Literature DB >> 24222483

Three clinical experiences with SNP array results consistent with parental incest: a narrative with lessons learned.

Benjamin M Helm1, Katherine Langley, Brooke Spangler, Samantha Vergano.   

Abstract

Single nucleotide polymorphism microarrays have the ability to reveal parental consanguinity which may or may not be known to healthcare providers. Consanguinity can have significant implications for the health of patients and for individual and family psychosocial well-being. These results often present ethical and legal dilemmas that can have important ramifications. Unexpected consanguinity can be confounding to healthcare professionals who may be unprepared to handle these results or to communicate them to families or other appropriate representatives. There are few published accounts of experiences with consanguinity and SNP arrays. In this paper we discuss three cases where molecular evidence of parental incest was identified by SNP microarray. We hope to further highlight consanguinity as a potential incidental finding, how the cases were handled by the clinical team, and what resources were found to be most helpful. This paper aims to contribute further to professional discourse on incidental findings with genomic technology and how they were addressed clinically. These experiences may provide some guidance on how others can prepare for these findings and help improve practice. As genetic and genomic testing is utilized more by non-genetics providers, we also hope to inform about the importance of engaging with geneticists and genetic counselors when addressing these findings.

Entities:  

Mesh:

Year:  2013        PMID: 24222483     DOI: 10.1007/s10897-013-9669-0

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  32 in total

1.  Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing.

Authors:  Zoe Lohn; Shelin Adam; Patricia Birch; Anne Townsend; Jan Friedman
Journal:  Am J Med Genet A       Date:  2013-02-07       Impact factor: 2.802

2.  Personal genome research : what should the participant be told?

Authors:  Amy L McGuire; James R Lupski
Journal:  Trends Genet       Date:  2010-04-08       Impact factor: 11.639

3.  Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Authors:  Gabriella Pichert; Shehla Nilofer Mohammed; Joo Wook Ahn; Caroline Mackie Ogilvie; Louise Izatt
Journal:  J Med Genet       Date:  2011-03-23       Impact factor: 6.318

Review 4.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

5.  Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.

Authors:  M Reiff; K Ross; S Mulchandani; K J Propert; R E Pyeritz; N B Spinner; B A Bernhardt
Journal:  Clin Genet       Date:  2012-09-18       Impact factor: 4.438

6.  Understanding incidental findings in the context of genetics and genomics.

Authors:  Mildred K Cho
Journal:  J Law Med Ethics       Date:  2008       Impact factor: 1.718

7.  Taxonomizing, sizing, and overcoming the incidentalome.

Authors:  Isaac S Kohane; Michael Hsing; Sek Won Kong
Journal:  Genet Med       Date:  2012-02-09       Impact factor: 8.822

8.  Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing.

Authors:  Lauren Grote; Melanie Myers; Anne Lovell; Howard Saal; Kristen Lipscomb Sund
Journal:  Genet Med       Date:  2012-07-12       Impact factor: 8.822

9.  New "first families": the psychosocial impact of new genetic technologies.

Authors:  Joanna H Fanos
Journal:  Genet Med       Date:  2012-02       Impact factor: 8.822

10.  CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies.

Authors:  Andrew D Johnson; Anupama Bhimavarapu; Emelia J Benjamin; Caroline Fox; Daniel Levy; Gail P Jarvik; Christopher J O'Donnell
Journal:  Genet Med       Date:  2010-06       Impact factor: 8.822

View more
  3 in total

1.  Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.

Authors:  Laura P Chen; Anita E Beck; Karen D Tsuchiya; Penny M Chow; Ghayda M Mirzaa; Rebecca T Wiester; Kenneth W Feldman
Journal:  Pediatrics       Date:  2015-03       Impact factor: 7.124

2.  Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.

Authors:  Fernanda Delgado; Holly K Tabor; Penny M Chow; Jessie H Conta; Kenneth W Feldman; Karen D Tsuchiya; Anita E Beck
Journal:  Genet Med       Date:  2014-09-18       Impact factor: 8.822

3.  An old problem in a new age: Revisiting the clinical dilemma of misattributed paternity.

Authors:  Laura Hercher; Leila Jamal
Journal:  Appl Transl Genom       Date:  2016-02-01
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.