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Genetic Testing

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

 

Cardiovascular Disease


Guideline Organization Published
Diagnosis and treatment of familial hypercholesterolemia in Spain Consensus conference 2015
Management of patients with familial hypercholesterolemia Expert group 2015
Guidelines for the primary prevention of stroke: a statement for healthcare professionals American Heart Association, American Stroke Association 2014
Management of thoracic aortic disease Canadian Cardiovascular Society 2014
Homozygous familial hypercholesterolaemia: detection and management Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society 2014
Care of familial hypercholesterolaemia  International FH Foundation 2014
Management of familial hypercholesterolemia in children and adolescents Polish Lipid Expert Forum 2014
Familial hypercholesterolaemia - quality standard National Institute for Health and Care Excellence 2013
Diagnostic and treatment of familial hypercholesterolemia (FH) in adult New French Society of Atherosclerosis  2013
Management of familial heterozygous hypercholesterolemia Polish Lipid Expert Forum 2013
Genetics and cardiovascular disease: a policy statement from the American Heart Association American Heart Association 2012
Evaluation and treatment of hypertriglyceridemia Endocrine Society 2012
Genomic profiling to assess cardiovascular risk to improve cardiovascular health Evaluation of Genomic Applications in Practice and Prevention 2010

 

General


Guideline Organization Published
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists Canadian College of Medical Genetics 2015
Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing American College of Medical Genetics and Genomics 2015
Interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology American College of Medical Genetics and Genomics, Association for Molecular Pathology 2015
Genetic screening in the workplace American College of Occupational and Environmental Medicine 2015
Laboratory standards for next-generation sequencing clinical tests College of American Pathologists 2015
Informed consent for biobanking Consensus conference 2015
Position of the Academy of Nutrition and Dietetics: Nutritional genomics Academy of Nutrition and Dietetics 2014
Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board 2014
Prioritizing clinical genetic testing services Consensus conference 2014
Reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) European Society of Human Genetics Genetic Services Quality Committee 2014
Design, analysis and interpretation of 'omics' data: focus on human endometrium Expert group 2014
Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts Presidential Commission for the Study of Bioethical Issues 2014
Ethical and policy issues in genetic testing and screening of children American Academy of Pediatrics, American College of Medical Genetics and Genomics 2013
Clinical laboratory standards for next-generation sequencing American College of Medical Genetics and Genomics 2013
Incidental findings in clinical genomics: a clarification American College of Medical Genetics and Genomics 2013
Reporting of incidental findings in clinical exome and genome sequencing American College of Medical Genetics and Genomics 2013
Risk categorization for oversight of laboratory-developed tests for inherited conditions American College of Medical Genetics and Genomics 2013
Early detection of prostate cancer American Urological Association 2013
Establishment of core competencies for canadian genetic counsellors: validation of practice based competencies Canadian Association of Genetic Counsellors  2013
Use of next-generation sequencing applications in genome diagnostics Dutch Society for Clinical Genetic Laboratory Diagnostics 2013
Direct-to-consumer genetic testing for health-related purposes European Academies of Science Advisory Council, Federation of European Academies of Medicine 2013
Whole-genome sequencing in health care European Society of Human Genetics 2013
Criteria for the use of omics-based predictors in clinical trials: explanation and elaboration Expert group 2013
Informed consent for whole-genome sequencing studies in the clinical setting Expert group 2013
Stem cell research and therapy National Society of Genetic Counselors 2013
Direct-to-consumer genetic testing Southern African Society for Human Genetics  2013
Quality in genetic counselling for presymptomatic testing UK expert group 2013
Personalized genomic testing for disease risk American College of Obstetricians and Gynecologists 2012
Clinical diagnostic genome sequencing Association for Molecular Pathology 2012
Direct-to-consumer genetic testing for health-related purposes in the European Union European Academies Scientific Advisory Council 2012

 

Newborn Screening


Guideline Organization Published
Newborn screening and the role of the obstetrician-gynecologist American College of Obstetricians and Gynecologists 2015
Whole-genome sequencing in newborn screening European Society of Human Genetics, P3G International Paediatric Platform, Human Genome Organisation, PHG Foundation 2015
Appropriateness of newborn screening for α1-antitrypsin deficiency Alpha-1 Foundation 2014
Parental permission for pilot newborn screening research Bioethics and Legal Work Group of the Newborn Screening Translational Research Network 2014
Framework to start the debate on neonatal screening policies in the EU Expert group 2014
Newborn screening: education, consent, and the residual blood spot National Society of Genetic Counselors 2014
Including the initial newborn screening bloodspot collection device serial number on birth certificates Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children 2013
Assessing and improving the methodological quality of economic evaluations of newborn screening Expert group 2012

 

Pharmacogenomics


Guideline Organization Published
HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions Canadian Pharmacogenomics Network for Drug Safety Clinical Recommendation Group 2014
CYP2C9 and HLA-B genotypes and phenytoin dosing Clinical Pharmacogenetics Implementation Consortium 2014
Cytochrome P450 2D6 genotype and codeine therapy - 2014 update Clinical Pharmacogenetics Implementation Consortium 2014
HLA-B Genotype and Abacavir Dosing - 2014 update Clinical Pharmacogenetics Implementation Consortium 2014
IFNL3 (IL28B) genotype and PEG interferon-α-based regimens Clinical Pharmacogenetics Implementation Consortium 2014
Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process Clinical Pharmacogenetics Implementation Consortium 2014
Ivacaftor therapy in the context of CFTR genotype Clinical Pharmacogenetics Implementation Consortium 2014
Rasburicase therapy in the context of G6PD deficiency genotype Clinical Pharmacogenetics Implementation Consortium 2014
SLCO1B1 and simvastatin-induced myopathy - 2014 update Clinical Pharmacogenetics Implementation Consortium 2014
Testing and clinical management issues associated with HLA and non-HLA antibodies in transplantation Australian expert panel 2013
CYP2D6 genotyping for safe and efficacious codeine therapy Canadian Pharmacogenomics Network for Drug Safety Clinical Recommendation Group 2013
CYP2C19 genotype and clopidogrel therapy - 2013 update Clinical Pharmacogenetics Implementation Consortium 2013
CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants Clinical Pharmacogenetics Implementation Consortium 2013
Dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing Clinical Pharmacogenetics Implementation Consortium 2013
HLA-B genotype and carbamazepine dosing Clinical Pharmacogenetics Implementation Consortium 2013
Human leukocyte antigen-B genotype and allopurinol dosing Clinical Pharmacogenetics Implementation Consortium 2013
Thiopurine methyltransferase genotype and thiopurine dosing - 2013 update Clinical Pharmacogenetics Implementation Consortium 2013
SLCO1B1 and simvastatin-induced myopathy Clinical Pharmacogenetics Implementation Consortium 2012
Testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors Evaluation of Genomic Applications in Practice and Prevention 2007

 

Prenatal Testing


Guideline Organization Published
Carrier screening in reproductive medicine American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, Society for Maternal-Fetal Medicine 2015
Offering prenatal diagnostic tests  Expert group   2013
Noninvasive prenatal screening for fetal aneuploidy American College of Medical Genetics and Genomics 2013
Prenatal/preconception expanded carrier screening American College of Medical Genetics and Genomics 2013
Medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy European Society of Human Genetics, European Society of Human Reproduction and Embryology, European Union Eurogentest2 Coordination Action Project 2013
Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing Italian College of Fetal Maternal Medicine 2013
Noninvasive prenatal testing/noninvasive prenatal diagnosis National Society of Genetic Counselors 2013
Prenatal screening and diagnostic testing options for chromosome aneuploidy National Society of Genetic Counselors 2013
Organization of a PGD centre for PGD/preimplantation genetic screening European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium 2011

 

Specific Conditions


Guideline Organization Published
Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes American College of Gastroenterology 2015
Molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies European Molecular Genetics Quality Network 2015
Molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders European Molecular Genetics Quality Network 2015
Managing adults with 22q11.2 deletion syndrome Expert group 2015
Genetic diagnosis of familial Mediterranean fever Single Hub and Access point for pediatric Rheumatology in Europe 2015
Diagnostic genetic testing for Huntington's disease Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network  2015
Clinical evaluation and etiologic diagnosis of hearing loss American College of Medical Genetics and Genomics 2014
Diagnosis and management of glycogen storage disease type I American College of Medical Genetics and Genomics 2014
Phenylalanine hydroxylase deficiency: diagnosis and management  American College of Medical Genetics and Genomics 2014
Diagnosis and management of beryllium sensitivity and chronic beryllium disease American Thoracic Society 2014
Diagnosis and management of adult coeliac disease British Society of Gastroenterology 2014
Diagnosis and management of autosomal recessive polycystic kidney disease Consensus conference 2014
Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease ECD Global Alliance, Consensus conference 2014
Molecular diagnosis of Y-chromosomal microdeletions European Academy of Andrology, European Molecular Genetics Quality Network 2014
Diagnosis and management of chronic ataxias in adulthood European Federation of Neurological Societies, European Neurological Society 2014
The polycystic ovary syndrome: a position statement European Society of Endocrinology 2014
Diagnosis and treatment of Hunter Syndrome for clinicians in Latin America Expert group 2014
Management of sickle cell disease Expert group 2014
Diagnosis and Treatment of Dementia: recommendations for family physicians Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia 2014
Nutrition management of phenylalanine hydroxylase deficiency Genetic Metabolic Dietitians International, Southeast Regional Genetics Collaborative, and Diet Control and Management and Maternal PKU Workgroups from the National Institutes of Health Phenylketonuria Scientific Review Conference 2014
Nutrition management guideline for maple syrup urine disease Genetic Metabolic Dietitians International, Southeast Regional Newborn Screening and Genetics Collaborative 2014
Diagnosis and treatment of limb-girdle and distal dystrophies Guideline Development Subcommittee of the American Academy of Neurology,Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine 2014
Population-based carrier screening for cystic fibrosis Human Genetics Society of Australasia 2014
Primary immunodeficiency diseases: an update on the classification  International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2014
Diagnosis and management of mitochondrial disease Mitochondrial Medicine Society 2014
Molecular testing for cystic fibrosis carrier status National Society of Genetic Counselors 2014
Management of autosomal dominant polycystic kidney disease Spanish Working Group on Inherited Kidney Disease 2014
Diagnosis and management of hypertrophic cardiomyopathy Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology 2014
Diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology 2014
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions American College of Medical Genetics and Genomics 2013
Lack of evidence for MTHFR polymorphism testing American College of Medical Genetics and Genomics 2013
Standards and Guidelines for fragile X testing American College of Medical Genetics and Genomics 2013
Practical management of Familial Mediterranean Fever Consensus conference 2013
Diagnosis and treatment of polycystic ovary syndrome Endocrine Society 2013
Genomic profiling to assess type 2 diabetes risk Evaluation of Genomic Applications in Practice and Prevention 2013
Fabry disease National Society of Genetic Counselors 2013
Genetic testing of inherited eye diseases American Academy of Ophthalmology 2012
Genetic counseling and testing for Alzheimer disease American College of Medical Genetics and Genomics, National Society of Genetic Counselors 2011
Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members Evaluation of Genomic Applications in Practice and Prevention 2011
 

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