ACMG Statements and Guidelines

These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI).

These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.

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July 2017


Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Erin T Strovel, Tina M Cowan, Anna I Scott and Barry Wolf

Genet Med advance online publication, July 6, 2017; doi:10.1038/gim.2017.84



January 2017


Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics

ACMG Board of Directors

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.195

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

J. Daniel Sharer PhD, Olaf Bodamer MD, PhD, Nicola Longo MD, PhD, Silvia Tortorelli MD, PhD, Mirjam M.C. Wamelink PhD and Sarah Young PhD ; a Workgroup of the ACMG Laboratory Quality Assurance Committee

Genet Med advance online publication, January 5, 2017; doi:10.1038/gim.2016.203

Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

ACMG Board of Directors

Genet Med advance online publication, January 5, 2017; doi:10.1038/gim.2016.196


November 2016


Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia ScM, Kathy Adelman, Sherri J. Bale PhD, Wendy K. Chung MD, PhD, Christine Eng MD, James P. Evans MD, PhD, Gail E. Herman MD, PhD, Sophia B. Hufnagel MD, Teri E. Klein PhD, Bruce R. Korf MD, PhD, Kent D. McKelvey MD, Kelly E. Ormond MS, C. Sue Richards PhD, Christopher N. Vlangos PhD, Michael Watson PhD, Christa L. Martin PhD and David T. Miller MD, PhD ; on behalf of the ACMG Secondary Findings Maintenance Working Group

Genet Med advance online publication, November 17, 2016; doi:10.1038/gim.2016.190


July 2016


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

Anthony R. Gregg MD, MBA, Brian G. Skotko MD, MPP, Judith L. Benkendorf MS, Kristin G. Monaghan PhD, Komal Bajaj MD, Robert G. Best PhD, Susan Klugman MD and Michael S. Watson MS, PhD ; on behalf of the ACMG Noninvasive Prenatal Screening Work Group

Genet Med advance online publication, July 28, 2016; doi:10.1038/gim.2016.97

April 2016


Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities FREE

Linda D. Cooley MD, MBA, Cynthia C. Morton PhD, Warren G. Sanger PhD, Debra F. Saxe PhD and Fady M. Mikhail MD, PhD ; on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

Genet Med, 18: 643-648, advance online publication, April 28, 2016; doi:10.1038/gim.2016.51

Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities FREE

Fady M. Mikhail MD, PhD, Nyla A. Heerema PhD, Kathleen W. Rao PhD, Rachel D. Burnside PhD, Athena M. Cherry PhD and Linda D. Cooley MD, MBA ; on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

Genet Med, 18: 635-642, advance online publication, April 28, 2016; doi:10.1038/gim.2016.50

December 2015


Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics FREE

ACMG Board of Directors

Genet Med, 18: 207-208, advance online publication, December 17, 2015; doi:10.1038/gim.2015.190

July 2015


Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Board of Directors

Genet Med advance online publication, July 23, 2015; doi:10.1038/gim.2015.94


March 2015


Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

ACMG Board of Directors

Genet Med 17: 505-507; advance online publication, March 12, 2015; doi:10.1038/gim.2015.41


Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards PhD, Nazneen Aziz PhD, Sherri Bale PhD, David Bick MD, Soma Das PhD, Julie Gastier-Foster PhD, Wayne W. Grody MD PhD, Madhuri Hegde PhD, Elaine Lyon PhD, Elaine Spector PhD, Karl Voelkerding MD and Heidi L. Rehm PhD; on behalf of the ACMG Laboratory Quality Assurance Committee

Genet Med 17: 405-423; advance online publication, March 5, 2015; doi:10.1038/gim.2015.30


September 2014


American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Catherine W. Rehder PhD, Karen L. David MD, MS, Betsy Hirsch PhD, Helga V. Toriello PhD, Carolyn M. Wilson MS and Hutton M. Kearney PhD

Genet Med 15: 150-152; advance online publication, January 17, 2013; doi:10.1038/gim.2012.169


November 2014


ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

ACMG Board of Directors

Genet Med 17: 68-69; advance online publication, November 13, 2014; doi:10.1038/gim.2014.151


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

Heather Hampel MS LGC, Robin L. Bennett MS LGC, Adam Buchanan MS MPH, Rachel Pearlman MS LGC and Georgia L. Wiesner MD; for a Guideline Development Group of the American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and of the National Society of Genetic Counselors Practice Guidelines Committee

Genet Med 17: 70-87; advance online publication, November 13, 2014; doi:10.1038/gim.2014.147


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

Priya S. Kishnani MD, Stephanie L. Austin MS, MA, Jose E. Abdenur MD, Pamela Arn MD, Deeksha S. Bali PhD, Anne Boney MED RD, Wendy K. Chung MD PhD, Aditi I. Dagli MD, David Dale MD, Dwight Koeberl MD PhD, Michael J. Somers MD, Stephanie Burns Wechsler MD, David A. Weinstein MD MMSc, Joseph I. Wolfsdorf MB BCh and Michael S. Watson MS, PhD

Genet Med 16: e1; advance online publication, November 6, 2014; doi:10.1038/gim.2014.128


October 2014


ACMG Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Lora Bean PhD and Pinar Bayrak-Toydemir MD PhD; on behalf of the ACMG Laboratory Quality Assurance Committee

Genet Med 16: e2; advance online publication, October 30, 2014; doi:10.1038/gim.2014.146


March 2014


American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; for the Professional Practice and Guidelines Committee: Raye L. Alford, Kathleen S. Arnos, Michelle Fox, Jerry W. Lin, Christina G. Palmer, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Daryl A. Scott, Christine Yoshinaga-Itano

Genet Med 16: 347-355; advance online publication, March 20, 2014; doi:10.1038/gim.2014.2


December 2013


ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Madhuri Hegde PhD, Mathew Ferber PhD, Rong Mao PhD, Wade Samowitz MD and Arupa Ganguly PhD

Genet Med 16: 101-116; advance online publication, December 5, 2013; doi:10.1038/gim.2013.166


October 2013


ACMG statement on access to reproductive options after prenatal diagnosis

ACMG Board of Directors

Genet Med 15: 900; advance online publication, October 17, 2013; doi:10.1038/gim.2013.139


Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Scott Jerry Vockley MD PhD, Hans C. Andersson MD, Kevin M. Antshel PhD, Nancy E. Braverman MD, Barbara K. Burton MD, Dianne M. Frazier PhD MPH, John Mitchell MD, Wendy E. Smith MD, Barry H. Thompson MD and Susan A. Berry MD ; For the American College of Medical Genetics and Genomics Therapeutic Committee

Genet Med 16: 188-200; advance online publication, October 10, 2013; doi:10.1038/gim.2013.157

Article available in multiple languages:

Spanish | French | Turkish | German | Portuguese(Br) | Italian

Supplementary Materials available in multiple languages:

Spanish | French | Turkish | German | Portuguese(Br) | Italian

 

September 2013


ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Sarah T. South PhD, Charles Lee PhD, Allen N. Lamb PhD, Anne W. Higgins PhD and Hutton M. Kearney PhD; for the Working Group for the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

Genet Med 15: 901-909; advance online publication, September 26, 2013; doi:10.1038/gim.2013.129


August 2013


Points to consider for informed consent for genome/exome sequencing

ACMG Board of Directors

Genet Med 15: 748-749; advance online publication, August 22, 2013; doi:10.1038/gim.2013.94


July 2013


ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm PhD, Sherri J. Bale PhD, Pinar Bayrak-Toydemir MD PhD, Jonathan S. Berg MD, Kerry K. Brown PhD, Joshua L. Deignan PhD, Michael J. Friez PhD, Birgit H. Funke PhD, Madhuri R. Hegde PhD and Elaine Lyon PhD; for the Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee

Genet Med 15: 733-747; advance online publication, July 25, 2013; doi:10.1038/gim.2013.92


Incidental findings in clinical genomics: a clarification

American College of Medical Genetics and Genomics

Genet Med 15: 664-666; advance online publication, July 4, 2013; doi:10.1038/gim.2013.82


April 2013


ACMG position statement on prenatal/preconception expanded carrier screening

Wayne W. Grody MD PhD, Barry H. Thompson MD MS, Anthony R. Gregg MD, Lora H. Bean PhD, Kristin G. Monaghan PhD, Adele Schneider MD and Roger V. Lebo PhD

Genet Med 15: 482-483; advance online publication, April 25, 2013; doi:10.1038/gim.2013.47


ACMG statement on noninvasive prenatal screening for fetal aneuploidy

The Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics: Anthony R. Gregg, S.J. Gross, R.G. Best, K.G. Monaghan, K. Bajaj, B.G. Skotko, B.H. Thompson, M.S. Watson

Genet Med 15: 395-398; advance online publication, April 4, 2013; doi:10.1038/gim.2013.29


March 2013


Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

G. Bradley Schaefer MD and Nancy J. Mendelsohn MD; for the Professional Practice and Guidelines Committee

Genet Med 15: 399-407; advance online publication, March 21, 2013; doi:10.1038/gim.2013.32


Feburary 2013


Technical report: ethical and policy issues in genetic testing and screening of children

Laine Friedman Ross MD PhD, Howard M. Saal MD, Karen L. David MD MS and Rebecca R. Anderson JD MS and the American Academy of Pediatrics; American College of Medical Genetics and Genomics

Genet Med 15: 234-245; advance online publication, February 21, 2013; doi:10.1038/gim.2012.176


January 2013


Risk categorization for oversight of laboratory-developed tests for inherited conditions

Kristin G. Monaghan PhD, Judith Benkendorf MS, Athena M. Cherry PhD, Susan J. Gross MD, C. Sue Richards PhD, Vernon Reid Sutton MD and Michael S. Watson PhD a joint working group of the Laboratory Quality Assurance and the Professional Practice and Guidelines Committees of the American College of Medical Genetics and Genomics

Genet Genet Med 15: 314-315; advance online publication, January 24, 2013; doi:10.1038/gim.2012.178


ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Scott E. Hickey MD FACMG, Cynthia J. Curry MD FACMG and Helga V. Toriello PhD FACMG

Genet Med 15: 153-156; advance online publication, January 3, 2013; doi:10.1038/gim.2012.165


September 2012


Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy

Elaine Lyon PhD, FACMG, Julie Gastier Foster PhD, FACMG, Glenn E. Palomaki PhD, Victoria M. Pratt PhD, FACMG, Kristen Reynolds PhD, M. Fernanda Sábato MS, Stuart A. Scott PhD, FACMG and Patrik Vitazka MD, PhD ; A working group of the Molecular Genetics Subcommittee on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee

Genet Med 14: 990-1000; advance online publication, September 6, 2012; doi:10.1038/gim.2012.108


August 2012


Points to consider in the clinical application of genomic sequencing

ACMG Board of Directors

Genet Med 14: 759-761; doi:10.1038/gim.2012.74


January 2012


Evaluation of the adolescent or adult with some features of Marfan syndrome

Reed E. Pyeritz MD, PhD for the Professional Practice and Guidelines Committee, ACMG

Genet Med 14: 171-177; advance online publication, January 5, 2012; doi:10.1038/gim.2011.48


July 2011


Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

James T Mascarello, Betsy Hirsch, Hutton M Kearney, Rhett P Ketterling, Susan B Olson, Denise I Quigley, Kathleen W Rao, James H Tepperberg, Karen D Tsuchiya and Anne E Wiktor A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

Genet Med 13: 667-675; doi:10.1097/GIM.0b013e3182227295


June 2011


American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

Hutton M Kearney, Sarah T South, Daynna J Wolff, Allen Lamb, Ada Hamosh and Kathleen W Rao A Working Group of the American College of Medical Genetics

Genet Med 13: 676-679; advance online publication, June 15, 2011; doi:10.1097/GIM.0b013e31822272ac


American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera and Sarah T South A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

Genet Med 13: 680-685; advance online publication, June 15, 2011; doi:10.1097/GIM.0b013e3182217a3a


Technical standards and guidelines for spinal muscular atrophy testing

Thomas W Prior, Narasimhan Nagan, Elaine A Sugarman, Sat Dev Batish and Corey Braastad

Genet Med 13: 686-694; advance online publication, June 13, 2011; doi:10.1097/GIM.0b013e318220d5


May 2011


Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

Jill S Goldman, Susan E Hahn, Jennifer Williamson Catania, Susan Larusse-Eckert, Melissa Barber Butson, Malia Rumbaugh, Michelle N Strecker, J Scott Roberts, Wylie Burke, Richard Mayeux and Thomas Bird

Genet Med 13: 597-605; advance online publication, May 16, 2011; doi:10.1097/GIM.0b013e31821d69b8


Policy statement on folic acid and neural tube defects

Helga V Toriello for the Policy and Practice Guideline Committee of the American College of Medical Genetics

Genet Med 13: 593-596; advance online publication, May 5, 2011; doi:10.1097/GIM.0b013e31821d4188


April 2011


Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Raymond Y Wang, Olaf A Bodamer, Michael S Watson and William R Wilcox on behalf of the ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases

Genet Med 13: 457-484; advance online publication, April 15, 2011; doi:10.1097/GIM.0b013e318211a7e1


October 2010


Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Melanie Manning and Louanne Hudgins for the Professional Practice and Guidelines Committee

Genet Med 12: 742-745; advance online publication, October 18, 2010; doi:10.1097/GIM.0b013e3181f8baad


July 2010


Glycogen Storage Disease Type III diagnosis and management guidelines

Priya S Kishnani, Stephanie L Austin, Pamela Arn, Deeksha S Bali, Anne Boney, Laura E Case, Wendy K Chung, Dev M Desai, Areeg El-Gharbawy, Ronald Haller, G Peter A Smit, Alastair D Smith, Lisa D Hobson-Webb, Stephanie Burns Wechsler, David A Weinstein and Michael S Watson

Genet Med 12: 446-463; doi:10.1097/GIM.0b013e3181e655b6


June 2010


Technical standards and guidelines for the diagnosis of biotinidase deficiency

Tina M Cowan, Miriam G Blitzer and Barry Wolf A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

Genet Med 12: 464-470; doi:10.1097/GIM.0b013e3181e4cc0f


January 2010


Laboratory guideline for Turner syndrome

Daynna J Wolff, Daniel L Van Dyke and Cynthia M Powell A Working Group of the ACMG Laboratory Quality Assurance Committee

Genet Med 12: 52-55; doi:10.1097/GIM.0b013e3181c684b2


December 2009


Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities

Linda D Cooley, James T Mascarello, Betsy Hirsch, Peter B Jacky, P Nagesh Rao, Debra Saxe and Kathleen W Rao A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

Genet Med 11: 890-897; doi:10.1097/GIM.0b013e3181bb7808


November 2009


Screening for fetal aneuploidy and neural tube defects

Deborah A Driscoll and Susan J Gross for the Professional Practice Guidelines Committee

Genet Med 11: 818-821; doi:10.1097/GIM.0b013e3181bb267b


August 2009


Technical standards and guidelines: Prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements

Glenn E Palomaki, Jo Ellen S Lee, Jacob A Canick, Geraldine A McDowell and Alan E Donnenfeld for the ACMG Laboratory Quality Assurance Committee

Genet Med 11: 669-681; advance online publication, August 17, 2009; doi:10.1097/GIM.0b013e3181ad5246


June 2009


Technical standards and guidelines for myotonic dystrophy type 1 testing

Thomas W Prior on behalf of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee

Genet Med 11: 552-555; advance online publication, June 19, 2009; doi:10.1097/GIM.0b013e3181abce0f


April 2009


ACMG practice guideline: Genetic evaluation of short stature

Laurie H Seaver and Mira Irons on behalf of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee

Genet Med 11: 465-470; advance online publication, April 2, 2009; doi:10.1097/GIM.0b013e3181a7e8f8


March 2009


Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

Carol L Clericuzio and Rick A Martin

Genet Med 11: 220-222; doi:10.1097/GIM.0b013e31819436cf


February 2009


Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Deborah Krakow, Ralph S Lachman and David L Rimoin

Genet Med 11: 127-133; doi:10.1097/GIM.0b013e3181971ccb


November 2008


Carrier screening for spinal muscular atrophy

Thomas W Prior for the Professional Practice and Guidelines Committee

Genet Med 10: 840-842; doi:10.1097/GIM.0b013e318188d069


April 2008


ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

C Sue Richards, Sherri Bale, Daniel B Bellissimo, Soma Das, Wayne W Grody, Madhuri R Hegde, Elaine Lyon and Brian E Ward the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee

Genet Med 10: 294-300; doi:10.1097/GIM.0b013e31816b5cae


Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

G Bradley Schaefer and Nancy J Mendelsohn the Professional Practice and Guidelines Committee

Genet Med 10: 301-305; doi:10.1097/GIM.0b013e31816b5cc9


February 2008


Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin

David A Flockhart, Dennis O'Kane, Marc S Williams, Michael S Watson, David A Flockhart, Brian Gage, Roy Gandolfi, Richard King, Elaine Lyon, Robert Nussbaum, Dennis O'Kane, Kevin Schulman, David Veenstra, Marc S Williams and Michael S Watson On Behalf of the ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use

Genet Med 10: 139-150; doi:10.1097/GIM.0b013e318163c35f


Acylcarnitine profile analysis

Piero Rinaldo, Tina M Cowan and Dietrich Matern

Genet Med 10: 151-156; doi:10.1097/GIM.0b013e3181614289


January 2008


First trimester diagnosis and screening for fetal aneuploidy

Deborah A Driscoll and Susan J Gross for the Professional Practice and Guidelines Committee

Genet Med 10: 73-75; doi:10.1097/GIM.0b013e31815efde8


Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population

Kristin G Monaghan, Gerald L Feldman, Glenn E Palomaki and Elaine B Spector Ashkenazi Jewish Reproductive Screening Working Group the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee

Genet Med 10: 57-72; doi:10.1097/GIM.0b013e31815f6eac


Carrier screening in individuals of Ashkenazi Jewish descent

Susan J Gross, Beth A Pletcher and Kristin G Monaghan for the Professional Practice and Guidelines Committee

Genet Med 10: 54-56; doi:10.1097/GIM.0b013e31815f247c


September 2007


Use of array-based technology in the practice of medical genetics

Melanie Manning and Louanne Hudgins

Genet Med 9: 650-653; doi:10.1097/GIM.0b013e31814cec3a


Microarray analysis for constitutional cytogenetic abnormalities

Lisa G Shaffer, Arthur L Beaudet, Arthur R Brothman, Betsy Hirsch, Brynn Levy, Christa Lese Martin, James T Mascarello and Kathleen W Rao A Working Group of the Laboratory Quality Assurance Committee of the American College of Medical Genetics

Genet Med 9: 654-662; doi:10.1097/GIM.0b013e31814ce3d9


June 2007


Indications for genetic referral: a guide for healthcare providers

Beth A Pletcher, Helga V Toriello, Sarah J Noblin, Laurie H Seaver, Deborah A Driscoll, Robin L Bennett and Susan J Gross

Genet Med 9: 385-389; doi:10.1097/GIM.0b013e318064e70c


June 2006


Genetic evaluation of suspected osteogenesis imperfecta (OI)

Peter H Byers, Deborah Krakow, Mark E Nunes and Melanie Pepin

Genet Med 8: 383-388; doi:10.1097/01.gim.0000223557.54670.aa


May 2006


Pompe disease diagnosis and management guideline

Priya S Kishnani, Robert D Steiner, Deeksha Bali, Kenneth Berger, Barry J Byrne, Laura E Case, John F Crowley, Steven Downs, R Rodney Howell, Richard M Kravitz, Joanne Mackey, Deborah Marsden, Anna Maria Martins, David S Millington, Marc Nicolino, Gwen O’grady, Marc C Patterson, David M Rapoport, Alfred Slonim, Carolyn T Spencer, Cynthia J Tifft and Michael S Watson ACMG Work Group on Management of Pompe Disease

Genet Med 8: 267-288; doi:10.1097/01.gim.0000218152.87434.f3


February 2006


Preconception and prenatal testing of biologic fathers for carrier status

Beth A Pletcher and Maureen Bocian

Genet Med 8: 134-135; doi:10.1097/01.gim.0000200948.58427.e2


December 2005


American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Lisa G Shaffer on behalf of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee

Genet Med 7: 650-654; doi:10.1097/01.gim.0000186545.83160.1e


October 2005


Technical Standards and Guidelines: Molecular Genetic Testing for Ultra-Rare Disorders

Anne Maddalena, Sherri Bale, Soma Das, Wayne Grody and Sue Richards the ACMG Laboratory Quality Assurance Committee

Genet Med 7: 571-583; doi:10.1097/01.GIM.0000182738.95726.ca


Fragile X syndrome: Diagnostic and carrier testing

Stephanie Sherman, Beth A Pletcher and Deborah A Driscoll

Genet Med 7: 584-587; doi:10.1097/01.GIM.0000182468.22666.dd


September 2005


Section E6 of the ACMG technical standards and guidelines: Chromosome studies for acquired abnormalities

Betsy Hirsh, Arthur R Brothman, Peter B Jacky, Kathleen W Rao and Daynna J Wolff

Genet Med 7: 509-513; doi:10.1097/01.gim.0000177416.12323.58


July 2005


Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories

Elaine B Spector, Wayne W Grody, Carla J Matteson, Glenn E Palomaki, Daniel B Bellissimo, Daynna J Wolff, Linda A Bradley, Thomas W Prior, Gerald Feldman, Bradley W Popovich, Michael S Watson and C Sue Richards

Genet Med 7: 444-453; doi:10.1097/01.GIM.0000172641.57755.3A


May 2005


Technical standards and guidelines: Prenatal screening for Down syndrome

Glenn E Palomaki, Linda A Bradley and Geraldine A McDowell Down Syndrome Working Group ACMG Laboratory Quality Assurance Committee

Genet Med 7: 344-354; doi:10.1097/01.GIM.0000167808.96439.F3


Technical standards and guidelines: Prenatal screening for open neural tube defects

Linda A Bradley, Glenn E Palomaki and Geraldine A McDowell ONTD Working Group ACMG Laboratory Quality Assurance Committee

Genet Med 7: 355-369; doi:10.1097/00125817-200505000-00010


April 2005


Folic acid and neural tube defects

Helga V Toriello for the Professional Practice and Guidelines Committee

Genet Med 7: 283-284; doi:10.1097/00125817-200504000-00009


November 2004


Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy

Deborah A Driscoll the Professional Practice and Guidelines Committee

Genet Med 6: 540-541; doi:10.1097/00125817-200411000-00013


September 2004


Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Michael S Watson, Garry R Cutting, Robert J Desnick, Deborah A Driscoll, Katherine Klinger, Michael Mennuti, Glenn E Palomaki, Bradley W Popovich, Victoria M Pratt, Elizabeth M Rohlfs, Charles M Strom, C Sue Richards, David R Witt and Wayne W Grody

Genet Med 6: 387-391; doi:10.1097/01.GIM.0000139506.11694.7C


January 2004


ACMG Statement on Direct-to-Consumer Genetic Testing

American College of Medicine Genetics Board of Directors

Genet Med 6: 60; doi:10.1097/01.GIM.0000106164.59722.CE


Technical Standards and Guidelines for Huntington Disease Testing

Nicholas T Potter, Elaine B Spector and Thomas W Prior

Genet Med 6: 61-65; doi:10.1097/01.GIM.0000106165.74751.15


Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003

Robert E Grier, William A Gahl, Tina Cowan, Isa Bernardini, Geraldine A McDowell and Piero Rinaldo

Genet Med 6: 66-68; doi:10.1097/01.GIM.0000106163.35058.7D


September 2002


Standards and Guidelines for CFTR Mutation Testing

Carolyn Sue Richards, Linda A Bradley, Jean Amos, Bernice Allitto, Wayne W Grody, Anne Maddalena, Matthew J McGinnis, Thomas W Prior, Bradley W Popovich and Michael S Watson PhD

Genet Med 4: 379-391; doi:10.1097/00125817-200209000-00010


May 2002


Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

Genetic Evaluation of Congenital Hearing Loss Expert Panel

Genet Med 4: 162-171; doi:10.1097/00125817-200205000-00011


November 2001


Genetics and Managed Care: Policy Statement of the American College of Medical Genetics

Marc S Williams

Genet Med 3: 430-435; doi:10.1097/00125817-200111000-00010


Points to Consider in Preventing Unfair Discrimination Based on Genetic Disease Risk: A Position Statement of the American College of Medical Genetics

Michael S Watson and Carol L Greene

Genet Med 3: 436-437; doi:10.1097/00125817-200111000-00011


May 2001


Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Anne Maddalena, Carolyn Sue Richards, Matthew J McGinniss, Arthur Brothman, Robert J Desnick, Robert E Grier, Betsy Hirsch, Peter Jacky, Geraldine A McDowell, Bradley Popovich, Michael Watson and Daynna J Wolff

Genet Med 3: 200-205; doi:10.1097/00125817-200105000-00010


American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

Lisa G Shaffer, Noelle Agan, James D Goldberg, David H Ledbetter, John W Longshore and Suzanne B Cassidy

Genet Med 3: 206-211; doi:10.1097/00125817-200105000-00011


March 2001


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

Wayne W Grody, John H Griffin, Annette K Taylor, Bruce R Korf and John A Heit (ACMG Factor V Leiden Working Group)

Genet Med 3: 139-148; doi:10.1097/00125817-200103000-00009


Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

Wayne W Grody, Garry R Cutting, Katherine W Klinger, Carolyn Sue Richards, Michael S Watson and Robert J Desnick (Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG)

Genet Med 3: 149-154; doi:10.1097/00125817-200103000-00010


November 2000


Informed consent for medical photographs

Dysmorphology Subcommittee of the Clinical Practice Committee, American College of Medical Genetics

Genet Med 2: 353-355; doi:10.1097/00125817-200011000-00010


Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations

Test and Technology Transfer Committee

Genet Med 2: 356-361; doi:10.1097/00125817-200011000-00011


Genetics testing for colon cancer: Joint statement of the American College of Medical Genetics and American Society of Human Genetics

Joint Test and Technology Transfer Committee Working Group

Genet Med 2: 362-366; doi:10.1097/00125817-200011000-00012


Guidelines for expert witness testimony for the specialty of medical genetics

Social, Ethical and Legal Issues Committee, American College of Medical Genetics

Genet Med 2: 367-368; doi:10.1097/00125817-200011000-00013


September 2000


ACMG recommendations for standards for interpretation of sequence variations

ACMG Laboratory Practice Committee Working Group

Genet Med 2: 302-303; doi:10.1097/00125817-200009000-00009


July 2000


Tandem mass spectrometry in newborn screening

ACMG/ASHG Test and Technology Transfer Committee Working Group

Genet Med 2: 267-269; doi:10.1097/00125817-200007000-00011


March 2000


Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening

ACMG Board of Directors

Genet Med 2: 149-150; doi:10.1097/00125817-200003000-00006


July 1999


American College of Medical Genetics position statement on gene patents and accessibility of gene testing

ACMG Executive Committee

Genet Med 1: 237; doi:10.1097/00125817-199907000-00013


May 1999


Duty to re-contact

ACMG Social Ethical and Legal Issues Committee

Genet Med 1: 171-172; doi:10.1097/00125817-199905000-00010


November 1998


Statement on folic acid: fortification and supplementation

ACMG Executive Committe

Genet Med 1: 66; doi:10.1097/00125817-199811000-00025

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