Literature DB >> 24242748

The need for developing standardized family pedigree nomenclature.

R L Bennett1, K A Steinhaus, S B Uhrich, C O'Sullivan.   

Abstract

To assess the variation in usage of symbols used in recording a genetic family history, full members of the National Society of Genetic Counselors were surveyed by questionnaire. The questionnaire return rate was 55.3% and genetic counselors from a broad range of clinical experience, genetic counseling training programs and geographic regions responded. There was striking variation in symbols used for recording routine medical information in a genetic family history (i.e., pregnancy, spontaneous abortion, termination of pregnancy). There was even less consensus in recording situations representing new reproductive technologies (i.e., artificial insemination by donor semen, donor ovum, surrogate motherhood). The results of this survey document the need for developing standardized nomenclature in recording genetic family histories as a quality assurance measure in the delivery of genetic services. Such standardization will reduce the chance of incorrect interpretation of patient and family medical and genetic information.

Entities:  

Year:  1993        PMID: 24242748     DOI: 10.1007/BF00961575

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


  6 in total

1.  Genetic counselors: translating genomic science into clinical practice.

Authors:  Robin L Bennett; Heather L Hampel; Jessica B Mandell; Joan H Marks
Journal:  J Clin Invest       Date:  2003-11       Impact factor: 14.808

2.  Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors.

Authors:  Robin L Bennett; Kathryn Steinhaus French; Robert G Resta; Debra Lochner Doyle
Journal:  J Genet Couns       Date:  2008-09-16       Impact factor: 2.537

3.  Leading Voices and the Power of One: 2002 Presidential Address to the National Society of Genetic Counselors.

Authors:  Robin L Bennett
Journal:  J Genet Couns       Date:  2003-04       Impact factor: 2.537

4.  The family medical history as a tool in preconception consultation.

Authors:  Robin L Bennett
Journal:  J Community Genet       Date:  2012-07-19

5.  Recommendations for standardized human pedigree nomenclature.

Authors:  R L Bennett; K A Steinhaus; S B Uhrich; C K O'Sullivan; R G Resta; D Lochner-Doyle; D S Markel; V Vincent; J Hamanishi
Journal:  J Genet Couns       Date:  1995-12       Impact factor: 2.537

6.  Secondary Students' Reasoning on Pedigree Problems.

Authors:  Justin Timm; Katharina Wools; Philipp Schmiemann
Journal:  CBE Life Sci Educ       Date:  2022-03       Impact factor: 3.955

  6 in total

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