ACT Sheets and Algorithms

The ACMG ACT Sheets and their accompanying algorithms are a great resources for health care providers looking for information on genetic conditions (identified through newborn screening and beyond) to help inform clinical decision making. Developed by the American College of Medical Genetics and Genomics and the National Coordinating Center for the Regional Genetics Networks (NCC), ACMG ACT Sheets are available on the ACMG websites. Given the rarity of many genetic conditions—ACT Sheets and algorithms are excellent refreshers on the conditions, diagnoses, and next steps for patients. 

For each marker(s), there is 1) an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2) an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant.

The first page of the ACT sheets includes information developed by the ACT Sheet Workgroup. Each ACT Sheet also include links to informational resources to allow the health professional to obtain additional information, if needed. The second page of the ACT sheet includes links to web sites that allow one to identify sub-specialists for consultation and referral for the condition(s) described in the ACT Sheet.

Newborn Screening ACT Sheets and Algorithms

Carrier ACT Sheets and Algorithms

Condition	Analyte	ACT Sheet
Cystic Fibrosis	CF Mutations except R117H	PDF (2012)
Cystic Fibrosis	CF R117H	PDF  (2012)
Cystic Fibrosis	No Mutations Detected by Carrier Screening	PDF  (2012)
Ashkenazi Jewish Genetic Disorders	-	PDF  (2011)
Sickle Cell Carrier/Trait	-	PDF  (2012)
Spinal Muscular Atrophy	-	PDF (2012)

Diagnostic Test ACT Sheets

Condition	ACT Sheet
Muscular Dystrophy	PDF  (2012)
Fragile X Syndrome	PDF  (2012)

Family History ACT Sheets

Condition	ACT Sheet
Colon Cancer	PDF  (2012)

Prenatal Cell-Free DNA Screening ACT Sheets

Condition	ACT Sheet
45,X	PDF   (2021)
Trisomy 13	English Version; Spanish Version* (2020)
Trisomy 18	English Version; Spanish Version* (2020)
Trisomy 21	English Version; Spanish Version* (2020)

Secondary Findings ACT Sheets

Condition	Biomarker	ACT Sheet
Familial Adenomatous Polyposis	APC Pathogenic Variants	English Version (2019); Spanish Version^ (2020)
Familial Hypercholesterolemia	APOB, LDLR, PCSK9 Pathogenic Variants	English Version (2019); Spanish Version^ (2020)
Hereditary Breast and Ovarian Cancer	BRCA1 and BRCA2 Pathogenic Variants	English Version (2019); Spanish Version^ (2020)
Lynch Syndrome	MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants	English Version (2019); Spanish Version^ (2020)
Malignant Hyperthermia	RYR1 and CACNA1S Pathogenic Variants	English Version (2019); Spanish Version^ (2020)

Transition ACT Sheets

*"Time Critical" is a condition in which acute symptoms or potentially irreversible damage could develop in the first week of life, and for which early recognition and treatment can reduce risk of morbidity and mortality. Adapted from the Society of Inherited Metabolic Disorders.

Funding Disclaimer
The ACMG ACT Sheets are supported by the National Coordinating Center for the Regional Genetics Networks (NCC). NCC is supported by  the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under Cooperative Agreement #UH9MC30770 from 6/2020-5/2024 for $800,000 per award year.

This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.

^Spanish Versions of the ACMG ACT Sheets- These resources are supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $2,400,000 with 0 percent financed with non-governmental sources. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by HRSA, HHS, or the U.S. Government. For more information, please visit HRSA.gov.

Disclaimer: The ACT sheets and algorithms are designed primarily as educational resources for physicians to help them provide quality medical services, and adherence to them does not necessarily ensure a successful medical outcome. The ACT sheets and algorithms 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. In determining the propriety of any specific procedure or test, the healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these ACT sheets and algorithms.

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Authors

Please see the NCC website for up-to-date author list.