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)

Miller, David T.; Lee, Kristy; Chung, Wendy K.; Gordon, Adam S.; Herman, Gail E.; Klein, Teri E.; Stewart, Douglas R.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Gollob, Michael H.; Harrison, Steven M.; Hershberger, Ray E.; McKelvey, Kent D.; Richards, C. Sue; Vlangos, Christopher N.; Watson, Michael S.; Martin, Christa Lese

doi:10.1038/s41436-021-01172-3

Cited by 393 publications

(360 citation statements)

References 34 publications

(28 reference statements)

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“…Among X-linked genes, three are on the ACMG secondary findings list v3.0 (ABCD1 [adrenoleukodystrophy], GLA [Fabry disease], and OTC [ornithine transcarbamylase deficiency]). 53 The potential impact that screening for X-linked conditions will have on families is discussed in the Supplement. A commitment to ongoing curation of the X-linked genes will ensure that new information is reflected in the genes recommended for screening in Tier 3 in future iterations.…”

Section: Acmg Recommendsmentioning

confidence: 99%

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Gregg

Aarabi

Klugman

et al. 2021

Genetics in Medicine

176

333

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Disclaimer: This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessarily assure a successful medical outcome. This practice resource 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 clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this practice resource. Clinicians also are advised to take notice of the date this practice resource was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously. Since the phrase "expanded carrier screening" is nonspecific, there is a need to define carrier screening processes in a way that will allow equitable opportunity for patients to learn their reproductive risks using next-generation sequencing technology. An improved understanding of this risk allows patients to make informed reproductive decisions. Reproductive decision making is the established metric for clinical utility of population-based carrier screening. Furthermore, standardization of the screening approach will facilitate testing consistency. This practice resource reviews the current status of carrier screening, provides answers to some of the emerging questions, and recommends a consistent and equitable approach for offering carrier screening to all individuals during pregnancy or preconception.

show abstract

Section: Acmg Recommendsmentioning

confidence: 99%

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Gregg

Aarabi

Klugman

et al. 2021

Genetics in Medicine

176

333

View full text Add to dashboard Cite

show abstract

“…The ACMG has established a list of secondary findings analysis as an option and the utility of secondary findings has been established elsewhere. [6][7][8] The limitations of ES in identifying genomic variants should be understood by the ordering clinician. ES typically does not detect intronic variants (unless immediately flanking a targeted exon).…”

Section: Current Statementioning

confidence: 99%

“…The ACMG Secondary Findings v3.0 is the recently released minimum set of genes recommended for evaluation in a diagnostic exome or genome. 7,8 Carrier status is reported by some labs as a secondary finding. All secondary findings should be available but are optional.…”

Section: Implementation Considerationsmentioning

confidence: 99%

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Manickam

McClain

Demmer

et al. 2021

Genetics in Medicine

276

234

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“…The American College of Medical Genetics has designated 73 genes as medically actionable [ 38 ]. Actionable means that finding a deleterious mutation would result in specific evidence-based medical recommendations that could reduce mortality and disease risk.…”

Section: Discussionmentioning

confidence: 99%

Framing Effects on Decision-Making for Diagnostic Genetic Testing: Results from a Randomized Trial

Dwyer

Shen

Zeng

et al. 2021

Genes

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Genetic testing is increasingly part of routine clinical care. However, testing decisions may be characterized by regret as findings also implicate blood relatives. It is not known if genetic testing decisions are affected by the way information is presented (i.e., framing effects). We employed a randomized factorial design to examine framing effects on hypothetical genetic testing scenarios (common, life-threatening disease and rare, life-altering disease). Participants (n = 1012) received one of six decision frames: choice, default (n = 2; opt-in, opt-out), or enhanced choice (n = 3, based on the Theory of Planned Behavior). We compared testing decision, satisfaction, regret, and decision cognitions across decision frames and between scenarios. Participants randomized to ‘choice’ were least likely to opt for genetic testing compared with default and enhanced choice frames (78% vs. 83–91%, p < 0.05). Neither satisfaction nor regret differed across frames. Perceived autonomy (behavioral control) predicted satisfaction (B = 0.085, p < 0.001) while lack of control predicted regret (B = 0.346, p < 0.001). Opting for genetic testing did not differ between disease scenarios (p = 0.23). Results suggest framing can nudge individuals towards opting for genetic testing. These findings have important implications for individual self-determination in the genomic era. Similarities between scenarios with disparate disease trajectories point to possible modular approaches for web-based decisional support.

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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)

Cited by 393 publications

References 34 publications

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Framing Effects on Decision-Making for Diagnostic Genetic Testing: Results from a Randomized Trial

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