The Family History: Reemergence of an Established Tool

Hinton, Robert B.

doi:10.1016/j.ccell.2008.01.004

Cited by 35 publications

(25 citation statements)

References 35 publications

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“…It is not surprising that these types of discrepancies were identified, as many families have incomplete or inaccurate information about their ancestors. 26 In two families, molecular results suggested parents were more distantly related than expected. Although these results cannot be explained with certainty, it is possible that the parental relationship was unclear in one family, as the child was adopted.…”

Section: Discussionmentioning

confidence: 83%

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Sund

Zimmerman

Thomas

et al. 2013

Genetics in Medicine

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Purpose: The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions of homozygosity, and discuss ethical/legal implications when regions of homozygosity are associated with a parental blood relationship. methods: Study data were compiled from consecutive samples sent to our clinical laboratory over a 3-year period. A cytogenetics database identified patients with at least two regions of homozygosity >10 Mb on two separate chromosomes. A chart review was conducted on patients who met the criteria.

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Section: Discussionmentioning

confidence: 83%

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Sund

Zimmerman

Thomas

et al. 2013

Genetics in Medicine

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“…In actuality, it is fairly common for families to have incomplete or inaccurate information about their family history [Hinton, 2008]. A previous study found that in some scenarios, discrepancies in consanguinity as reported by family history versus molecular testing can be explained by the fact that the family is from an isolated population, are distant relatives and are unaware of their relationship, the family has chosen not to disclose this information, or because certain patient ethnicities have multiple generations of consanguinity which would result in more ROH than expected [Sund et al, 2012].…”

Section: Comfort Level and Technical Understanding Of Genetics Profesmentioning

confidence: 99%

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

Grote

Myers

Lovell

et al. 2013

American J of Med Genetics Pt A

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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.

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“…A recording of precise family history may require revisiting the questions on more than one occasion and obtaining information from more than one family member. In addition, family history, like other elements of the medical history, is dynamic and subject to change with the passage of time (Hinton, 2008).…”

Section: Family History and Phenotype Determination: Recruiting Subjementioning

confidence: 99%

Congenital Heart Disease

Martin¹,

Benson²

2013

Genomic and Personalized Medicine

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The Family History: Reemergence of an Established Tool

Cited by 35 publications

References 35 publications

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

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

Congenital Heart Disease

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