Literature DB >> 23328890

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.

Catherine W Rehder1, Karen L David, Betsy Hirsch, Helga V Toriello, Carolyn M Wilson, Hutton M Kearney.   

Abstract

Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.

Entities:  

Mesh:

Year:  2013        PMID: 23328890     DOI: 10.1038/gim.2012.169

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  32 in total

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

Authors:  Benjamin M Helm; Katherine Langley; Brooke Spangler; Samantha Vergano
Journal:  J Genet Couns       Date:  2013-11-13       Impact factor: 2.537

2.  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

Review 3.  Ancestry Testing and the Practice of Genetic Counseling.

Authors:  Brianne E Kirkpatrick; Misha D Rashkin
Journal:  J Genet Couns       Date:  2016-10-04       Impact factor: 2.537

4.  Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.

Authors:  Jonathan T L Kang; Amy Goldberg; Michael D Edge; Doron M Behar; Noah A Rosenberg
Journal:  Hum Hered       Date:  2017-09-15       Impact factor: 0.444

Review 5.  Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

Authors:  Jeffrey R Botkin; John W Belmont; Jonathan S Berg; Benjamin E Berkman; Yvonne Bombard; Ingrid A Holm; Howard P Levy; Kelly E Ormond; Howard M Saal; Nancy B Spinner; Benjamin S Wilfond; Joseph D McInerney
Journal:  Am J Hum Genet       Date:  2015-07-02       Impact factor: 11.025

6.  Microarray results as an indicator of sexual abuse.

Authors:  Vanessa Russell; Sarah M Nikkel; Michelle G K Ward
Journal:  Paediatr Child Health       Date:  2019-04-10       Impact factor: 2.253

7.  Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.

Authors:  Jia-Chi Wang; Leslie Ross; Loretta W Mahon; Renius Owen; Morteza Hemmat; Boris T Wang; Mohammed El Naggar; Kimberly A Kopita; Linda M Randolph; John M Chase; Maria J Matas Aguilera; Juan López Siles; Joseph A Church; Natalie Hauser; Joseph J Shen; Marilyn C Jones; Klaas J Wierenga; Zhijie Jiang; Mary Haddadin; Fatih Z Boyar; Arturo Anguiano; Charles M Strom; Trilochan Sahoo
Journal:  Eur J Hum Genet       Date:  2014-08-13       Impact factor: 4.246

8.  Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

Authors:  Nadine Jalkh; Mourad Sahbatou; Eliane Chouery; André Megarbane; Anne-Louise Leutenegger; Jean-Louis Serre
Journal:  Eur J Hum Genet       Date:  2014-11-26       Impact factor: 4.246

9.  Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Authors:  Hane Lee; Joshua L Deignan; Naghmeh Dorrani; Samuel P Strom; Sibel Kantarci; Fabiola Quintero-Rivera; Kingshuk Das; Traci Toy; Bret Harry; Michael Yourshaw; Michelle Fox; Brent L Fogel; Julian A Martinez-Agosto; Derek A Wong; Vivian Y Chang; Perry B Shieh; Christina G S Palmer; Katrina M Dipple; Wayne W Grody; Eric Vilain; Stanley F Nelson
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

10.  Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Authors:  Na Zhu; Claudia Gonzaga-Jauregui; Carrie L Welch; Lijiang Ma; Hongjian Qi; Alejandra K King; Usha Krishnan; Erika B Rosenzweig; D Dunbar Ivy; Eric D Austin; Rizwan Hamid; William C Nichols; Michael W Pauciulo; Katie A Lutz; Ashley Sawle; Jeffrey G Reid; John D Overton; Aris Baras; Frederick Dewey; Yufeng Shen; Wendy K Chung
Journal:  Circ Genom Precis Med       Date:  2018-04
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.