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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine Open to us all

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Does the law require reinterpretation and return of revised genomic results?

The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have introduced an internationally shared framework for variant classification in genetic disorders. FVII deficiency is a rare inherited autosomal recessive bleeding disorder with sparse data concerning ACMG classification. To develop an approach which may improve the utility of molecular genetic test results, 129 patients with FVII deficiency were retrospectively assigned to six subgroups for exploratory analysis: F7 gene wildtype (group 1), ACMG 1 (benign variant) or ACMG 2 (likely benign variant), only (group 2), ACMG 3 (variant of uncertain significance) ± ACMG 1-2 heterozygous or not classified variant (group 3), ACMG 4 (likely pathogenic variant), or ACMG 5 (pathogenic variant) single heterozygous ± ACMG 1-3 single heterozygous (group 4), ACMG 4-5 homozygous or ≥2 ACMG 4-5 heterozygous or ≥1 ACMG 4-5 heterozygous plus either ACMG 1 c.1238G>A modifying variant homozygous or ≥2 ACMG 1-3 (group 5), FVII deficiency and another bleeding disorder (group 6). Eleven of 31 patients (35.5%) in group 5 had abnormal ISTH-BS (n = 7) and/or history of substitution with recombinant factor VIIa (n = 5) versus 4 of 80 patients (5.0%, n = 1 abnormal ISTH-BS, n = 3 substitution) in groups 1 (n = 2/22), 2 (n = 1/29), 3 (n = 0/9), and 4 (n = 1/20). Four of 18 patients (22.2%) with FVII deficiency and another bleeding disorder (group 6) had an abnormal ISTH-BS (n = 2) and/or history of substitution with recombinant factor VIIa (n = 3). Patients with a homozygous ACMG 4-5 variant or with specific combinations of heterozygous ACMG 4-5 ± ACMG 1-3 variants exhibited a high-risk bleeding phenotype in contrast to the remaining patients without another bleeding disorder. This result may serve as a basis to develop a genotype/phenotype prediction model in future studies.

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

The tricky matter of secondary genomic findings

Guidelines support the return of incidental genomic findings

American society of human genetics updates guidance on genetic testing in children: Group addresses predictive genetic testing, use of secondary findings from genomic sequencing tests.

NEWS updateN oninvasive prenatal tests used to screen for trisomies 13, 18, and 21 have specific advantages and limitations that should be thoroughly explained to pregnant women so they can carefully consider this option, according to a recent policy statement from the American College of Medical Genetics and Genomics (ACMG).The recommendation from ACMG is the fifth guidance statement about these tests, which are marketed in the U.S. by four companies.It follows statements from the American College of Obstetricians and Gynecologists (ACOG)/Society for Maternal-Fetal Medicine (SMFM), two from the International Society for Prenatal Diagnosis (ISPD), and the National Society of Genetic Counselors (NSGC).While the ACMG generally agrees with advice from these other groups, their statement makes important departures.Namely, the ACMG calls these tests-which detect cell-free fetal DNA (cfDNA) in maternal blood-"noninvasive prenatal screening" (NIPS) tests to emphasize that they are not diagnostic.Likewise, the ACMG statement places no limits on who should be offered NIPS and goes into greater detail about what patients should know about it [Gregg et al., 2013]."ACMG's statement emphasizes that NIPS is a screening test, not the be-all and end-all.There are certain caveats with [these] tests," says

eP344: Making the grade: How carrier screening panels score against the American College of Medical Genetics and Genomics “Tier 3” recommendations

Bertrand Might (right), diagnosed with deficiency of a protein expressed by the NGLY1 gene, with siblings Victoria (left) and Winston.

Focused Revision: ACMG practice resource: Genetic evaluation of short stature