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
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 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
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-B15:02 and HLA-A31:01 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