如何绘制家系图

1、professional issuesstandardized 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 onli

2、ne: 16 september 2008#national society of genetic counselors, inc. 2008abstract in 1995, the pedigree standardization task force(pstf) of the national society of genetic counselors(nsgc) proposed a system of pedigree nomenclature.recently, the pstf (now called the pedigree standardiza-tion work grou

3、p 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, s

4、earched 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. many journals still do not cite specific standards forpedigrees, but those found cited the pstf nomenclat

5、ure.we 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 history.we rec

6、ommend 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 standar

7、ds. all health profes-sionals, trainees, and researchers should be made aware ofthe utility of using a common pedigree nomenclature inclinical practice and publication. this will become partic-ularly important as electronic medical records become morewidely utilized.keywords electronicmedicalrecord.

8、familyhistory.genetic counseling.nationalsocietyofgeneticcounselors.pedigreesymbols.pedigreestandardizationintroductiona medical pedigree is a graphic presentation of a familyshealth history and genetic relationships and it has been apivotal tool in the practice of medical genetics for nearly acentu

9、ry (bennett 1999; resta 1993). 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 (bennett 1999; center for disease control2008; hhs 2008; nchpeg 1995).in

10、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 al. 1993; steinhaus et al. 1995).j genet counsel (2008) 17:

11、424433doi 10.1007/s10897-008-9169-9r. l. bennett (*)division of medical genetics, department of medicine,university of washington medical center,box 357720, seattle, wa 98195-7720, usae-mail: k. s. frenchdivision of genetics and metabolism, university of california,irvine,orang

12、e, 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 pat

13、ient advocacy groups to develop standardizedpedigree nomenclature (bennett et al. 1995). in this review,we assess the utilization and acceptance of the 1995 pedigreenomenclature by health professionals, educators, and inpublications. a systematic review of clinical practice was notperformed, althoug

14、h a literature review was conducted. wepropose some minor stylistic changes to the nomenclatureand provide suggestions for future development.pedigree nomenclature in publicationsthe nsgc pedigree standardization work group (pswg)employed several strategies to determine if there werechallenges to th

15、e 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 nomencl

16、ature over theperiod of 1994 to august 2007. using scopus preview(2007), we searched for journal articles in english that citedthe nomenclature. the instructions for authors of englishlanguage journals with a focus on clinical genetics that havea history of publishing pedigrees were reviewed to see

17、ifpstf nomenclature was recommended. the websites ofseveral professional societies of journal editors weresearched for recommendations for publishing pedigrees.the pstf nomenclature is referred to in a variety ofclassical human genetics texts (referenced in table 1). theama manual of style (2007) an

18、d several human andmedical genetics journals cite the pstf recommendationsintheirinstructionsforauthors(american journal of humangenetics (http:/), american journal of med-ical genetics (http:/), geneticsin medicine (http:/), and journal of geneticcounseling (). other genetics journalswith a signifi

19、cant focus on clinical genetics did not have anyrecommendations in their instructions to authors regardingthe publication of pedigrees or specific standards for drawingpedigrees (such as clinical genetics (http:/), european journal of human genetics(http:/ european journal of medicalgenetics (http:/

20、), new england journal ofmedicine (), nature genetics ( and lancet (). 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 (http:/writing.colost

21、), the europeanassociation of science editors (http:.uk), theinternational committee of medical journal editors (),andtheworldassociationofmedicaleditors() do not include guidance for publica-tion of pedigrees.scientific and medical journals as

22、 well as professionalsocieties of journal editors should adopt standardizedpedigree nomenclature. as we documented previously(steinhaus et al. 1995), wide variation in pedigree nomen-clature (even within the same journal) can potentially leadto misinterpretation of data and errant scientific conclus

23、ionsbased on the publication of the pedigree.publication of pedigrees and confidentialitywhen pedigrees are published, journals should assure thatstandardized nomenclature is followed. care should betaken to preserve patient and family confidentiality,particularly since the widespread availability o

24、f 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

25、astudy, and to show participants a sample of a genericpedigree that is similar to one that might appear in apublication (bennett 2000; byers and ashkenas 1998). atable 1 examples of journals, text and reference books whichinclude the national society of genetic counselors standard pedigreenomenclatu

26、regeneral 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 bennett 1998)asco curriculum

27、: cancer genetics and cancer predisposition, 2ndedition (2004)emerys elements of medical genetics, 13th edition (turnpenny andellard 2007)emery and rimoins principles and practice of medical genetics, 5thedition (kingston 2007)neurogenetics: scientific and clinical advances (bennett 2006a)oxford des

28、k reference: clinical genetics (firth et al. 2005)principles of molecular medicine, 2nd edition (bennett 2006b)the genetic basis of common disease, 2nd edition (leroy andwalker 2002)thompson & thompson, genetics in medicine, 7th edition(nussbaum et al. 2007)update of standardized pedigree nomenc

29、lature425pedigree 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 profe

30、ssionals have a duty to warn a patient aboutpotential genetic risks to the patients relatives (offitt et al.2004); such conversations should occur before the publica-tion of a pedigree (bennett 2000; botkin et al. 1998). topreserve confidentiality, the minimum amount of informa-tion needed to convey

31、 the scientific finding should beincluded on the published pedigree. authors should askthemselves how they would feel if their own pedigrees werebeing published and if the information would make them ortheir families uncomfortable (bennett 2000).the practice of masking or altering pedigrees should b

32、eaddressed by the various societies and councils of journaleditors along with the use of standard pedigree nomenclature.we discourage masking or altering pedigrees (bennett 2000).masking, which is usually evident to the reader, refers to anobvious change in the pedigree such as using diamonds tohide

33、 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 al. 1998)

34、. although the minimal amount ofinformation needed to provide scientific documentationshould be used in a published pedigree, it is also essentialto maintain the integrity of the pedigree with proper birthorder, ages, and affected status as this information may bevital to pedigree interpretation. al

35、teration may hinder therecognition of important genetic paradigms such as antici-pation, parent of origin effects, sex-linked or sex-limitedexpression, or in utero lethality. in addition, genetic andenvironmental factors that alter disease expression, orconfounding effects of having common ancestors

36、 (as maybe noted in the offspring of consanguineous unions or inpopulations with a high coefficient of inbreeding), may bemissed if pedigrees are altered or masked (bennett 2000).usage of the pstf nomenclature in health professionaltraining, certification and credentialingwe contacted the transnatio

37、nal alliance of geneticcounselors () and the directors ofgenetic counseling training programs that are accredited bythe american board of genetic counseling (http:/) (abgc) to determine if the nsgc pstfnomenclature was used in training of genetic counselorsworldwide. we also com

38、municated with the executivedirectors of the certifying or credentialing organizationsfor genetic counselors (abgc), medical geneticists (amer-ican board of medical genetics (),and advanced practice genetic nurses (the genetic nursecredentialing committee (http:/www.geneticnurse.or

39、g) todocument whether the pstf nomenclature was used inexamination questions or in the credentialing process.all genetic counseling training programs in northamerica accredited by the abgc use the nomenclature. aquery of the transnational alliance for genetic counselingnotes use of the pstf nomencla

40、ture in genetics professionaltraining programs in australia, china, south africa, theunited kingdom, france, israel, spain, and japan. asevidenced by educational resources on their websites.many professional societies have introduced the nomen-clature to their membership as part of genetics/genomics

41、family history initiatives, including the national coalitionfor health professional education in genetics (nchpeg1995) (which includes representatives from over 100diverse health organizations), the american medical asso-ciation (), the american academyof family physicians (htt

42、p:/), the americanacademy of physicians assistants (),the american society of clinical oncologists (asco 2004),the united kingdoms clinical genetics society (), and the china genetic counselingnetwork (). jenkins and calzone (2007)document a coa

43、lition of nursing societies that advocatefor use of the pstf nomenclature as a component oftaking and interpreting a family history as a core nursingcompetency.changes proposed to the pedigree nomenclaturewe found no comprehensive alternative pedigree nomencla-tures or recurring criticisms of the ps

44、tfs recommendations.in juneof 2002 and again injune of 2007, wesolicited open-ended comments regarding use of the pedigree nomenclaturefrom members of the nsgc through its general listserv.comments collected from the nsgc membership regardinguse of the pedigree nomenclature were mostly related tosty

45、listic preferences as compared to changes in the actualsymbols, and there were no new comments that had notalready been addressed in 1995, in the development of theoriginal nomenclature. figures 1, 2, 3 and 4 reflect minorchanges from the original 1995 nomenclature. the follow-ing changes and the re

46、spective rationale are noted:1.a diamond for the “individual symbol” can be used toreflect persons with gender not specified and can beused for persons with congenital disorders of sexdevelopments (dsd) and also with transgenderedindividuals (fig. 1.1). the concept of gender identity426bennett et al

47、.has evolved over the last decade. current practice is toavoid early assignment of gender for people withdisorders of sex development (defined by vilain andcolleagues as congenital conditions in which develop-ment of chromosomal, gonadal, or anatomic sex isatypical) (vilain et al. 2007). in addition

48、, someindividuals identify themselves somewhere along thespectrum between the opposites of male and female(a 2007). the pedigree standardizationwork group continues to recommend that the male orfemale symbol be used to define the phenotypic gender,withthekaryotypenotedbelowthesymbol,whenknown.this m

49、ight be important, for example, in identifying thecancer risks faced by a brca mutation carrier who hasinstructions: key should contain all information relevant to interpretation of pedigree (e.g., define fill/shading) for clinical (non-published) pedigrees include:a) name of proband/consultandb) fa

50、mily names/initials of relatives for identification, as appropriate c) name and title of person recording pedigreed) historian (person relaying family history information)e) date of intake/updatef) reason for taking pedigree (e.g., abnormal ultrasound, familial cancer, developmental delay, etc.)g) a

51、ncestry of both sides of family recommended order of information placed below symbol (or to lower right)a) age; can note year of birth (e.g., b.1978) and/or death (e.g., d. 2007)b) evaluation (see figure 4)c) pedigree number (e.g., i-1, i-2, i-3) limit identifying information to maintain confidentia

52、lity and privacymalefemalegender not specified comments1. individualassign gender by phenotype (see text for disorders of sex development, etc.). do not write age in symbol.2. affected individualkey/legend used to define shading or other fill (e.g., hatches, dots, etc.). use only when individual is

53、clinically affected.with 2 conditions, the individuals symbol can be partitionedaccordingly, each segment shaded with a different fill and defined in legend. 3. multiple individuals,number knownnumber of siblings written inside symbol. (affected individuals should not be grouped).4. multiple individ

54、uals, number unknown or unstatedn used in place of ?.5. deceased individualindicate cause of death if known. do not use a cross ( )to indicate death to avoid confusion with evaluation positive (+).6. consultand individual(s) seeking genetic counseling/testing.7. probandan affected family member comi

55、ng to medical attention independent of other family members.8.stillbirth (sb)include gestational age and karyotype, if known.9. pregnancy (p)gestational age and karyotype below symbol. light shading can be used for affected; define in key/legend.pregnancies not carried to termaffectedunaffected10. s

56、pontaneous abortion (sab)if gestational age/gender known, write below symbol. key/legend used to define shading.11. termination of pregnancy (top)other abbreviations (e.g., tab, vtop) not used for sake of consistency.12. ectopic pregnancy (ect)write ect below symbol.b. 192530y4 mo555nnnd. 35d. 4 mod

57、. 60sppsb28 wksb30 wksb34 wkppp 10 wks18 wks47,xy,+18ectlmp: 7/1/200747,xy,+2120 wk46,xx17 wks femalecystic hygromafig. 1 common pedigreesymbols, definitions, andabbreviations.update of standardized pedigree nomenclature427undergone female-to-male transgender surgery. a dia-mond can be used when it

58、is not clinically relevant toassign gender (fig. 1.1)2.we no longer use a shorter “individuals line” forpregnancies not carried to term (figs. 2.12.2). apregnancy not carried to term is distinguished fromother symbols by the unique use of a triangle, therebymaking the shorter individuals line redund

59、ant graph-ically (figs. 1.101.12).3.we recommend including on the pedigree the indica-tion for referral (reason for taking the pedigree) such as“abnormal ultrasound,” “familial cancer,” etc (seefig. 1 instructions). this helps to clarify the orientationof the information collected on the pedigree, b

60、ecauseall pedigrees document information from directedhealth queries recording the consultands personalmedical and family history (bennett 1999).4.the instructions (fig. 1) were changed for therecorder to include less identifying information onthe pedigree to be compliant with the health informa-tion privacy, acce