P.W. Allderdice, PhD, FCCMG E. O'Leary S. Ficken Updating Genograms in the Practice of Preventive SUMMARY RESUME physicians uncover clues to genetic Le genogramme (i.e. les ant&cedents ou les arbres risk while they routinely sketch and add to genealogiques) permet aux me'dicins de famille de patients' genograms. A symbolic deceler certains risques de desordres genetiques. Un langage symbolique international permet international language identifies health d'identifier l'etat de sante et illustre les relations conditions and shows inter- and inter et intra-generations des unions et de la intra-generational relationships of mating descendance. Le temps dedie a la revision et a la and descent. Time allotted to reviewing the mise a jour des arbres genealogiques familiaux des genogram and follow-up carried out by the patients, que ce soit par l'entremise des medecins de famille ou par une clinique de genetique, cadre bien family physician and/or through referral to a dans l'objectif de medecine preventive. Cette genetics clinic lie well within the mandate to vigilance fait partie du contrat tacite entre la famille practise preventive medicine. Such vigilance et le medecin de famille dont le mandat prevoit de is fundamental to the unwritten agreement retarder, d'attenuer ou d'eviter tout ce qui pourrait between the family and the family physician provoquer un etat de crise dans lI"tat de sante. to delay, moderate, or avoid health crises. (Can Fam Physician 1988; 34:849-855, 870.) Key words: genogram, pedigree, , family-health tree, preventive genetics, family medicine

Dr. Allderdice is professor of specialties, the patient and/or family tree showed segregation (transmission) Cytogenetics at Memorial members are often active participants in of an autosomal dominant gene (Figure University of Newfoundland and an ongoing review of their own family 3). 6,7 medical scientist at the Janeway tree. Sometimes the family physician By 1986, an X-linked dominant gene Child Health Centre. E. O'Leary also acts as a "token" family member had also been recognized in this kin- is Genetic Associate. S. Ficken is who is familiar with the health history of dred.7'8 (ligure 1) 9 The "Ox's" are Medical Illustrator at Memorial a number of a patient's close relatives. one of the many kindreds Dr. Mendel University of Newfoundland. This relationship may raise ethical is- followed through her years of family Requests for reprints to: Dr. P.W. sues, some of which are discussed by practice. Continual review and updat- Allderdice, Health Sciences Sugiyama.4 ing of patients' family trees enables Centre, Memorial University of This paper provides practical guide- family physicians to turn genetic theory Newfoundland, St. John's, Nfld. into practical preventive family medi- AlB 3V6 lines to sketching a family tree: how to collect background data and arrange it cine on a routine basis.'0 PECIALISTS SHARE private lan- as a family tree, using internationally bJguage. Family physicians organize recognized symbols (Figure 1).5 Sub- How Long Does It Take information about family history into a sequently, for the family physician un- a Tree? genogram. I Geneticists draw a pedi- to Sketch Family certain of the ease or value of including It takes 16 minutes for participants in gree. In order to encourage co-opera- sketches of family trees in patient tion from lay people who may be un- an average interview to construct a charts, we walk in the shoes of the "'genogram", is the response of Jolly comfortable with these terms because Mendel, MD, CCFP. they associate "pedigree" with animal mythical P.D.Q. and colleagues.' Time is saved if the breeding and cannot visualize a Dr. Mendel shared copies of her patient or family member knows ahead "genogram", we speak of the "family- rough sketches of the "Ox" family tree what information is needed and has health tree" or "family tree". 2,,3 (Figures 2,3) and excerpts from her started to collect it. 1'12 To this end, Compiling data, and sketching the notes on their health and family rela- many genetics clinics routinely send a family tree are essential steps in most tionships. turned. These data are used when the genetic investigations. In contrast to the Although uninformative in 1948 (Fig- family-health tree is constructed by the family/physician relationship in other ure 2), by 1967 the cumulative family geneticist or genetic associate. The

CAN. FAM. PHYSICIAN Vol. 34: APRIL 1988 849 Figure 1 family physician may also use this Symbols Commonly Used in Genograms shortcut. Ask your local genetics clinic for a copy of the form it uses (see list of sources"), or put together your own. Be aware that some adults are function- ally illiterate and thus unable to provide written family data; there are others I whose native language you cannot read. Using Existing Family Trees Many lay people compile their own family tree. Often students construct one for a history, folk-lore, or other course. (You can imagine an aunt's re- action when her adopted nephew turned n in her ancestors as his for a history as- signment, without indicating his adop- tion by a dashed line!) In other someone fascinated by knows in detail where cousin marriages took place, and who is really the father of whom. Members of the Church of Latter Day Saints register names of grandparents back four generations. Similarly, members of some other re- ligions and cultures have traditions of keeping records of descent. The family physician will often find that a family tree is a familiar concept and that a great IV deal of essential data is already at hand. The component new to the lay person is the addition of health facts.2'3

I - i + I - 2 connected by parent line When to Consider (mating or marriage line) Using a Genetics Clinic 1-5 to I - 7 3 children, sex not specified Consultation with medical geneticists by telephone or mail, or referral ofa pa- 11-1 + 11 - 7 consanguineous mating tient to a genetics clinic is appropriate they share common ancestry and welcomed by the clinic at any point 11-4 + 11 - 5 are divorced in genetic investigation." When a ge- their 1st daughter: stillborn netic condition or risk is suspected, family physicians must feel free either 11-5 + 11 - 6 are separated their 2nd pregnancy produced: to discuss immediate referral to a genet- twins (11 9 + Ill - 10) ics clinic, or, to the extent that their fraternal time, experience and knowledge allow, Ill-I + 1111- 2 their 1st pregnancy produced proceed themselves through a series of identical twin boys: (IV -1 + IV - 5) steps. - III - 1 is Ill - 2 is father Physicians who choose the latter ap- Ill-I + 1111 2 pregnant, proach must organize the collection of iii - 4 adopted by 112 + 11 - 3 essential background data; compile a three-generation family tree if data are Ill-5 + 1111 - 8 1st pregnancy: therapeutic abortion available; obtain permission to review 2nd pregnancy: spontaneous abortion relatives' medical records; request nec- 3rd pregnancy: affected proband essary laboratory investigations; con- homozygous for recessive gene sult specialists as needed; make the di- agnosis; proceed to determine the pres- Oknown heterozygote ence or absence of recurrence risk; and presumed hetereozygote '' autosomal recessive gene autosomal recessive gene provide genetic counselling. Immediate referral of a patient to a affected by teo of four traits ( carrier of X-linked gene genetics clinic saves the time ofthe fam- ily physician because the staff of the ge-

850 CAN. FAM. PHYSICIAN Vol. 34: APRIL 1988 netic clinic carry out the steps listed bines ongoing compassionate support What Information is above. For a referred patient the initial with knowledge of family circum- Requested on a genetic counselling, too, is provided by stances and is easily backed by the ge- Family-History Form? the clinic's staff. If all or part of the se- netics clinic by means of mail or tele- quence is handled by the family physi- phone contact. When relatives other Genealogic data"'12 cian, it may be useful to consult the than the parents of the proband are sus- nearest genetics clinic to tap their regis- try for possible links to kindreds studied pected or identified from the pedigree The proband is asked to list the relig- as at specific genetic risk, ethical issues ious, ethnic, and geographic origins of by other investigators.4"1'l12 must be considered in deciding whether parents and grandparents. The back- Once the diagnosis is made, the re- ground information obtained from these currence risk determined, and initial or how to communicate such informa- tion.4 questions may help the physician to counselling carried out, continued co- reach a diagnosis because the frequency unselling will usually be essential. The of specific disease genes differs among family physician will help family mem- bers to interpret and comprehend the in- What Is a Proband? certain of these groups.15 (There is formation and recurrence risk initially more than average intermarriage or provided, and will facilitate integration The "proband" is the individual who mating within some groups isolated by ofthis information into decision making brings the family to the attention of the geography, culture, or religion.) by younger family members at risk as investigator. In a family physician's Clues to are sought in a they move through their life cycle.3,13"14 practice, the proband is the patient or a number of different ways, through: In many cases, ongoing counselling is close relative of the patient with a spe- * information about the birthplaces of least expensive and most convenient for cific health problem or concern. On the the parents, grandparents, and great- the family member when it is carried out sketch of the family tree, a diagonal ar- grandparents; in the local community. Io row points to the symbol representing * maiden names of the mothers, grand- The family physician often best com- the proband. mothers, and great-grandmothers;

Figure 2 a January 1948, P.D.Q. Mendel's Hasty Sketch of the "Bill Ox" Family Tree

14

E E1 : Sr rt~;vi-V -J 1 -'1 -.-11 ~~ - .I I 1 I -T-I-i-t---'I729.l-'',It T-tiX I ! i1-l -- l le9Ll--I--J-NI DI --

| : ~~.: t _ |_ ! -1}| W14l1 _ 7-I E :1

- -~__ 1 - -I z31 - <- i|-1-6-J-|T - §-=I- --| F- 7_17~~~~~~~~~~ . _ .. _.. ...*...... --.' . 16~~~~~~~~~~~~~~ 1: ::: : : I- :1 U I. 4.X1<:-1-'-- 4 :'0- ;;4 Ii0--l'A --I i1 - l..

T L' _ _

CAN. FAM. PHYSICIAN Vol. 34: APRIL 1988 851 * any identical or similar last names on tives who share 25% of the same ber to think of variations on the list in both sides of the family; genes Table 1. The vocabulary can be ad- * the direct question, "Do you and - the proband's maternal aunts and justed to that ofthe family member. For (your mate) share any common uncles; example, generalized descriptions such grandparent, great-grandparent, or - the proband's paternal aunts and as "problems in moving" may elicit a other ancestors?", or "Are you re- uncles; wider response than a question limited lated to (your mate)?" - the proband's nieces and nephews; to "arthritis".3 Many lay people are A standard form provides space for -the proband's maternal and paternal unaware of the genetic basis of many information about each sibship. The grandparents. health conditions and think their experi- first page starts with the parents of the If more distant relatives are affected by ence has no value compared with the proband, providing room to list, in birth the disease in question, similar data will physician's knowledge. 2 order, the outcome of each pregnancy. be needed for them also. The proband is asked to: Again, when a family tree is re- * include spontaneous abortions, termi- Health data viewed, the interviewer might ask ques- nations ofpregnancy, stillbirths, and tions about the possibility that any spon- livebirths (with months ofgestation if Health data'1.12 are requested for the taneous abortions, stillbirths, cancer, the fetus was lost); proband's sibs, and first- and second- congenital defects, diabetes, epilepsy, * for all liveborn sibs, list the name and degree relatives. Addresses of hospi- short stature, twins, mental retardation, add the date of birth, marriage, tals, physicians, and other sources per- or conditions like that of the proband death, and health data; tinent to the proband's or relatives' were omitted from the record. 15 In the * note infertility of any couple listed. health records should be noted. interest of making the respondent com- Data identical to that required for sibs When interviewing a family mem- fortable, work with each person in the is required for: ber, it may be useful for the physician to way he or she chooses. * the proband's first degree relatives ask about a series of possible health who share 50% of the same genes problems for the first few family mem- Sketching the Family Tree - the proband's parents; bers listed, in order to get the family Symbols used in sketching a family - the proband's brothers and sisters; member thinking about the systems that tree are given in Figure 1. A pencil - the proband's children; may be affected. should be used for sketching the family the proband's second-degree rela- We suggest asking the family mem- tree. Proceed as follows:

Figure 3 April 1967, P.D.Q. Mendel's Hasty Sketch of the "Bill Ox" Family Tree :'-

852 CAN. FAM. PHYSICIAN Vol. 34: APRIL 1988 1. Takean8x ll,or8x 14pieceofpa- their own generation level on the page c) Ifthe names are listed out ofbirth per. The lines on graph paper automati- (Figure 2). order, the physician may write the cally provide guides for spacing genera- b) Ifthe great-grandparents are to be birth-order number above the line ofde- tions and symbols. Your nearest genet- included, identify them as generation I. scent. ics clinic will provide you with an exam- c) The proband's grandparents will d) The correct birth order will be ple of the style its staff uses.'1,12 then be generation II. obvious if dates of birth of the siblings 2. Turn the paper at right angles from d) The parents of the proband are are listed. the way you would usually place it so generation Ill. 12. Foreach pregnancy draw a "line of that you will write across its greatest e) The proband is placed below, at descent" at a right angle down from the width. the level of generation IV. "pregnancy line". 3. a) In one corner write the day's date 6. Near the center of the page, on the 13. At the lower end of each "line of and the year. (You particularly need the level for generation III, draw the male descent" on the level chosen for the year if relatives' ages are given rather and female symbols representing the next generation draw the appropriate than their year of birth.) mother and father ofthe proband. Space symbol to indicate: b) Record the name ofthe person be- them near each other on the horizontal - a pregnancy; ing interviewed and the name of the in- generation-III line. - a spontaneous abortion; terviewer. 7. a) Draw the "parent line" to connect - a termination of pregnancy; 4. a) If many family members have the mother's and father's symbols. This - a stillbirth; health problems, decide on symbols for symbol is also called a "marriage line". - a livebirth (male, female, sex un- the conditions you will record on the b) The "parent line" is a double line known). family tree. if the mother and father share common 14. Write each person's name, year of b)Make a key to the disease symbols ancestors. birth or present agejust below his or her you will use. 8. A "line of descent" connects two symbol. Indicate health in words or by c)Health data may be written below parallel lines. The "line of descent" symbol. Often family members find it the person's symbol, with the name and drops from the "parent line" above, to easier to state the present age of the per- family-tree identification on a separate the "pregnancy line" below. The preg- son being identified, rather than their page or on the initial family-history nancies for the couple are then year ofbirth. Ifwe are drawing a family form. "dropped" from the "pregnancy line", tree while interviewing a family mem- 5. a) Decide how many generations the one "line of descent" for each preg- ber, we may compare the pregnancy family tree will cover. Three are con- nancy (Figure 4). line to a clothes line, and say that we are venient to space. The symbols for mem- 9. a) Estimate the width needed for the hanging up the pregnancies, one after bers of each generation are all kept at "pregnancy line" by asking the total the other (Figure 4). number of pregnancies for the couple 15. A dashed line for the "line of de- whose children are to be listed. scent" indicates that a child is adopted. Chart 1 b) Remember that if you ask only 16. A diagonal line through the symbol Think of Each Member about "number of children" and not shows that an individual is dead. In this of Your Family the total number of instance: about pregnancies, - write the date of death, or age at Think of each member of your family. some respondents will only mention death, if known, below the symbol; Does or did anyone have problems liveborn children. Many respondents - cause of death not that there is informa- write the (accurate, with: do realize any or in the words of the family member; * too much hair or too little hair? tion to be gained from lost pregnancies - remind the respondent again that * hearing, seeing teeth? or infant deaths. Some respondents will you need to list all first- and second- * fingers, hands toes? not mention children whom they as- * Feet, arms, legs,bones, back, mov- sume were healthy when they died. ing? c) Especially ifthe pregnancy loss or * Is anyone very tall or very short for death is recent, do remember that the Figure 4 his/her age? names listed were flesh-and-blood fam- The Pregnancy Line * Did or does anyone have ily members, and not just a circle or - spina bifida or "open spine" or square with a line slashed through. "hole in the back"? Sometimes we feel quite apologetic - snrnvrphsly ot "no skull or about this symbolism. head"? 10. Is there a generation IV? Ifso, space - diabetes, high blood pressure, heart problem(s), stroke? the "line of descent" for each member - problem(s) with blood, bowels, ofgeneration III so that you will be able stomach, kidney, breathing? to fit in, below, each sibship in genera- - cancer of any part of the body? tion IV. If history forms were com- - "nerves", "fits" frights or pleted ahead oftime, this information is seizures? already available to guide you. - slow learning, sickliness, Old 11. a) Pregnancies are listed in order: Timer's disease? left to right, first to last. - miscarriages, stillborn infants or b) Some respondents will give all infant deaths? the names of siblings of one sex, and * Was or is anyone barren? then move on to the other.

CAN. FAM. PHYSICIAN Vol. 34: APRIL 1988 853 degree relatives (living or dead, in your parents, yourself, and your sib- Merrie has lost the sight in one eye, and Newfoundland or British Columbia). lings. Or take a paper and test how eas- now isn't walking too steadily. She's ily you can sketch and update the "Ox" only 35, with five children (III-1 to The Proband's Relatives family tree as you read the following ex- III-5) to raise alone. Repeat steps 7-16 for the proband's cerpts from Dr. P.D.Q. Mendel's fam- relatives. ily-practice notes. (In 1988, Dr. Men- April 1967 records from 17. For each first- and second-degree del reviewed Figure 1 in an article in P.D. Q. Mendel, MD,CCFP relative of the proband, continue the Canadian Medical Association Jour- Doris Ox Bow (III-9) (Figure 3) was process, placing symbols at the level of nal 8 and inserted generation and iden- in the office today. Said she isn't sleep- the correct generation to represent each tification numbers [e.g.,Bill Ox, 1-2J ing well. At first I couldn't pinpoint relative, his or her mate, and the out- into her Figures 2 and 3.) anything. Her rickets are the same, ex- come of their pregnancies. Record: January 1948 records from cept perhaps she would be more com- - mating couples; P.D. Q. Mendel, MD, CCFP fortable with less weight. She's 28 now, - the parent line; and separated. There's always one of - the line of descent to their preg- One of my first house calls in this her relatives who's not well and she's nancy line; community was to the Ox's (Figure 2), off to help with the family. She didn't - the line of descent with the relevant after I received word that Grampa Bill stay home enough to satisfy Donald symbol to show the product of each Ox (1-2, 1890-1948) had not come Bow. Ten years ago she discussed very pregnancy. round from a "blackout" this morning. openly with me how she'd never bring 18. a) Identify each symbol by name or I overheard his son Carl (II-2, 1912) any children into the world, sensing in some other way. mutter something about "the curse of there was no way to predict where weak b) Another way to identify an indi- the Ox's" to one of his father's rela- bones, or the dropsy and premature vidual is to number every one in his or tives. Gramps suddenly went blind a death would strike. I've often said that her generation from left to right. The short while ago. He'd only had sight in medicine has advanced, and the right first person in a generation I is I-1, the one eye and had endured headaches for diet can prevent rickets when started second is 1-2 and so on. A sibship might years. No pills ever seemed to help. In early, but neither she nor her younger be 111-2 to 111-6. The arabic numeral is the nights he'd sometimes waken soak- sister Donna (III-12) ever seemed to placed at the lower right ofthe symbol it ing wet with sweat. His wife Bette (I-3) believe me. Donna feels so strongly identifies. said he had the "dropsy" that got his fa- about the familial health risks that she ther Adam before him. Sometimes he never even allowed herself to get emo- 19. Where unrelated parent lines and staggered so much in his walking that tionally close to anyone. Their older lines of descent must cross each other, people said he couldn't hold his liquor. brother Dave (111-7) and the youngest one line is looped on the drawing at the Bill and Bette moved in with their son Don (III-14, 1950) are worst affected point of crossing. Carl, his wife Carol (11-3), and their six by rickets. Dave and Don both have children after Bill's blackouts became children: (IV-27 to IV-28) and (IV-52 Additional Health Data frequent. to (IV-53). Dave's Enid (IV-27) and 20. As each symbol is drawn, ask spe- Carl and Carol's seventh infant is due Don's daughter Edith (IV-52) already cifically about the health ofthe person it this month. She has never lost one preg- have bow legs in their turn. represents: whether he or she had or has nancy. Even with her rickets, Carol has When I'd finished the exam, we sat a a health problem similar to the easy births. When I first visited Grampa while and talked about Doris' family. proband's or any other health problem. Bill at home, he made a point of telling Neither of us mentioned it at first, but I Write down the detail that is known or me that there were never bone problems know we both feel helpless because so sources of additional information. on his side of the family. A better diet many die so young, and none of the Many families share family folklore might help, but a regular supply of milk various specialists seem to be able to an- about their health. Remember that even is hard to come by. There was quite a ticipate or control medical crises. It's unscientific descriptions may provide crowd in that kitchen today, with six only a month since Doris' father Carl clues. One grandmother claimed that grandchildren trying to see what was Ox (II-2, 1912-1967) died while in sur- her infant was born with an stom- happening: Dave (III-7, b. 1934), Dean gery for a posterior fossa exploration. "open much the same ach" after she saw a pig butchered (III-8, 1936), Doris (III-9, 1939), He'd been having prob- while she was pregnant. (She carried an Dinah (III- 10, 1940), Debbie (III- II, lems as his father Bill (I-2) had 18 years inversion 3 chromosome.) About 50% 1942), and Donna (111-12, 1944). ago: sudden blindness, two years of an inversion 3 im- Dave, Doris, and Debbie also show evi- headaches, dizziness, and difficulty in of infants inheriting brother Dave balance in this kindred with an dence of rickets. Dave is worst off. walking. Doris' older develop Carl Ox's older sister Cathy Merrie (111-7, 1934-1966) was 32 when he omphalocele.2 (II-1, 1908) and his younger sister died last summer. He, too, had been in Connie Strong (II-4, 1914) brought 1928-1966) died leaving 10 kids. Doris Try It! food while I was there. Connie looks as is helping to support all these fatherless An easy place to start may be with strong as an ox. My partner in practice children. Again, the neighborhood your own family. You already have a said she has never had any trouble from rumour was that Damion drank too picture in your mind ofhow your family Connie's crew. I don't know about this much, but the family and I knew better. members are related to you. Try mak- Merrie family. She just moved back As she was getting up to leave, Doris ing a genogram now, using steps 17-20 with their kids. It looks as though both mentioned her younger sister Dinah and symbols from Figure 1. Start with sisters are in the family way. Mrs. (111-10). It came out that she had really 854 CAN. FAM. PHYSICIAN Vol. 34: APRIL 1988 come in to say that Dinah, too, is start- January 1986 records from Postscript from P.D. Q. ing to have blackouts. Dinah already P.D. Q. Mendel, MD, CCFP Mendel, MD, CCFP has six children and is pregnant again. There seems no chance that she and her It's now 38 years since Grampa Bill Like many other family physicians, husband will stop with six (IV-32 to Ox died. (See Green et al.,8 Figure 1.) I've made a habit of adding to family IV-37) no matter what her health is. I've attended so many weddings, births, trees for kindreds in my practice over "We live by God's will," was her re- christenings, deaths, and funerals for the last 40 years. 10 For some kindreds, sponse when her retinal angioma was the Ox family kindred that I feel as if these cumulative records are now facili- discovered last week. Doris went on to they are my own clan. As reported in the tating identification and counselling for say that she doesn't know what to do Canadian Medical Association Journal family members at risk for single about her youngest sister Donna this month, Green et al.8 had the sleuth- gene, 17 chromosomal, 18 and multifac- (III- 13). She is a regular worry for me, ing help of Doris (IH-9) and the co-op- torial genetic conditions. 19 I'll be too. I monitor her blood pressure, eration of at least 19 family physicians around a while longer to see this genera- which can go sky high without warning. and specialists in Newfoundland, New tion offamily physicians combining our She also has the rickets but seems to be Brunswick, and Ontario in compiling old tool, the family tree, with the new able to live with that. She and her hus- the Ox family tree and comparing medi- genetics for the benefit of families in band separated this winter. He said she cal histories for affected members. their practice. was too difficult to live with and sick too Four years ago they initiated a screen- much. Doris finally went out the door ing protocol through our Genetics Clin- Acknowledgements saying that she will be spending more ic. Three more affected family mem- time tracking down relatives for her bers were found, along with 11 who in- We gratefully acknowledge imagina- family tree, and she'll be back to share it herited this dominant gene, but are still tive involvement by "Doris Ox Bow" with me. asymptomatic. Some will now use this and the family physicians ofNewfound- It seems most likely from the inter- knowledge to make informed reproduc- land. generational pattern of affected mem- tive choices. This work was supported, in part, by bers of the Ox kindred that this disease, I was wrong when I thought that diet grants from the Medical Research which they call "the curse ofthe Oxes", accounted for the familial occurrence of Council of Canada, the Health Promo- shows a dominant pattern ofinheritance rickets in the Ox family. The problem tion Directorate of Health and Welfare (Figure 3). Both sexes are affected, and has now been diagnosed as X-linked Canada, and the Jobs Strategy Program vitamin- of Employment and Immigration Can- each affected person has some affected dominant hypophosphatemic ada. and some non-affected offspring. We D-resistant rickets.9 If identified and still have no way of knowing where the treated early enough, the carrier child gene is before it is passed on to the next will not be harmed. Effective treatment References generation or the family member starts costs about $200 per month for Dave 1. Jolly W, Fromm J, Rosen MG. showing symptoms of disease that the Ox's granddaughter (V-20). Genogram. J Fam Pract 1980; 10:251-5. specialists cannot cure. Nor can we pre- vent so many from developing the 2. Allderdice PW, Woodland BMcC, April 1988 Allderdice WH. Transforming theory into handicapping rickets. preventive genetics in rural communities. Screening of the Ox kindred is ongo- Can Fam Physician 1987; 33:162-6. ing, co-ordinated through the Genetics August 1969 records from Clinic. Blood samples have been taken 3. Woodland BMcC, Baird E, Allderdice PW. Ask your family tree: reader's guide P.D. Q. Mendel, MD, CCFP for DNA analysis. 16 Once a closely and take-home book (participatory educa- Our new pathologist has just pub- linked DNA probe is obtained, both pre- tion in human geneticsforfunctionally illit- lished a report on five cases ofVon Hip- and postnatal diagnosis will be available erate laypeople). St. John's: Memorial Uni- versity of Newfoundland, 1985. pel-Lindau's disease.6 Three are from for those who request it. 11,17 The work the Ox family. Many of the kindred al- of the family physicians does not stop 4. Sugiyama J. New genetics: an ethical and the re- perspective from family practice. Can Fam ready have large numbers of children when the diagnosis is made, 1988; 34:941-4. before their silent lesions become clini- currence risk is determined. Somehow Physician each individual still has to be helped to 5. Jorgenson RJ, Yoder FE, Shapiro SD. cally apparent, and no one family physi- Pedigree: a basic guide.,SC:The Grendel cian or specialist knows all the cases. come to terms with his or her inheri- Co., 1980. tance through continued discussion and Those showing up first with vision loss 6. Rho YM, Von Hippel-Lindau's disease: are referred to ophthalmologists; those counselling. 11,12,14 Within Doris' sib- a report of five cases. Can Med Assoc J with neurologic impairment to neur- ship (III-7-11-14) four of the six mar- 1969; 101:135-42. ologists; those with kidney problems or riages broke up, two of the seven sibs 7. Winsor E. Mendelian genetics. Can Fam high blood pressure to internists. We refused to risk having children, and Physician 1988; 34:859-63. one of the seven has an don't yet know the extent ofvariation in only "okay" 8. GreenJS, Bowmer IM, Johnson GJ. Von expression of the gene in this family. marriage today. Anxiety and despair Hippel-Lindau disease in a Newfoundland Fortunately, there are plans for a genet- about being identified as a carrier of, or kindred. Can Med Assoc J 1986; ics clinic at our new medical school. already affected by, a potentially harm- 134:133-46 This will provide a central registry, ful genetic condition can only be coun- 9. Glorieux FH, Scriver CR, Reade TM, et where the family tree will be collated, tered by the family physician's ongoing al. Use of phosphate and vitamin D to pre- and from which screening can be co-or- concern and involvement in humanistic vent dwarfism and rickets in X-linked dinated. delivery of preventive health care. Continued on page 970

CAN. FAM. PHYSICIAN Vol. 34: APRIL 1988 855 Advertisers' Index Continued from page 855 Allen & Hanburys Merck Sharp & Dohme Ventolin ...... IBC/926 Noroxin ...... 764/964-965 8. Green JS, Bowmer IM, Johnson GJ. Von Hippel-Lindau disease in a Newfoundland kindred. Can Med Assoc J 1986; Ames Company Nordic Laboratories Inc. 134:133-46 ...... 922 Glucometer ...... 800 Glucophage 9. Glorieux FH, Scriver CR, Reade TM, et Sulcrate ...... 792/988 al. Use of phosphate and vitamin D to pre- Ayerst Laboratories vent dwarfism and rickets in X-linked Inderal-LA ...... 838-839/783 Parke-Davis Canada Inc. hypophosphatemia. New Engl J Med 1972; Anusol-HC ...... 889/913 287:481-7. Berlex Canada Inc. Benadryl ...... 840/807 10. Sheldon J, Sheldon K. Why I stay in ru- Triquilar ...... 951-954/978-979 Dilantin ...... 776/962 ral practice. Can Fam Physician 1987; Lopid ...... 928/880 33:1677-81. Bioself Canada Inc. Ponstan ...... 890/775 11. Carriere L, Thompson D. Problems in Bioself 110 ...... 843 genetics: getting help. Can Fam Physician Pfizer Canada Inc. 1988; 34:929-32. Boehringer Ingelheim Feldene ...... 934/788 12. Cole J, Conneally PM, Hodes ME, et ...... 907-908 al. Genetic family history questionnaire. J (Canada) Ltd. Minipress Med Genet 1978; 15:10-8. Alupent ...... 804/828 Sinequan ...... 802-803 Vibra-Tabs C-Pak ...... 778/791 13. Wyatt P. Preconception clinical genet- Atrovent ...... 946/944 ics. Can Fam Physician 1988; 34: 000-00. Berotec ...... 933/980 Catapres ...... 864-865/782 Princeton Pharmaceutical 14. Boucher K, Neidhardt A, Yousbn B. Products Support services in genetics. Can Fam Phy- sician 1988; 34:935-9. Bristol-Myers Canada Inc. Ecostatin ...... 848/837 ...... 813/844 15. Fraser FC, Nora JJ. Genetics of man. Questran Purdue Frederick Inc. 2nd ed. Philadelphia: Lea & Febiger, 1986. Sotacor ...... 806 Uniphyl ...... 872-873/968-969 16. Glickman RM, Phillips MA, Glickman BW. From research to the clinical labora- Burroughs Wellcome Inc. tory: recombinant DNA technology and ge- Co-Actifed ...... 772/898 Reed & Carnrick Kwellada ...... 874/908 netics. Can Fam Physician 1988; 34:883-9. Cortisporin ...... 882/787 17. Hunter A. Invasive prenatal testing...... 894 Zovirax ...... Roussel Canada Inc. Can Fam Physician 1988; 34:903-6. Zyloprim ...... 812 Surgam ...... 796-798 18. Roland B, Cox D. Basic cytogenetics for office practice. Can Fam Physician Ciba Pharmaceuticals 1988; 34:875-9. Estraderm ...... OBC/958 Sandoz Canada Inc. Fiorinal ...... 914 19. Farrell SA. Multifactorial inheritance in man. Can Fam Physician 1988; Fisons Pharmaceuticals Squibb Canada Inc. 34:867-71. Intal/Fivent ...... 810/982 Capoten ...... IFC/966-967 DuoDerm ...... 940 C.E. Frosst Kenacomb ...... 881 Clinoril ...... 927/7.84 Sterling Drug Limited Glaxo Laboratories Aspirin ...... 846-847/790 Beclovent ...... 899-901/984 Syntex Inc. Anaprox ...... 845/898 ICI Pharma Naprosyn ...... 829/944 Tenoretic ...... 971-975 Rhinalar ...... 920-921 Tenormin ...... 815-818 Upjohn Company of Canada Janssen Pharmaceutica Inc. Ansaid ...... 856-857/960 Hismanal ...... 794-795/871 Rogaine ...... 770-771/842 Motilium ...... 768/956 Xanax ...... 830/976 Nizoral Cream ...... 902/814 Vascular Electronics Eli Lilly Canada Inc. and Diagnostics ...... 967 Humulin ...... 824/986 Winthrop Laboratories McNeil Consumer Products Cyclomen ...... 858/822 Company Gaviscon ...... 945/926 Children's Tylenol ...... 823/969 Idarac ...... 766/921 Mead Johnson Canada Wyeth Limited ProSobee ...... 866 Triphasil/Min-Ovral . . 808-809/863 APRIL 1988 970 CAN. FAM. PHYSICIAN Vol. 34: