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
Cystic Fibrosis	CF R117H	PDF
Cystic Fibrosis	No Mutations Detected by Carrier Screening	PDF
Ashkenazi Jewish Genetic Disorders	-	PDF
Sickle Cell Carrier/Trait	-	PDF
Spinal Muscular Atrophy	-	PDF

Diagnostic Test ACT Sheets

Condition	ACT Sheet
Muscular Dystrophy	PDF
Fragile X Syndrome	PDF

Family History ACT Sheets

Condition	ACT Sheet
Colon Cancer	PDF

Noninvasive Prenatal Screening ACT Sheets

Condition	ACT Sheet
Trisomy 13	PDF
Trisomy 18	PDF
Trisomy 21	PDF

Secondary Findings ACT Sheets

Condition	Biomarker	ACT Sheet
Familial Adenomatous Polyposis	APC Pathogenic Variants	PDF
Familial Hypercholesterolemia	APOB, LDLR, PCSK9 Pathogenic Variants	PDF
Hereditary Breast and Ovarian Cancer	BRCA1 and BRCA2 Pathogenic Variants	PDF
Lynch Syndrome	MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants	PDF
Malignant Hyperthermia	RYR1 and CACNA1S Pathogenic Variants	PDF

Transition ACT Sheets

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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