Standardized Human Pedigree Nomenclature: …

1 PROFESSIONAL ISSUESS tandardized Human Pedigree nomenclature : Updateand Assessment of the Recommendations of the NationalSociety of Genetic CounselorsRobin L. Bennett&Kathryn Steinhaus French&Robert G. Resta&Debra Lochner DoyleReceived: 12 April 2008 /Accepted: 29 May 2008 /Published online: 16 September 2008#National Society of Genetic Counselors, Inc. 2008 AbstractIn 1995, the Pedigree Standardization Task Force(PSTF) of the National Society of Genetic Counselors(NSGC) proposed a system of Pedigree , the PSTF (now called the Pedigree Standardiza-tion Work Group or PSWG) sought evidence that thepublished symbols met the needs of health professionals,were incorporated into health professional training andwere utilized in publications. We searched PubMed andreference lists of select publications, reviewed the Instruc-tions for Authors of several journals, searched the websitesof professional societies, sought comment from the mem-bership of the NSGC, and looked at recommendations andtraining practices of various health professional organiza-tions.

2 Many journals still do not cite specific standards forpedigrees, but those found cited the PSTF did not find significant objections or alternatives to the1995 nomenclature . Based on our review, we propose onlya few minor stylistic changes to the Pedigree symbols. Thepedigree nomenclature of the NSGC is the only consistentlyacknowledged standard for drawing a family health recommend regular and continued review of thesepedigree standards to determine if additional symbols areneeded to accommodate changes in clinical practice toensure that the symbols continue to meet the needs ofhealth professionals and researchers as well as adhere toevolving ethical and privacy standards. All health profes-sionals, trainees, and researchers should be made aware ofthe utility of using a common Pedigree nomenclature inclinical practice and publication.

3 This will become partic-ularly important as electronic medical records become morewidely medical Society of Genetic standardizationIntroductionA medical Pedigree is a graphic presentation of a family shealth history and genetic relationships and it has been apivotal tool in the practice of medical genetics for nearly acentury (Bennett1999; Resta1993). With the mapping ofthe Human genome and the increasing role of genetics indaily medical practice, recording and interpreting a pedi-gree should be a standard competency of all healthprofessionals (Bennett1999; Center for Disease Control2008; HHS 2008; NCHPEG1995).In the early 1990s, the National Society of GeneticCounselors Pedigree Standardization Task Force (NSGCPSTF) documented that even genetics professionals wereusing an inconsistent array of symbols and nomenclature torecord pedigrees (Bennett et ; Steinhaus et ).

4 J Genet Counsel (2008) 17:424 433 DOI L. Bennett (*)Division of Medical Genetics, Department of Medicine,University of Washington Medical Center,Box 357720, Seattle, WA 98195-7720, USAe-mail: S. FrenchDivision of Genetics and Metabolism, University of California,Irvine,Orange, CA, USAR. G. RestaHereditary Cancer Clinic, Swedish Cancer Institute,Seattle, WA, USAD. L. DoyleGenetic Services Section,Washington State Department of Health,Seattle, WA, USAThe PSTF worked with professional genetic societies,prominent medical genetics professionals, genetics educa-tors, and patient advocacy groups to develop standardizedpedigree nomenclature (Bennett et ). In this review,we assess the utilization and acceptance of the 1995 pedigreenomenclature by health professionals, educators, and inpublications.

5 A systematic review of clinical practice was notperformed, although a literature review was conducted. Wepropose some minor stylistic changes to the nomenclatureand provide suggestions for future nomenclature in PublicationsThe NSGC Pedigree Standardization Work Group (PSWG)employed several strategies to determine if there werechallenges to the Standardized Pedigree nomenclaturepublished in 1995. To look for published references to thenomenclature we searched PubMed using the key wordspedigree nomenclature , Pedigree standards, Pedigree stan-dardization, family history standards, family history stan-dardization, and family history nomenclatureover theperiod of 1994 to August 2007. Using SCOPUS Preview(2007), we searched for journal articles in English that citedthe nomenclature . TheInstructions for Authorsof Englishlanguage journals with a focus on clinical genetics that havea history of publishing pedigrees were reviewed to see ifPSTF nomenclature was recommended.

6 The websites ofseveral professional societies of journal editors weresearched for recommendations for publishing PSTF nomenclature is referred to in a variety ofclassical Human genetics texts (referenced in Table1). TheAMA Manual of Style(2007) and several Human andmedical genetics journals cite the PSTF recommendationsin their Instructions for Authors (American Journal of HumanGenetics( ), American Journal of Med-ical Genetics( ),Geneticsin Medicine( ),andJournal of GeneticCounseling( )). Other genetics journalswith a significant focus on clinical genetics did not have anyrecommendations in their Instructions to Authors regardingthe publication of pedigrees or specific standards for drawingpedigrees (such asClinical Genetics( ),European Journal of Human Genetics( ),European Journal of MedicalGenetics( ), New England Journal ofMedicine( ),Nature Genetics( ), andLancet( )).

7 We are notaware of any clinical genetic journals that expound adifferent Pedigree nomenclature to use in publications thanthat proposed by the PSTF. The websites for the Council ofBiology Editors ( ), the EuropeanAssociation of Science Editors ( ), theInternational Committee of Medical Journal Editors ( ), and the World Association of Medical Editors( ) do not include guidance for publica-tion of and medical journals as well as professionalsocieties of journal editors should adopt standardizedpedigree nomenclature . As we documented previously(Steinhaus et ), wide variation in Pedigree nomen-clature (even within the same journal) can potentially leadto misinterpretation of data and errant scientific conclusionsbased on the publication of the of Pedigrees and ConfidentialityWhen pedigrees are published, journals should assure thatstandardized nomenclature is followed.

8 Care should betaken to preserve patient and family confidentiality,particularly since the widespread availability of profession-al journals and scientific reporting makes it more likely thata Pedigree will be recognized by a family member or byindividuals familiar with the family. Researchers shouldconsider obtaining consent from research participants toallow publication of a Pedigree when enrolling subjects in astudy, and to show participants a sample of a genericpedigree that is similar to one that might appear in apublication (Bennett2000; Byers and Ashkenas1998). ATable 1 Examples of Journals, Text and Reference Books WhichInclude the National Society of Genetic Counselors Standard PedigreeNomenclatureGeneral referenceAMA Manual of Style. A Guide for Authors and Editors, 10thEdition (2007)JournalsAmerican Journal of Medical GeneticsAmerican Journal of Human GeneticsGenetics in MedicineJournal of Genetic CounselingText booksA Guide to Genetic Counseling (Schuette and Bennett1998)ASCO Curriculum: Cancer Genetics and Cancer Predisposition, 2ndedition (2004)Emery s Elements of Medical Genetics, 13th edition (Turnpenny andEllard2007)Emery and Rimoin s Principles and Practice of Medical Genetics, 5thEdition (Kingston2007)Neurogenetics: Scientific and Clinical Advances (Bennett2006a)Oxford Desk Reference.

9 Clinical Genetics (Firth et )Principles of Molecular Medicine, 2nd Edition (Bennett2006b)The Genetic Basis of Common Disease, 2nd Edition (LeRoy andWalker2002)Thompson & Thompson, Genetics in Medicine, 7th Edition(Nussbaum et ) update of Standardized Pedigree Nomenclature425pedigree should not contain information about which asubject had no prior knowledge. In other words, a personwho had presymptomatic or susceptibility genetic testingthrough research should not find out about increased ordecreased disease risk status from a publication. Likewise,health professionals have a duty to warn a patient aboutpotential genetic risks to the patient s relatives (Offitt et ); such conversations should occur before the publica-tion of a Pedigree (Bennett2000; Botkin et ). Topreserve confidentiality, the minimum amount of informa-tion needed to convey the scientific finding should beincluded on the published Pedigree .

10 Authors should askthemselves how they would feel if their own pedigrees werebeing published and if the information would make them ortheir families uncomfortable (Bennett2000).The practice of masking or altering pedigrees should beaddressed by the various societies and councils of journaleditors along with the use of standard Pedigree discourage masking or altering pedigrees (Bennett2000).Masking, which is usually evident to the reader, refers to anobvious change in the Pedigree such as using diamonds tohide gender on a Pedigree . Alteration involves changinginformation such as birth order or gender. A survey of 177investigators who published pedigrees in peer reviewedjournals indicated that 19% had altered the Pedigree and45% had not disclosed their alterations to the journal editor(Botkin et ).