lunes, 25 de noviembre de 2013

Variable approaches to genetic counseling f... [Am J Med Genet A. 2013] - PubMed - NCBI

Variable approaches to genetic counseling f... [Am J Med Genet A. 2013] - PubMed - NCBI

Am J Med Genet A. 2013 Nov 15. doi: 10.1002/ajmg.a.36206. [Epub ahead of print]

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

Source

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Clinical Genetics, The Children's Mercy Hospital, Kansas City, Missouri.

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.
© 2013 Wiley Periodicals, Inc.

KEYWORDS:

consanguinity, genetic counseling, heterozygosity, incest, microarray, regions of homozygosity
PMID:
24243712
[PubMed - as supplied by publisher]

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