These are practice guidelines relating to genetics published by:
- American Academy of Pediatrics-Committee on Genetics (AAP)
- American College of Medical Genetics and Genomics (ACMG)
- American Congress of Obstetricians and Gynecologists (ACOG)
- American Society of Clinical Oncology (ASCO)
- National Society of Genetic Counselors (NSGC)
- National Comprehensive Cancer Network (NCCN)
Many of these organizations also publish policy statements, which can be found on their websites.
Alphabetical Listing
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Achondroplasia
Title
Health supervision for children with achondroplasia
Copyright
2005, AAP
Publication
Pediatrics 116:3:771-83
Advanced Paternal Age
Title
Statement on guidance for genetic counseling in advanced paternal age
Copyright
2008, ACMG
Publication
Genet Med 10:6:457-60
Alzheimer Disease
Title
Copyright
2011, ACMG/NSGC
Publication
Genet Med 13:6:597-605
Autism Spectrum Disorders
Title
Copyright
2013, ACMG
Publication
Genet Med 15:5:399-407
Breast and Ovarian Cancer
Title
Genetic/Familial High-Risk Assessment: Breast and Ovarian
Copyright
NCCN V1.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Cancer Risk Assessment
Title
ACOG Committee Opinion No. 634: Hereditary Cancer Syndromes and Risk Assessment
Copyright
2015, ACOG
Publication
Obstet Gynecology 125:1006–26
Title
Copyright
2015, ACMG and NSGC
Publication
Genet Med 17:1:70-87
Title
Copyright
2012, NSGC
Publication
J Genet Couns 21:2:151-161
Carrier Screening
Title
ACMG position statement on prenatal/ preconception expanded carrier screening
Copyright
2013, ACMG
Publication
Genet Med 15:6:482-83
Title
ACOG Committee Opinion No. 469: Carrier screening for Fragile X syndrome
Copyright
2010, ACOG
Publication
Obstet Gynecol 116:4:1008-10
Title
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
Copyright
2001, ACOG
Updated 2011
Publication
Obstet Gynecol 117:4:1028-31
Title
Carrier Screening for spinal muscular atrophy
Copyright
2008, ACMG
Reaffirmed 2013
Publication
Genet Med 10:11:840-42
Title
Carrier screening in individuals of Ashkenazi Jewish descent
Copyright
2008, ACMG
Reaffirmed 2013
Publication
Genet Med 10:1:54-56
Title
Preconception and prenatal testing of biologic fathers for carrier status
Copyright
2006, ACMG
Reaffirmed 2013
Publication
Genet Med 8:2:134-35
Title
Copyright
2004, ACMG
Reaffirmed 2013
Publication
Genet Med 6:5:387-91
Title
Copyright
2014, NSGC
Publication
J Genet Couns 23:1:5-15
Title
Copyright
2015
Publication
Colorectal Cancer
Title
Copyright
NCCN V3.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Title
Copyright
NCCN V2.2013
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Title
Genetic/Familial High-Risk Assessment: Colorectal
Copyright
NCCN V1.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Title
Copyright
2014, ASCO
Publication
J Clin Oncol
e-pub ahead of print December 1st, 2014
Congenital Hypothyroidism
Title
Update of newborn screening and therapy for congenital hypothyroidism
Copyright
2006, AAP
Publication
Pediatrics 117:6:2290-2303
Consanguinity
Title
Copyright
2002, NSGC
Reaffirmed 2009
Publication
J Genet Couns 11:2:97-119
Cowden Syndrome
Title
Genetic/Familial High Risk Assessment: Breast and Ovarian
Copyright
NCCN V4.2013
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Cystic Fibrosis
See the Following:
Carrier Screening
Prenatal Diagnosis and Screening
Developmental Delay
Title
Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisions
Copyright
2013, ACMG
Publication
Genet Med 15:5:399-407
Title
American College of Medical Genetics and Genomics Guideline on the Cytogenetic Evaluation of the Individual with Developmental Delay or Mental Retardation
Copyright
2004, ACMG
Publication
Genet Med 7:9:650-654
Title
American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays
Copyright
2006, AAP
Publication
Pediatrics 117:6:2304-23161
Title
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
Copyright
2014, AAP
Publication
Pediatrics 134:3:e903-e918
Down Syndrome
Title
Health Supervision for Children With Down Syndrome
Copyright
2011, AAP
Publication
Pediatrics 128:2:393-406
Title
Copyright
2011, NSGC
Publication
J Genet Couns 20:5:432-41
Factor V
Title
Copyright
2001, ACMG
Reaffirmed 2006
Publication
Genet Med 3:2:139-48
Familial Adenomatous Polyposis
Title
Genetic/Familial High-Risk Assessment: Colorectal
Copyright
NCCN V1.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Fabry Disease
Title
Copyright
2002, NSGC
Revised 2013
Publication
J Genet Couns 22:5:555-64
Fragile X
See carrier screening
Title
Fragile X Syndrome: Diagnostic and Carrier Testing
Copyright
2004, ACMG
Publication
Genet Med 7:8:584-87
Title
Health Supervision for Children With Fragile X Syndrome
Copyright
2011, AAP
Publication
Pediatrics 127:5:994-1006
Title
Copyright
2012, NSGC
Publication
J Genet Couns 21:6:752-60
Genetic Testing
Title
Copyright
2016 ACMG
Publication
Genet Med doi:10.1038/gim.2016.190
Title
Copyright
2013, ACMG
Publication
Genet Med 15:11:901-9
Title
Copyright
2010, ACMG
Publication
Genet Med 12:11:742-45
Title
Technical report: ethical and policy issues in genetic testing and screening of children
Copyright
2013, ACMG/AAP
Publication
Genet Med 15:3:234-45
Title
Indications for Genetic Referral: A Guide for Healthcare Providers
Copyright
2007, ACMG
Publication
Genet Med 9:6:385-89
Title
Molecular Genetic Testing in Pediatric Practice: A Subject Review
Copyright
2000, AAP
Publication
Pediatrics 106:1494-97
Glycogen Storage Diseases
Title
Pompe Disease Diagnosis and Management Guideline
Copyright
2006, ACMG
Publication
Genet Med 8:5:267-88
Title
Glycogen Storage Disease Type III Diagnosis and Management Guidelines
Copyright
2010
Publication
Genet Med 12(7):446-63
Title
Copyright
2014, ACMG
Publication
Gene Med 16:11, online only
Hearing Loss
Title
Copyright
2014, ACMG
Publication
Genet Med 16:4:347-355
Hemihyperplasia
Title
Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
Copyright
2009, ACMG
Publication
Genet Med 11:220-22
Hemoglobinopathies
Title
ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy.
Copyright
2007, ACOG
Publication
Obstet Gynecol 109:1:229-37
Hereditary Breast and Ovarian Cancer Syndrome
Title
Copyright
2013, NSGC
Publication
J Genet Couns 22:2:155-63
Title
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome
Copyright
2009, ACOG
Publication
Obstet Gynecol 113:4:957-66
Title
Genetic/Familial High Risk Assessment: Breast and Ovarian
Copyright
NCCN V1.2014
Publication
*Free registration with the NCCN is required to view this guideline
Hereditary Hemorrhagic Telangiectasia
Intrauterine Growth Restriction
Title
ACOG Practice bulletin no. 134: fetal growth restriction
Copyright
2013, ACOG
Publication
Obstet Gynecol 121:5:1122-33
Juvenile Polyposis Syndrome
Title
Genetic/Familial High-Risk Assessment: Colorectal
Copyright
NCCN V1.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Lynch Syndrome
Title
Copyright
2012, NSGC/CGAICC
Publication
J Genet Couns 21:4:484-93
Title
Genetic/Familial High-Risk Assessment: Colorectal
Copyright
NCCN V 1.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Li Fraumeni
Title
Genetic/Familial High Risk Assessment: Breast and Ovarian
Copyright
NCCN V1.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Marfan Syndrome
Title
Evaluation of the adolescent or adult with some features of Marfan syndrome
Copyright
2011, ACMG
Publication
Genet Med 14:1:171-77
Title
Health Supervision for Children With Marfan Syndrome
Copyright
2013, AAP
Publication
Pediatrics 132:4:1059-72
Mental Retardation
See Developmental Delay
MTHFR Polymorphism Testing
Title
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Copyright
2013, ACMG
Publication
Genet Med 15:2:153-56
MUTYH-Associated Polyposis
Title
Genetic/Familial High-Risk Assessment: Colorectal
Copyright
NCCN V1.2014
Publication
e-publication
Neurofibromatosis
Title
Health Supervision for Children With Neurofibromatosis
Copyright
2008, AAP
Publication
Pediatrics 121:3:633-42
Title
Copyright
2007, NSGC
Reaffirmed 2009
Publication
J Genet Couns 16:3:387-407
Newborn Screening
Title
ACOG Committee Opinion No. 616: Newborn Screening and the Role of the Obstetrician-Gynecologist
Copyright
ACOG, 2015
Publication
Obstet Gynecology 125:256–60
Title
Newborn Screening ACT Sheets and Confirmatory Algorithms
Copyright
Ongoing, ACMG
Publication
Funded in part through MCHB/HRSA/HHS grant #U22MC03957
Title
Copyright
2006, AAP
Publication
Pediatrics 118:3:934-963
Title
Newborn Screening: Toward a Uniform Screening Panel and System
Copyright
2006, ACMG
Publication
Genet Med 8:5:Supplement
Neural Tube Defects
Title
Folic Acid for the Prevention of Neural Tube Defects
Copyright
1999, AAP
Publication
Pediatrics 104:2:325-27
Title
Copyright
2003, ACOG
Publication
Int J Gynaecol Obstet 83:1:123-33
Osteogenesis Imperfecta
Title
Genetic Evaluation of Suspected Osteogenesis Imperfecta (OI)
Copyright
2005, ACMG
Publication
Genet Med 8:6:383-88
Pedigree Nomenclature
Title
Copyright
2008, NSGC under review
Publication
J Genet Couns 17:5:424-33
Peutz-Jeghers Syndrome
Title
Genetic/Familial High-Risk Assessment: Colorectal
Copyright
NCCN V2.2014
Publication
e-publication
*Free registration with the NCCN is required to view this guideline
Phenylketonuria
Title
Copyright
2008, AAP
Publication
Pediatrics 122:2:445-49
Title
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Copyright
2014, ACMG
Publication
Genet Med 16:2:188-200
Title
Committee Opinion 636: Management of Women with Phenylketonuria
Copyright
2015, ACOG
Publication
Obstet Gyncology 125(6):1548-50
Pompe Disease
Title
Pompe Disease Diagnosis and Management Guideline
Copyright
2006, ACMG
Publication
Genet Med 8:5:267-88
Polyposis Syndromes
See colorectal cancer screening
Prader-Willi Syndrome
Title
Health Supervision for Children With Prader-Willi Syndrome
Copyright
2011, AAP
Publication
Pediatrics:128:2:393-06
Prenatal Diagnosis & Screening
Title
Copyright
2016
Publication
Title
ACOG Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy
Copyright
2015, ACOG
Publication
Obstet Gynecol 126 (3)
Title
Statement on noninvasive prenatal screening for fetal aneuploidy
Copyright
2013, ACMG
Publication
Genet Med 15:5:395-98
Title
Screening for fetal aneuploidy and neural tube defects
Copyright
2009, ACMG
Publication
Genet Med 11:818-21
Title
NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy
Copyright
2013, NSGC
Publication
J Genet Couns 22:1:4-15
Title
Practice Bulletin No. 88. Invasive prenatal testing for aneuploidy
Copyright
2007, ACOG
Publication
Obstet Gyncecol 110:6:1459-67
Title
ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities
Copyright
2007, ACOG
Publication
Obstet Gynecol 109:1:217-27
Title
Copyright
2001, ACOG
Publication
Obstet Gynecol 97:5 pt 1:suppl 1-12.
Title
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
Copyright
2009, ACMG
Publication
Genet Med 11:127-33
Recurrent Pregnancy Loss
Title
Copyright
2005, NSGC
Reaffirmed 2010
Publication
J Genet Couns 14:3:165-81
Title
Copyright
2002, ACOG
Publication
Int J Gynaecol Obstet 78:2:179-90.
Serrated Polyposis Syndrome
Short Stature
Title
ACMG practice guideline: Genetic evaluation of short stature
Copyright
2009, ACMG
Publication
Genet Med 11:465-70
Sickle Cell Disease
Title
Health Supervision for Children with Sickle Cell Disease
Copyright
2002, AAP
Publication
Pediatrics 109:3:526-35
Skeletal Dysplasia
See prenatal diagnosis and screening
See achondroplasia
Spinal Muscular Atrophy
See carrier screening
Stillbirth
Title
ACOG Practice Bulletin No. 102: management of stillbirth
Copyright
2009, ACOG
Publication
Obstet gynecol 113:3:748-61
Thrombophilia
Title
ACOG Practice Bulletin No. 138: Inherited thrombophilias in pregnancy.
Copyright
2013, ACOG
Publication
Obstet Gynecol 122:3:706-17
Turner Syndrome
Title
Health supervision for children with Turner syndrome
Copyright
2003,AAP
Publication
Pediatrics 111:3:692-702
Uniparental Disomy
Title
Copyright
2006, ACMG
Publication
e-publication
Williams Syndrome
Title
Health Care Supervision for Children with Williams Syndrome
Copyright
2001, AAP
Publication
Pediatrics 107:5:1192-1204