Skip directly to local search Skip directly to A to Z list Skip directly to navigation Skip directly to site content Skip directly to page options
CDC Home

Genetic Testing


Guidelines, Policies and Recommendations in Genomics

We provide on an ongoing basis the most 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

Table for 2013

Guideline Organization
Cancer
BRAF testing for melanoma treatment UK expert panel
Treating BRAF V600 positive melanoma National Institute for Health and Care Excellence
Clinical management of Lynch syndrome European expert panel
Counseling for hereditary breast and ovarian cancer National Society of Genetic Counselors
Evaluation of Clinical Validity and Clinical Utility of Actionable Molecular Diagnostic Tests in Adult Oncology Center for Medical Technology Policy
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
Familial breast cancer: summary of updated NICE guidance Evans DG, Graham J, O'Connell S, Arnold S, Fitzsimmons D.
Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology Study Group. Korean Cardiopulmonary Pathology Study Group
Health care provider recommendations for reducing cancer risks among women with a BRCA1 or BRCA2 mutation. Metcalfe K, Kim-Sing C, Ghadirian P, Sun P, Narod S.
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Menko FH, Aalfs CM, Henneman L, Stol Y, Wijdenes M, Otten E, Ploegmakers MM, Legemaate J, Smets EM, de Wert GM, Tibben A.
Intraoperative tests (RD-100i OSNA system and Metasin test) for detecting sentinel lymph node metastases in breast cancer (DG8) National Institute for Health and Care Excellence
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
Medications for Risk Reduction of Primary Breast Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement DRAFT U.S. Preventive Services Task Force
Testing in lung cancer for EGFR/ALK TK inhibitors
Testing in lung cancer for EGFR/ALK TK inhibitors

Testing in lung cancer for EGFR/ALK TK inhibitors
College of American Pathologists, International Association for the Study of Lung Cancer , Association for Molecular Pathology
EGFR testing in colorectal cancer Evaluation of Genomic Applications in Practice and Prevention
EGFR-TK mutation testing in adults with locally advanced or metastatic non-small-cell lung cancer National Institute for Health and Care Excellence
Screening for Lung Cancer: U.S. Preventive Services Task Force Recommendation Statement DRAFT U.S. Preventive Services Task Force
TA295 Breast cancer (HER2 negative, oestrogen receptor positive, locally advanced or metastatic) - everolimus (with an aromatase inhibitor): guidance National Institute for Health and Care Excellence
Use of Pharmacologic Interventions for Breast Cancer Risk Reduction: American Society of Clinical Oncology Clinical Practice Guideline American Society of Clinical Oncology
Venous Thromboembolism Prophylaxis and Treatment in Patients with Cancer: American Society of Clinical Oncology Practice Guideline Update American Society of Clinical Oncology

Pharmacogenomics

TPMT genotype and thiopurine dosing Clinical Pharmacogenetics Implementation Consortium
CYP2D6/CYP2C19 and dosing of antidepressants Clinical Pharmacogenetics Implementation Consortium
HLA-B genotype and allopurinol dosing  Clinical Pharmacogenetics Implementation Consortium
Testing/treatment HLA antibodies in transplantation Australian expert panel
General  
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Working Group
ACMG clinical laboratory standards for next-generation sequencing. American College of Medical Genetics and Genomics
Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories. Working group
Direct-to-consumer genetic testing

European Academies of Science Advisory Council and Federation of European Academies of Medicine

Early detection of prostate cancer: AUA Guideline. American Urological Association
Oversight of laboratory-developed tests American College of Medical Genetics and Genomics
Genetic counselling for presymptomatic testing UK expert group
Incidental findings in clinical genomics: a clarification. American College of Medical Genetics and Genomics
New Guidelines on Genetic Testing and Screening in Children Rizwan Hamid, MD, PhD, FAAP
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). ESHG Genetic Services Quality Committee
Realising the potential of stratified medicine The Academy of Medical Sciences
Stem cell research and therapy: the position of the National Society of Genetic Counselors. National Society of Genetic Counselors
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. European Society of Human Genetics

Specific conditions

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. American College of Medical Genetics and Genomics
Clinical genetics evaluation of autism American College of Medical Genetics and Genomics [PDF 367.45 KB]
Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update. Scott SA, Sangkuhl K, Stein CM, Hulot JS, Mega JL, Roden DM, Klein TE, Sabatine MS, Johnson JA, Shuldiner AR.
Clinical pharmacogenetics implementation consortium guidelines for hla-B genotype and carbamazepine dosing. Leckband SG, Kelsoe JR, Dunnenberger HM, George AL Jr, Tran E, Berger R, Müller DJ, Whirl-Carrillo M, Caudle KE, Pirmohamed M.
Clinical Pharmacogenetics Implementation Consortium Guidelines for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing. Caudle KE, Thorn CF, Klein TE, Swen JJ, McLeod HL, Diasio RB, Schwab M.
Evidence-based recommendations for the practical management of Familial Mediterranean Fever. Hentgen V, Grateau G, Kone-Paut I, Livneh A, Padeh S, Rozenbaum M, Amselem S, Gershoni-Baruch R, Touitou I, Ben-Chetrit E.
Fabry disease practice guidelines: recommendations of the national society of genetic counselors. National Society of Genetic Counselors
Familial hypercholesterolaemia (QS41) National Institute for Health and Care Excellence
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. Polish Lipid Expert Forum
MTHFR polymorphism testing American College of Medical Genetics and Genomics [458.84 KB]
Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors. National Society of Genetic Counselors
Genomic profiling to assess type 2 diabetes risk Evaluation of Genomic Applications in Practice and Prevention
Cardiovascular disease
Management of familial hypercholesterolemia New French Society of Atherosclerosis
Prenatal Testing
Offering prenatal diagnostic tests: European guidelines for clinical practice guidelines. Expert group
Prenatal testing options for chromosome aneuploidy National Society of Genetic Counselors
Noninvasive prenatal screening for fetal aneuploidy American College of Medical Genetics and Genomics
Prenatal/preconception expanded carrier screening American College of Medical Genetics and Genomics
Noninvasive prenatal testing National Society of Genetic Counselors

Newborn screening

Economic evaluation of newborn screening

Expert group

Newborn screening numbers on birth certificates Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

 

Table for 2012

Guideline Organization
Cancer
Clinical neuropathology practice guide 3-2013: levels of evidence and clinical utility of prognostic and predictive candidate brain tumor biomarkers. multidisciplinary neurooncology taskforce of the Vienna Comprehensive Cancer Center Central Nervous System Unit
Guidelines for biomarker testing in colorectal cancer SSP and SSMO
Screening for ovarian cancer U.S. Preventive Services Task Force
Molecular Genetics for gastrointestinal tumor United Kingdom National External Quality Assessment Service
Microarray chromosomal analysis in cancer American College of Medical Genetics and Genomics
Management of colorectal cancer European Society for Medical Oncology
Pharmacogenomics
SLCO1B1 testing in simvastatin-induced myopathy Clinical Pharmacogenetics Implementation Consortium
General
Clinical diagnostic genome sequencing Association for Molecular Pathology
Personalized genomic testing for disease risk The American Congress of Obstetricians and Gynecologists
Electronic family health history meaningful use US federal regulation
Gene patents US Supreme Court [PDF 149.15 KB]
Specific conditions
Genetic testing for inherited eye diseases American Academy of Ophthalmology
Cardiovascular disease
Evaluation and treatment of hypertriglyceridemia Endocrine Society Clinical Guidelines Subcommittee
Genetics and cardiovascular disease American Heart Association

 

Table for 2011

Guideline Organization
Specific conditions
Genetic counseling and testing for Alzheimer disease American College of Medical Genetics [PDF 590.77 KB], National Society of Genetic Counselors
Prenatal Testing
PGD/preimplantation genetic screening European Society for Human Reproduction and Embryology

 

 


 
  • Download Tables

Contact Us:
  • Centers for Disease Control and Prevention
    1600 Clifton Rd. Atlanta, GA 30333 USA
    800-CDC-INFO (800-232-4636)
  • Additional information for Public Health Genomics is available on our contact page.
  • Print
  • Download print version
USA.gov: The U.S. Government's Official Web PortalDepartment of Health and Human Services
Centers for Disease Control and Prevention   1600 Clifton Rd. Atlanta, GA 30333, USA
800-CDC-INFO (800-232-4636) TTY: (888) 232-6348 - Contact CDC–INFO
A-Z Index
  1. A
  2. B
  3. C
  4. D
  5. E
  6. F
  7. G
  8. H
  9. I
  10. J
  11. K
  12. L
  13. M
  14. N
  15. O
  16. P
  17. Q
  18. R
  19. S
  20. T
  21. U
  22. V
  23. W
  24. X
  25. Y
  26. Z
  27. #