Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23996
Abstract: As comprehensive sequencing technologies gain widespread use, questions about so‐called secondary findings (SF) require urgent consideration. The American College of Medical Genetics and Genomics has recommended to report SF in 59 genes (ACMG SF v2.0)… read more here.
Keywords: arrhythmia syndromes; secondary findings; critical assessment; primary arrhythmia ... See more keywords
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1350
Abstract: Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients’ preferences. We… read more here.
Keywords: patients return; genetic counseling; disclosure; secondary findings ... See more keywords
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5670
Abstract: Genome sequencing is increasingly being used to aid genetic diagnosis in fetuses with structural abnormalities detected on ultrasound examination. However, with clinical exome and genome sequencing, there is potential for the recognition and reporting of… read more here.
Keywords: diagnosis; genes acmg; secondary findings; prenatal diagnosis ... See more keywords
Preference for secondary findings in prenatal and pediatric exome sequencing.
Sign Up to like & getrecommendations! Published in 2021 at "Prenatal diagnosis"
DOI: 10.1002/pd.5973
Abstract: OBJECTIVE We aimed to determine the frequency of accepting secondary findings in families underoing exome sequencing in prenatal and pediatric settings. METHODS This was a secondary analysis of prospectively enrolled patients undergoing trio exome sequencing… read more here.
Keywords: findings prenatal; exome sequencing; prenatal pediatric; secondary findings ... See more keywords
A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6097
Abstract: As the use of genomic sequencing (GS) in the prenatal setting becomes more widespread, laboratories and clinicians will be tasked with making decisions about whether to offer incidental and secondary findings to expectant parents and,… read more here.
Keywords: secondary findings; incidental findings; incidental secondary; laboratories clinicians ... See more keywords
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical immunology"
DOI: 10.1007/s10875-021-01107-2
Abstract: PURPOSE Newborn screening (NBS) for severe combined immunodeficiency (SCID) is based on the detection of T-cell receptor excision circles (TRECs). TRECs are a sensitive biomarker for T-cell lymphopenia, but not specific for SCID. This creates… read more here.
Keywords: actionable secondary; secondary findings; non actionable; false positive ... See more keywords
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103711
Abstract: Access to active search for actionable secondary findings (SF) in diagnostic practice is a major psychological and ethical issue for genomic medicine. In this study, we analyzed the preferences of patients and their families regarding… read more here.
Keywords: findings next; secondary findings; next generation; psychological ethical ... See more keywords
Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.243
Abstract: PurposeSecondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings.MethodsProviders with genomic sequencing experience reviewed five secondary-findings… read more here.
Keywords: genetics; secondary findings; genetic specialists; genetics training ... See more keywords
Response to Biesecker
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.25
Abstract: To the Editor: We appreciate the thoughtful feedback from Dr Biesecker1 regarding the American College of Medical Genetics and Genomics (ACMG) Secondary Findings v2.0 article.2 Our efforts as the Secondary Findings Maintenance Working Group rest… read more here.
Keywords: classification; working group; biesecker; genetics ... See more keywords
ACMG secondary findings 2.0
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.27
Abstract: To the Editor: The authors of the recent American College of Medical Genetics and Genomics secondary findings recommendations1 are to be commended for the thoughtful and helpful update they have provided to the community. As… read more here.
Keywords: committee; acmg secondary; genetics; secondary findings ... See more keywords
Searching for secondary findings: considering actionability and preserving the right not to know
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0438-x
Abstract: Secondary findings (SF) differ from incidental findings as they are actively sought and systematically evaluated using a list of genes selected based on guidelines developed by professional societies in various jurisdictions. Despite some authors stating… read more here.
Keywords: findings considering; genetics; secondary findings; actionability ... See more keywords