarker testing in metastatic melanoma: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.	Spanish Society of Pathology, Spanish Society of Medical Oncology	2014
Erlotinib for the first-line treatment of metastatic non-small cell lung cancer with epidermal growth factor receptor exon 19 deletions or exon 21 (L858R) substitution mutations	US Food and Drug Administration	2014
FDA approval summary: vemurafenib for treatment of unresectable or metastatic melanoma with the BRAFV600E mutation	US Food and Drug Administration	2014
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer	US Multi-society Task Force on colorectal cancer	2014
Summaries for patients: assessing the genetic risk for BRCA-related breast or ovarian cancer in women	US Preventive Services Task Force	2014
American College of Medical Genetics and Genomics technical standards and guidelines: Microarray analysis for chromosome abnormalities in neoplastic disorders	American College of Medical Genetics and Genomics	2013
Use of pharmacologic interventions for breast cancer risk reduction: American Society of Clinical Oncology clinical practice guideline.	American Society of Clinical Oncology	2013
Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology	Association for Molecular Pathology	2013
Evaluation of clinical validity and utility of actionable molecular diagnostic tests in adult oncology	Center for Medical Technology Policy	2013
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology	College of American Pathologists,International Association for the Study of Lung Cancer, Association for Molecular Pathology	2013
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists	Dutch Society for Clinical Genetics	2013
Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?	Evaluation of Genomic Applications in Practice and Prevention	2013
Canadian guideline on genetic screening for hereditary renal cell cancers	Kidney Cancer Research Network of Canada Genetics Initiative	2013
EGFR Mutation Testing in Lung Cancer	Korean Cardiopulmonary Pathology Study Group	2013
Clinical management of Lynch syndrome (HNPCC)	Mallorca Group	2013
EGFR-TK mutation testing in adults with locally advanced or metastatic non-small-cell lung cancer	National Institute for Health and Care Excellence	2013
Everolimus in combination with exemestane for treating advanced HER2-negative hormone-receptor-positive breast cancer after endocrine therapy	National Institute for Health and Care Excellence	2013
Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer	National Institute for Health and Care Excellence	2013
Familial breast cancer: summary of updated NICE guidance	National Institute for Health and Care Excellence	2013
Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat	National Institute for Health and Care Excellence	2013
Intraoperative tests (RD-100i OSNA system and Metasin test) for detecting sentinel lymph node metastases in breast cancer	National Institute for Health and Care Excellence	2013
Vemurafenib for treating locally advanced or metastatic BRAF V600 mutation-positive malignant melanoma	National Institute for Health and Care Excellence	2013
Risk assessment and genetic counseling for hereditary breast and ovarian cancer	National Society of Genetic Counselors	2013
Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2013	St Gallen International Breast Cancer Conference (2013) Expert Panel	2013
BRAF mutation testing algorithm for vemurafenib treatment in melanoma	UK Expert Panel	2013
BRCA-related Cancer: Risk Assessment, Genetic Counseling and Genetic Testing	US Preventive Services Task Force	2013
Breast Cancer: Medications for Risk Reduction	US Preventive Services Task Force	2013
Lung Cancer: Screening	US Preventive Services Task Force	2013
Levels of evidence and clinical utility of prognostic and predictive candidate brain tumor biomarkers	Vienna Comprehensive Cancer Center Central Nervous System Unit, Neurooncology Taskforce	2013
Management of patients with colon and rectal cancer	European Society for Medical Oncology	2012
Biomarker testing in colorectal carcinoma	Spanish Society of Pathology, Spanish Society of Medical Oncology	2012
UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour	United Kingdom National External Quality Assessment Service	2012
Screening for ovarian cancer	US Preventive Services Task Force	2012
Can tumor gene expression profiling improve outcomes in patients with breast cancer?	Evaluation of Genomic Applications in Practice and Prevention	2009
Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives	Evaluation of Genomic Applications in Practice and Prevention	2009
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results	International Agency for Research on Cancer (IARC) Unclassified Genetic Variants Working Group	2008
Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?	Evaluation of Genomic Applications in Practice and Prevention	2009