Practice Guidelines

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. This list is updated  several times a year, and may not be current. Officially retired practice guidelines are removed, but may appear inadvertently. If there are guidelines that you believe should be included or removed from this table, email wigeneticshub@waisman.wisc.edu.

Alphabetical Listing

This is an accordion element with a series of buttons that open and close related content panels.

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

Autism Spectrum Disorders

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

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors:  referral indications for cancer predisposition assessment

Copyright

2015, ACMG and NSGC

Publication

Genet Med 17:1:70-87


Title

Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors

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

Cystic Fibrosis population carrier screening: 2004 revision of American College of Medical Genetics and Genomics mutation panel

Copyright

2004, ACMG
Reaffirmed 2013

Publication

Genet Med 6:5:387-91


Title

Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Copyright

2014, NSGC

Publication

J Genet Couns 23:1:5-15


Title

Expanded Carrier Screening in Reproductive Medicine–Points to Consider:  a Joint Statement of the American College of Medical Genetics and Genomics, the American College of Obstetricians and Gynecologists, the National Society of Genetic Counselors, the Perinatal Quality Foundation, and the Society for Maternal-Fetal Medicine

Copyright

2015

Publication

Obstetrics & Gynecology
125:3 653–662

Colorectal Cancer

Title

Colon Cancer

Copyright

NCCN V3.2014

Publication

e-publication

*Free registration with the NCCN is required to view this  guideline


Title

Colorectal Cancer Screening

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

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

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

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

Factor V

Title

American College of Medical Genetics and Genomics Consensus Statement on Factor V Leiden Mutation Testing

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

Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

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

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Copyright

2012, NSGC

Publication

J Genet Couns 21:6:752-60

Genetic Testing

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

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Copyright

2014, ACMG

Publication

Gene Med 16:11, online only

Hearing Loss

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

Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors

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

e-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

Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline

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

Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

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

Newborn Screening Fact Sheets

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

ACOG practice bulletin. Neural tube defects. Number 44, July 20. (Replaces committee opinion number 252, March 2001).

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

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

Maternal Phenylketonuria

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

Noninvasive prenatal screening for fetal aneuploidy,  2016 update: a position statement of the American College of Medical Genetics and Genomics

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

ACOG Practice Bulletin No. 27: Clinical Management Guidelines for Obstetrician-Gynecologists. Prenatal diagnosis of fetal chromosomal abnormalities

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

Serrated Polyposis Syndrome

Title

Colorectal Cancer Screening

Copyright

NCCN V2.2013

Publication

e-publication

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

Williams Syndrome

Title

Health Care Supervision for Children with Williams Syndrome

Copyright

2001, AAP

Publication

Pediatrics 107:5:1192-1204