Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling
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| 024 | 7 | 0 | |a 10.1007/s10897-014-9794-4 |2 doi |
| 035 | |a (NATIONALLICENCE)springer-10.1007/s10897-014-9794-4 | ||
| 245 | 0 | 0 | |a Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling |h [Elektronische Daten] |c [Lacey Smith, Jessica Douglas, Alicia Braxton, Kate Kramer] |
| 520 | 3 | |a The purpose of this study was to investigate how the American College of Medical Genetics and Genomics (ACMG) March 2013 recommendations for reporting incidental findings (IFs) have influenced current practices of genetic counselors involved in utilizing whole exome sequencing (WES) for clinical diagnosis. An online survey was sent to all members of the National Society of Genetic Counselors; members were eligible to participate if they currently offered WES for clinical diagnosis. Forty-six respondents completed the survey of whom 34 were in practice prior to the March 2013 ACMG recommendations. Half of respondents (N = 19, 54.9%) in practice prior to March 2013 reported that the ACMG recommendations have had a significant impact on the content of their counseling sessions. Approximately half of respondents (N = 21, 45.5%) report all IFs, regardless of patient age, while one third (N = 14, 30.4%) consider factors such as age and parent preference in reporting IFs. Approximately 40% (N = 18) of respondents reported that the testing laboratory's policy for returning IFs has an influence on their choice of laboratory; of those, 72.2% (N = 13) reported that the option to opt out of receiving reports of IFs has a significant influence on their choice of laboratory. A majority of respondents (N = 43, 93.5%) found that most patients want to receive reports of IFs. However, respondents report there are patients who wish to decline receiving this information. This study querying genetic counselors identified benefits and challenges that the 2013 ACMG recommendations elicited. Some challenges, such as not having the option to opt out of IFs, have been addressed by the ACMG's most recent updates to their recommendations. Further investigation into larger and more inclusive provider populations as well as patient populations will be valuable for the ongoing discussion surrounding IFs in WES. | |
| 540 | |a National Society of Genetic Counselors, Inc., 2014 | ||
| 690 | 7 | |a Whole exome sequencing |2 nationallicence | |
| 690 | 7 | |a Incidental finding |2 nationallicence | |
| 690 | 7 | |a American College of Medical Genetics and Genomics |2 nationallicence | |
| 690 | 7 | |a Genetic counseling |2 nationallicence | |
| 690 | 7 | |a Autonomy |2 nationallicence | |
| 700 | 1 | |a Smith |D Lacey |u Genetic Counseling Program, Graduate School of Arts & Sciences, Brandeis University, Waltham, MA, USA |4 aut | |
| 700 | 1 | |a Douglas |D Jessica |u Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA |4 aut | |
| 700 | 1 | |a Braxton |D Alicia |u Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA |4 aut | |
| 700 | 1 | |a Kramer |D Kate |u Genetic Counseling Program, Graduate School of Arts & Sciences, Brandeis University, Waltham, MA, USA |4 aut | |
| 773 | 0 | |t Journal of Genetic Counseling |d Springer US; http://www.springer-ny.com |g 24/4(2015-08-01), 654-662 |x 1059-7700 |q 24:4<654 |1 2015 |2 24 |o 10897 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s10897-014-9794-4 |q text/html |z Onlinezugriff via DOI |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 900 | 7 | |a Metadata rights reserved |b Springer special CC-BY-NC licence |2 nationallicence | |
| 908 | |D 1 |a research-article |2 jats | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-springer | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s10897-014-9794-4 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Smith |D Lacey |u Genetic Counseling Program, Graduate School of Arts & Sciences, Brandeis University, Waltham, MA, USA |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Douglas |D Jessica |u Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Braxton |D Alicia |u Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Kramer |D Kate |u Genetic Counseling Program, Graduate School of Arts & Sciences, Brandeis University, Waltham, MA, USA |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Journal of Genetic Counseling |d Springer US; http://www.springer-ny.com |g 24/4(2015-08-01), 654-662 |x 1059-7700 |q 24:4<654 |1 2015 |2 24 |o 10897 | ||