Literature DB >> 24243712

Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.

Lauren Grote1, Melanie Myers, Anne Lovell, Howard Saal, Kristen Lipscomb Sund.   

Abstract

SNP microarrays are capable of detecting regions of homozygosity (ROH) which can suggest parental relatedness. This study was designed to describe pre- and post-test counseling practices of genetics professionals regarding ROH, explore perceived comfort and ethical concerns in the follow-up of such results, demonstrate awareness of laws surrounding duty to report consanguinity and incest, and allow respondents to share their personal experiences with results suggesting a parental relationship. A 35 question survey was administered to 240 genetic counselors and geneticists who had ordered or counseled for SNP microarray. The results are presented using descriptive statistics. There was variation in both pre- and post-test counseling practices of genetics professionals. Twenty-five percent of respondents reported pre-test counseling that ROH can indicate parental relatedness. The most commonly reported ethical concern was disclosure of findings suggesting parental relatedness to parents of the patient; only 48.4% reported disclosing parental relatedness when indicated. Fifty-seven percent felt comfortable receiving results suggesting parental consanguinity while 17% felt comfortable receiving results suggesting parental incest. Twenty percent of respondents were extremely/moderately familiar with the laws about duty to report incest. Personal experiences in post-test counseling included both parental acknowledgement and denial of relatedness. This study highlights the differences in genetics professionals' pre- and post-test counseling practices, comfort, and experiences surrounding parental relatedness suggested by SNP microarray results. It identifies a need for professional organizations to offer guidance to genetics professionals about how to respond to and counsel for molecular results suggesting parental consanguinity or incest.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  consanguinity; genetic counseling; heterozygosity; incest; microarray; regions of homozygosity

Mesh:

Year:  2013        PMID: 24243712     DOI: 10.1002/ajmg.a.36206

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  2 in total

1.  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

Review 2.  How genetics works? An illustrative case report.

Authors:  Vikas Khetan; Mario Zanolli; Jenina Capasso; Nanette Zale Refice; Kimberley Neeley; Alex V Levin
Journal:  Indian J Ophthalmol       Date:  2016-05       Impact factor: 1.848

  2 in total

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